Descriptions

The mammalian fibroblast growth factor (FGF)1 family contains at least 22 distinct polypeptides (FGF1–FGF22) that are expressed in a specific spatial and temporal pattern. FGF9 was originally described as a glia-activating factor and is expressed in the nervous system as a potent mitogen for glia cells. FGF9 adopts a beta-trefoil fold similar to other FGFs, but the N- and C-terminal regions outside the beta-trefoil core are ordered (typical FGFs have disordered tails) and involved in reversible dimerization. Due to the dimerization, a significant surface area is buried in the dimer interface that occludes a major receptor binding site of FGF9 within the beta-trefoil core. Sequence alignment of FGFs shows that most of the residues that participate in this interface in FGF9 are conserved in FGF16, suggesting that FGF16 may also dimerize for autoinhibition.

Autoinhibitory domains (AIDs)

Target domain

79-204 (beta-trefoil core)

Relief mechanism

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for O15520

Entry ID Method Resolution Chain Position Source
1NUN X-ray 290 A A 64-208 PDB
AF-O15520-F1 Predicted AlphaFoldDB

267 variants for O15520

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1554040396
RCV000659640
1 M>V Levy-Hollister syndrome [ClinVar] Yes ClinVar
dbSNP
CA200465
RCV001152456
RCV000173344
RCV000888690
COSM145413
rs145373611
33 V>I large_intestine haematopoietic_and_lymphoid_tissue Congenital absence of salivary gland [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001196292
rs201790067
39 A>D Levy-Hollister syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
rs886060654
RCV000320633
CA10621917
62 S>R Congenital absence of salivary gland [ClinVar] Yes TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
rs1446723373
RCV001783273
RCV002471161
64 G>* Levy-Hollister syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs1554040364
RCV000659641
78 R>missing Levy-Hollister syndrome [ClinVar] Yes ClinVar
dbSNP
CA118872
RCV000007970
rs104893888
RCV000659642
80 R>S Levy-Hollister syndrome Congenital absence of salivary gland [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs1554040361
RCV000659643
86 T>missing Levy-Hollister syndrome [ClinVar] Yes ClinVar
dbSNP
rs104893885
VAR_029888
CA118868
RCV003151710
106 C>F Lacrimoauriculodentodigital syndrome 3 LADD3 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000659644
rs1554035763
119 G>missing Levy-Hollister syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000659645
rs1554035757
134 M>K Levy-Hollister syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV003151712
RCV000007968
rs104893887
CA118870
137 K>* Lacrimoauriculodentodigital syndrome 3 Congenital absence of salivary gland [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000007971
CA118874
rs104893889
138 G>E Congenital absence of salivary gland [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs104893886
VAR_029889
CA118869
RCV003151711
156 I>R Lacrimoauriculodentodigital syndrome 3 LADD3 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1332768200
RCV000659646
RCV003403519
181 N>H FGF10-related condition Levy-Hollister syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs1554035469
RCV000659647
184 G>R Levy-Hollister syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
CA118866
RCV000007964
rs104893884
RCV000760468
193 R>* Congenital absence of salivary gland [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs150695565
COSM1207047
RCV002275300
RCV001157920
204 M>V large_intestine Congenital absence of salivary gland [Cosmic, ClinVar] Yes cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000335259
