Q9NSA1
Gene name |
FGF21 (UNQ3115/PRO10196) |
Protein name |
Fibroblast growth factor 21 |
Names |
FGF-21 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26291 |
EC number |
|
Protein Class |
|

Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

4 structures for Q9NSA1
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
5VAQ | X-ray | 261 A | C | 186-209 | PDB |
6M6E | NMR | - | A | 42-169 | PDB |
6M6F | NMR | - | A | 42-164 | PDB |
AF-Q9NSA1-F1 | Predicted | AlphaFoldDB |
214 variants for Q9NSA1
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA9557867 rs762567273 |
2 | D>V | No |
ClinGen ExAC gnomAD |
|
rs770606924 CA9557868 |
3 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406706505 rs1432613460 |
5 | E>D | No |
ClinGen gnomAD |
|
CA9557871 rs574758901 |
5 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9557872 rs752583273 |
6 | T>I | No |
ClinGen ExAC gnomAD |
|
rs143082272 CA9557875 CA9557876 |
7 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs373747907 CA9