rs147715509
CA3258476
RCV000960252
RCV002502145
RCV000398550
207 H>P Congenital absence of salivary gland [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1347979233 2 W>* No gnomAD
rs1347979233 2 W>C No gnomAD
rs199671312
COSM738690
2 W>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
RCV002026873
rs2111941241
4 W>R No ClinVar
Ensembl
dbSNP
rs1742169916 5 I>M No TOPMed
COSM3855396 5 I>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1441196548 5 I>T No TOPMed
gnomAD
TCGA novel
rs747476439
6 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ExAC
TOPMed
gnomAD
rs201659493 6 L>P No gnomAD
rs747476439 6 L>V No ExAC
TOPMed
gnomAD
rs2111941179 7 T>A No Ensembl
rs200886626 7 T>I No ExAC
gnomAD
rs2111941151 8 H>Y No Ensembl
rs2111941131 9 C>F No Ensembl
rs1402567148 10 A>V No TOPMed
gnomAD
rs2111941100
COSM94305
11 S>L lung [Cosmic] No cosmic curated
Ensembl
rs148032639 14 P>L No ESP
ExAC
TOPMed
gnomAD
rs754826334 14 P>S No ExAC
TOPMed
gnomAD
rs754826334 14 P>T No ExAC
TOPMed
gnomAD
rs1579952227 15 H>P No Ensembl
rs1579952213 16 L>P No Ensembl
rs374755098 17 P>S No ESP
ExAC
TOPMed
gnomAD
rs374755098 17 P>T No ESP
ExAC
TOPMed
gnomAD
rs766989043 18 G>C No ExAC
TOPMed
gnomAD
rs766989043 18 G>S No ExAC
TOPMed
gnomAD
rs201408864 18 G>V No TOPMed
gnomAD
rs761359401 19 C>G No ExAC
TOPMed
gnomAD
rs2111940924 19 C>Y No Ensembl
rs1742167894 20 C>S No TOPMed
rs1272336613 21 C>F No TOPMed
gnomAD
rs1272336613 21 C>Y No TOPMed
gnomAD
rs2111940849 22 C>F No Ensembl
rs200247528 22 C>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs2111940840 22 C>W No Ensembl
rs2111940849 22 C>Y No Ensembl
rs2111940824 23 C>F No Ensembl
rs2111940824 23 C>Y No Ensembl
rs199806461 28 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs1742166990 29 L>F No TOPMed
rs1223515236 30 V>A No gnomAD
rs1284421241 30 V>L No TOPMed
gnomAD
rs1284421241 30 V>M No TOPMed
gnomAD
COSM1068457 31 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762625065 31 S>T No ExAC
gnomAD
rs2111940710 32 S>F No Ensembl
rs145373611 33 V>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2111940638 34 P>H No Ensembl
rs2111940667 34 P>S No Ensembl
rs1007631855 35 V>A No TOPMed
gnomAD
rs1579952118 36 T>P No Ensembl
rs1742166191 37 C>R No gnomAD
TCGA novel
rs2111940565
37 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1742166113 39 A>T No TOPMed
rs201790067 39 A>V No ExAC
gnomAD
rs146669375 40 L>F No ESP
ExAC
TOPMed
gnomAD
COSM1496129 40 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs146669375 40 L>V No ESP
ExAC
TOPMed
gnomAD
rs772109862 41 G>D No ExAC
TOPMed
gnomAD
rs1429390732 42 Q>L No gnomAD
rs1409855200 43 D>G No TOPMed
gnomAD
rs778802173 43 D>N No ExAC
TOPMed
gnomAD
rs778802173 43 D>Y No ExAC
TOPMed
gnomAD
rs201168313 44 M>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs779848984 44 M>T No ExAC
gnomAD
rs201168313 44 M>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1232465320 45 V>E No gnomAD
rs750371676 46 S>L No ExAC
gnomAD
rs527933059 47 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs751081612 49 A>D No ExAC
TOPMed
gnomAD
rs751081612 49 A>G No ExAC
TOPMed
gnomAD
COSM3855395
rs751081612
49 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144567587 50 T>S No ESP
ExAC
TOPMed
gnomAD
COSM3776722
rs775259892
52 S>C Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775259892 52 S>F No ExAC
TOPMed
gnomAD
rs762714965 52 S>T No ExAC
gnomAD
rs775259892 52 S>Y No ExAC
TOPMed
gnomAD
rs1742163718 53 S>F No Ensembl
TCGA novel 53 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1742163718 53 S>Y No Ensembl
rs2111940153
COSM1437688
54 S>F large_intestine [Cosmic] No cosmic curated
Ensembl
COSM3616762 55 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2111940137 56 S>F No Ensembl
rs773650137 57 F>L No ExAC
gnomAD
rs1742163480 57 F>S No Ensembl
rs761116992 57 F>V No ExAC
gnomAD
rs1462552463 58 S>C No TOPMed
gnomAD
rs1462552463 58 S>Y No TOPMed
gnomAD
rs201038841 59 S>F No ExAC
TOPMed
gnomAD
TCGA novel 59 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs199850745 60 P>H No TOPMed
rs199850745 60 P>R No TOPMed
rs1742162872 60 P>S No TOPMed
rs774523215 61 S>C No ExAC
TOPMed
gnomAD
rs774523215 61 S>F No ExAC
TOPMed
gnomAD
rs898009871 62 S>G No TOPMed
gnomAD
rs2111939874 63 A>S No Ensembl
TCGA novel 63 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs201676495 64 G>E No ExAC
TOPMed
gnomAD
rs1446723373 64 G>R No gnomAD
rs201676495 64 G>V No ExAC
TOPMed
gnomAD
rs2111939812 65 R>M No Ensembl
rs1203071781 65 R>S No gnomAD
rs562084259 66 H>Y No 1000Genomes
rs2111939767
RCV001874304
67 V>missing No ClinVar
dbSNP
rs2111939735 68 R>G No Ensembl
rs1579951927
COSM1437687
68 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs2111939735 68 R>W No Ensembl
rs780222015 69 S>N No ExAC
gnomAD
rs541818263 71 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs745684641
COSM94304
72 H>Y lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs2111939617 75 G>* No Ensembl
rs1742161036 75 G>E No Ensembl
rs1742161036 75 G>V No Ensembl
rs199689272 76 D>E No 1000Genomes
ExAC
rs1436510729 78 R>H No Ensembl
rs1436510729 78 R>L No Ensembl
COSM3855394 79 W>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1437686 80 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200056747 81 K>N No ExAC
TOPMed
gnomAD
TCGA novel 82 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1742160074 83 F>L No TOPMed
TCGA novel 84 S>F Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM449707 86 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1742159760 88 Y>C No TOPMed
rs1554040360
CA658657444
RCV000523783
90 L>missing No ClinGen
ClinVar
dbSNP
COSM3429485 90 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757950282 90 L>V No ExAC
gnomAD
rs752464185 91 K>R No ExAC
gnomAD
COSM6171277 93 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1258016531 93 E>V No Ensembl
rs1363470725 95 N>K No gnomAD
rs1006967829 95 N>T No Ensembl
rs1274894561 97 K>E No TOPMed
gnomAD
rs1742158663 97 K>N No TOPMed
rs2111939259
COSM4159881
98 V>I thyroid [Cosmic] No cosmic curated
Ensembl
COSM4159880
rs2111939248
99 S>G thyroid [Cosmic] No cosmic curated
Ensembl
rs764969764 99 S>N No ExAC
gnomAD
rs759054084 99 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2111939225 100 G>E No Ensembl
COSM4413111 100 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1742158130 104 E>G No TOPMed
rs1742158208 104 E>Q No TOPMed
rs1428980854 105 N>S No TOPMed
rs200701392 107 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs200701392 107 P>R No TOPMed
gnomAD
rs1183240121 108 Y>H No gnomAD
rs961216513 109 S>N No gnomAD
rs1207676419 113 I>M No TOPMed
gnomAD
rs1740187119 117 E>K No TOPMed
gnomAD
rs1740187119 117 E>Q No TOPMed
gnomAD
rs201385181 118 I>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1740186895 119 G>R No Ensembl
TCGA novel 120 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769710686 120 V>I No ExAC
gnomAD
rs1225998924 122 A>T No gnomAD
rs2111688174 122 A>V No Ensembl
rs1467091511 123 V>A No TOPMed
rs776683911 123 V>I No ExAC
TOPMed
gnomAD
rs1740186270 124 K>R No Ensembl
rs1740186154 127 N>S No Ensembl
COSM1207048 128 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1740186007 129 N>D No TOPMed
gnomAD
rs145888320 130 Y>C No ESP
ExAC
TOPMed
gnomAD
rs761123609 132 L>S No Ensembl
COSM3855392 132 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2111687980 133 A>V No Ensembl
rs1740185736 135 N>D No TOPMed
rs746766662 135 N>S No ExAC
gnomAD
rs1398855772 136 K>N No gnomAD
TCGA novel 137 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs866583243 138 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs2111687801 139 K>* No Ensembl
rs200885171 142 G>A No Ensembl
rs200885171 142 G>D No Ensembl
rs1421578299 143 S>L No gnomAD
COSM5682558 144 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1740047632 147 N>S No TOPMed
gnomAD
COSM3342865
rs2111667210
149 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
TCGA novel 150 C>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2111667194 150 C>Y No Ensembl
rs1740047559
COSM1068455
151 K>T Variant assessed as Somatic; MODERATE impact. oesophagus endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
TCGA novel 155 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1409489572 155 R>K No gnomAD
rs1409489572 155 R>M No gnomAD
rs2111667052
COSM351231
157 E>D lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2111667022 158 E>G No Ensembl
rs2111667037 158 E>K No Ensembl
TCGA novel 159 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2111666966 160 G>E No Ensembl
rs2111666945 161 Y>D No Ensembl
rs1206827871 163 T>I No gnomAD
rs2111666859 165 A>S No Ensembl
rs2111666844 165 A>V No Ensembl
rs1374899961 167 F>L No gnomAD
rs992179317 168 N>K No TOPMed
gnomAD
rs2111666786 169 W>* No Ensembl
rs2111666773 169 W>* No Ensembl
rs758742613 170 Q>* No ExAC
gnomAD
rs758742613 170 Q>K No ExAC
gnomAD
rs1456457163 171 H>D No TOPMed
rs1456457163 171 H>N No TOPMed
rs1456457163 171 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1740046308 172 N>S No gnomAD
rs2111666663 173 G>A No Ensembl
rs1740046135 173 G>R No Ensembl
rs1740046135 173 G>W No Ensembl
rs1200591041 174 R>K No TOPMed
rs1740046017 174 R>S No TOPMed
rs1200591041 174 R>T No TOPMed
RCV000522239
rs1554035473
CA658657443
176 M>missing No ClinGen
ClinVar
dbSNP
TCGA novel 176 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1453394033 177 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1740045808 178 V>M No TOPMed
rs201342529 179 A>S No Ensembl
rs1332768200 181 N>D No gnomAD
rs571717817 183 K>R No Ensembl
rs2111666416 184 G>E No Ensembl
rs1740045309 185 A>T No gnomAD
rs1001460084 185 A>V No Ensembl
rs1442319696 187 R>K No TOPMed
rs183142365 188 R>I No 1000Genomes
TCGA novel 188 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1013456350 190 Q>E No TOPMed
gnomAD
rs1403015185 190 Q>H No gnomAD
rs866612964 190 Q>R No Ensembl
rs2111666194 192 T>I No Ensembl
rs2111666194 192 T>K No Ensembl
rs104893884 193 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1158466327 193 R>P No TOPMed
gnomAD
COSM3828118
rs1158466327
193 R>Q Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1418284908 194 R>K No gnomAD
COSM738693 195 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1165118219 195 K>R No TOPMed
gnomAD
rs2111666078 196 N>D No Ensembl
rs2111666078 196 N>H No Ensembl
rs2111666078 196 N>Y No Ensembl
rs1163839847 197 T>I No gnomAD
rs2111666025 197 T>S No Ensembl
rs1235308786 198 S>C No TOPMed
gnomAD
rs2111665914 199 A>T No Ensembl
COSM3855391 199 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2111665883 200 H>D No Ensembl
rs2111665860 202 L>F No Ensembl
rs1740043544 205 V>A No gnomAD
rs773535125 205 V>M No ExAC
TOPMed
gnomAD
rs202151850 206 V>I No 1000Genomes
gnomAD
rs202151850
COSM1736678
206 V>L central_nervous_system [Cosmic] No cosmic curated
1000Genomes
gnomAD
rs147715509 207 H>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD

2 associated diseases with O15520

[MIM: 180920]: Aplasia of lacrimal and salivary glands (ALSG)

A rare condition characterized by dry conjunctival mucosae, irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 620193]: Lacrimo-auriculo-dento-digital syndrome 3 (LADD3)

A form of lacrimo-auriculo-dento-digital syndrome, an autosomal dominant disease characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A rare condition characterized by dry conjunctival mucosae, irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • A form of lacrimo-auriculo-dento-digital syndrome, an autosomal dominant disease characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. . Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for O15520

Type Name Position InterPro Accession
No domain, repeats, and functional sites for O15520

Functions

Description
EC Number
Subcellular Localization
  • Secreted
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cell surface The external part of the cell wall and/or plasma membrane.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name Definition
chemoattractant activity Providing the environmental signal that initiates the directed movement of a motile cell or organism towards a higher concentration of that signal.
fibroblast growth factor receptor binding Binding to a fibroblast growth factor receptor (FGFR).
growth factor activity The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation.
heparin binding Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
type 2 fibroblast growth factor receptor binding Binding to a type 2 fibroblast growth factor receptor (FGFR2).

106 GO annotations of biological process

Name Definition
actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
animal organ morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
blood vessel remodeling The reorganization or renovation of existing blood vessels.
branch elongation involved in salivary gland morphogenesis The differential growth of the salivary branches along their axis, resulting in the growth of a branch.
branching morphogenesis of an epithelial tube The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder.
bronchiole morphogenesis The process in which a bronchiole is generated and organized. A bronchiole is the first airway branch that no longer contains cartilage; it is a branch of the bronchi.
bud elongation involved in lung branching The process in which a bud in the lung grows out from the point where it is formed.
bud outgrowth involved in lung branching The process in which a region of the lung epithelium initiates an outgrowth.
cell differentiation The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
determination of left/right symmetry The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry.
embryonic camera-type eye development The process occurring during the embryonic phase whose specific outcome is the progression of the eye over time, from its formation to the mature structure.
embryonic digestive tract morphogenesis The process in which the anatomical structures of the digestive tract are generated and organized during embryonic development. The digestive tract is the anatomical structure through which food passes and is processed.
embryonic genitalia morphogenesis The process, occurring in the embryo, by which the anatomical structures of the genitalia are generated and organized.
embryonic pattern specification The process that results in the patterns of cell differentiation that will arise in an embryo.
endothelial cell proliferation The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium.
epithelial cell proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances.
epithelial cell proliferation involved in salivary gland morphogenesis The multiplication or reproduction of epithelial cells of the submandibular salivary gland, resulting in the expansion of a cell population and the shaping of the gland.
ERK1 and ERK2 cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier
establishment of mitotic spindle orientation A cell cycle process that sets the alignment of mitotic spindle relative to other cellular structures.
extrinsic apoptotic signaling pathway in absence of ligand The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with withdrawal of a ligand from a cell surface receptor, and ends when the execution phase of apoptosis is triggered.
female genitalia morphogenesis The process in which the anatomical structures of female genitalia are generated and organized.
fibroblast growth factor receptor apoptotic signaling pathway An apoptotic signaling pathway that starts with a ligand binding to, or being withdrawn from, a fibroblast growth factor receptor (FGFR).
fibroblast growth factor receptor signaling pathway The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
fibroblast growth factor receptor signaling pathway involved in mammary gland specification The series of molecular signals initiated by binding of a fibroblast growth factor to its receptor on the surface of al cell in the epidermis resulting in the formation of the mammary line. The mammary line is a ridge of epidermal cells that will form the mammary placodes.
fibroblast proliferation The multiplication or reproduction of fibroblast cells, resulting in the expansion of the fibroblast population.
hair follicle morphogenesis The process in which the anatomical structures of the hair follicle are generated and organized.
Harderian gland development The process whose specific outcome is the progression of the Harderian gland over time, from its formation to the mature structure. The Harderian gland is an anterior orbital structure usually associated with the nictitating membrane, and produces and secretes a variety of substances to the eye, depending upon the species.
induction of positive chemotaxis Any process that initiates the directed movement of a motile cell or organism towards a higher concentration in a concentration gradient of a specific chemical.
keratinocyte proliferation The multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. Keratinocytes are epidermal cells which synthesize keratin and undergo a characteristic change as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin.
lacrimal gland development The process whose specific outcome is the progression of the lacrimal gland over time, from its formation to the mature structure. The lacrimal gland produces secretions that lubricate and protect the cornea of the eye.
limb bud formation The process pertaining to the initial formation of a limb bud from unspecified parts. This process begins with the formation of a local condensation of mesenchyme cells within the prospective limb field, and ends when a limb bud is recognizable.
limb development The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin.
lung epithelium development The biological process whose specific outcome is the progression of the lung epithelium from an initial condition to its mature state. This process begins with the formation of lung epithelium and ends with the mature structure. The lung epithelium is the specialized epithelium that lines the inside of the lung.
lung proximal/distal axis specification The establishment, maintenance and elaboration of the proximal/distal axis of the lung. The proximal/distal axis of the lung is defined by a line that runs from the trachea to the alveoli.
lung saccule development The biological process whose specific outcome is the progression of a lung saccule from an initial condition to its mature state. The lung saccule is the primitive gas exchange portion of the lung composed of type I and type II cells.
male genitalia morphogenesis The process in which the anatomical structures of male genitalia are generated and organized.
mammary gland bud formation The morphogenetic process in which a bud forms from the mammary placode. A mammary bud is bulb of epithelial cells that is distinct from the surrounding epidermis.
mesenchymal cell differentiation involved in lung development The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell of the lung. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types.
mesenchymal-epithelial cell signaling involved in lung development Any process that mediates the transfer of information from a mesenchymal cell to an epithelial cell and contributes to the development of the lung.
mesonephros development The process whose specific outcome is the progression of the mesonephros over time, from its formation to the mature structure. In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the mesonephros will form the mature kidney.
metanephros development The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine.
metanephros morphogenesis The process in which the anatomical structures of the metanephros are generated and organized.
muscle cell fate commitment The process in which the cellular identity of muscle cells is acquired and determined.
negative regulation of epithelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation.
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand.
negative regulation of stem cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of stem cell proliferation.
odontogenesis of dentin-containing tooth The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel.
organ induction The interaction of two or more cells or tissues that causes them to change their fates and specify the development of an organ.
otic vesicle formation The process resulting in the transition of the otic placode into the otic vesicle, a transient embryonic structure formed during development of the vertebrate inner ear.
pancreas development The process whose specific outcome is the progression of the pancreas over time, from its formation to the mature structure. The pancreas is an endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating hormones.
pituitary gland development The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands.
positive chemotaxis The directed movement of a motile cell or organism towards a higher concentration of a chemical.
positive regulation of ATP-dependent activity Any process that activates or increases the rate of an ATP-dependent activity.
positive regulation of canonical Wnt signaling pathway Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of DNA repair Any process that activates or increases the frequency, rate or extent of DNA repair.
positive regulation of endothelial cell proliferation Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of epithelial cell migration Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of epithelial cell proliferation Any process that activates or increases the rate or extent of epithelial cell proliferation.
positive regulation of epithelial cell proliferation involved in wound healing Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury.
positive regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of fibroblast proliferation Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
positive regulation of G1/S transition of mitotic cell cycle Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of hair follicle cell proliferation Any process that activates or increases the rate or extent of hair follicle cell proliferation.
positive regulation of keratinocyte migration Any process that activates or increases the frequency, rate or extent of keratinocyte migration.
positive regulation of keratinocyte proliferation Any process that increases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population.
positive regulation of lymphocyte proliferation Any process that activates or increases the rate or extent of lymphocyte proliferation.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of Notch signaling pathway Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway.
positive regulation of peptidyl-tyrosine phosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of Ras protein signal transduction Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction.
positive regulation of stem cell proliferation Any process that activates or increases the frequency, rate or extent of stem cell proliferation.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of urothelial cell proliferation Any process that activates or increases the rate or extent of urothelial cell proliferation.
positive regulation of vascular endothelial growth factor receptor signaling pathway Any process that activates or increases the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity.
positive regulation of white fat cell proliferation Any process that activates or increases the rate or extent of white fat cell proliferation.
prostatic bud formation The morphogenetic process in which a region of the fetal urogenital sinus epithelium is specified to become the prostate, resulting in prostate bud outgrowth.
protein localization to cell surface A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane.
radial glial cell differentiation The process in which neuroepithelial cells of the neural tube give rise to radial glial cells, specialized bipotential progenitors cells of the brain. Differentiation includes the processes involved in commitment of a cell to a specific fate.
regulation of activin receptor signaling pathway Any process that modulates the frequency, rate or extent of the activity of any activin receptor signaling pathway.
regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling Any process that modulates the rate, frequency, or extent of branching involved in salivary gland morphogenesis as a result of signals being generated by the mesenchyme and received and interpreted by the salivary gland epithelium.
regulation of saliva secretion Any process that modulates the frequency, rate or extent of the regulated release of saliva from a cell or a tissue.
regulation of smoothened signaling pathway Any process that modulates the frequency, rate or extent of smoothened signaling.
response to estradiol Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
response to lipopolysaccharide Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
salivary gland development The process whose specific outcome is the progression of the salivary gland over time, from its formation to the mature structure. Salivary glands include any of the saliva-secreting exocrine glands of the oral cavity.
secretion by lung epithelial cell involved in lung growth The controlled release of liquid by a lung epithelial cell that contributes to an increase in size of the lung as part of its development.
semicircular canal fusion Creation of the central hole of the semicircular canal by sealing the edges of the pouch that forms during the process of semicircular canal formation.
smooth muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary.
somatic stem cell population maintenance Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line.
spleen development The process whose specific outcome is the progression of the spleen over time, from its formation to the mature structure. The spleen is a large vascular lymphatic organ composed of white and red pulp, involved both in hemopoietic and immune system functions.
stem cell proliferation The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
submandibular salivary gland formation The developmental process pertaining to the initial formation of a submandibular salivary gland. This process begins with a thickening of the epithelium next to the tongue and ends when a bud linked to the oral surface is formed.
tear secretion The regulated release of the aqueous layer of the tear film from the lacrimal glands. Tears are the liquid product of a process of lacrimation to clean and lubricate the eyes. Tear fluid contains water, mucin, lipids, lysozyme, lactoferrin, lipocalin, lacritin, immunoglobulins, glucose, urea, sodium, and potassium.
thymus development The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components.
thyroid gland development The process whose specific outcome is the progression of the thyroid gland over time, from its formation to the mature structure. The thyroid gland is an endoderm-derived gland that produces thyroid hormone.
tissue regeneration The regrowth of lost or destroyed tissues.
type II pneumocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a type II pneumocyte. A type II pneumocyte is a surfactant secreting cell that contains abundant cytoplasm containing numerous lipid-rich multilamellar bodies.
urothelial cell proliferation The multiplication or reproduction of urothelial cells, resulting in the expansion of a cell population. Urothelial cells make up a layer of transitional epithelium in the wall of the bladder, ureter, and renal pelvis, external to the lamina propria.
vascular endothelial growth factor receptor signaling pathway The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
white fat cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a white adipocyte, an animal connective tissue cell involved in energy storage. White adipocytes have cytoplasmic lipids arranged in a unique vacuole.
white fat cell proliferation The multiplication or reproduction of white fat cells by cell division, resulting in the expansion of their population.
Wnt signaling pathway The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.
wound healing The series of events that restore integrity to a damaged tissue, following an injury.

28 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P48801 FGF3 Fibroblast growth factor 3 Gallus gallus (Chicken) SS
O43320 FGF16 Fibroblast growth factor 16 Homo sapiens (Human) EV SS
P10767 FGF6 Fibroblast growth factor 6 Homo sapiens (Human) SS
P11487 FGF3 Fibroblast growth factor 3 Homo sapiens (Human) SS
P31371 FGF9 Fibroblast growth factor 9 Homo sapiens (Human) EV
Q92914 FGF11 Fibroblast growth factor 11 Homo sapiens (Human) SS
Q9HCT0 FGF22 Fibroblast growth factor 22 Homo sapiens (Human) SS
Q9NP95 FGF20 Fibroblast growth factor 20 Homo sapiens (Human) SS
Q9NSA1 FGF21 Fibroblast growth factor 21 Homo sapiens (Human) PR
P08620 FGF4 Fibroblast growth factor 4 Homo sapiens (Human) PR
P21658 Fgf6 Fibroblast growth factor 6 Mus musculus (Mouse) SS
Q9ESS2 Fgf22 Fibroblast growth factor 22 Mus musculus (Mouse) SS
P54130 Fgf9 Fibroblast growth factor 9 Mus musculus (Mouse) SS
Q9JJN1 Fgf21 Fibroblast growth factor 21 Mus musculus (Mouse) PR
Q9ESL8 Fgf16 Fibroblast growth factor 16 Mus musculus (Mouse) SS
Q9ESL9 Fgf20 Fibroblast growth factor 20 Mus musculus (Mouse) SS
P11403 Fgf4 Fibroblast growth factor 4 Mus musculus (Mouse) PR
P61329 Fgf12 Fibroblast growth factor 12 Mus musculus (Mouse) PR
P05524 Fgf3 Fibroblast growth factor 3 Mus musculus (Mouse) SS
O35565 Fgf10 Fibroblast growth factor 10 Mus musculus (Mouse) SS
Q95L12 FGF9 Fibroblast growth factor 9 Sus scrofa (Pig) SS
Q9EST9 Fgf20 Fibroblast growth factor 20 Rattus norvegicus (Rat) SS
O54769 Fgf16 Fibroblast growth factor 16 Rattus norvegicus (Rat) SS
P36364 Fgf9 Fibroblast growth factor 9 Rattus norvegicus (Rat) SS
P70492 Fgf10 Fibroblast growth factor 10 Rattus norvegicus (Rat) SS
Q6PBT8 fgf1 Putative fibroblast growth factor 1 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q2HXK8 fgf16 Fibroblast growth factor 16 Danio rerio (Zebrafish) (Brachydanio rerio) SS
P48802 fgf3 Fibroblast growth factor 3 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MWKWILTHCA SAFPHLPGCC CCCFLLLFLV SSVPVTCQAL GQDMVSPEAT NSSSSSFSSP
70 80 90 100 110 120
SSAGRHVRSY NHLQGDVRWR KLFSFTKYFL KIEKNGKVSG TKKENCPYSI LEITSVEIGV
130 140 150 160 170 180
VAVKAINSNY YLAMNKKGKL YGSKEFNNDC KLKERIEENG YNTYASFNWQ HNGRQMYVAL
190 200
NGKGAPRRGQ KTRRKNTSAH FLPMVVHS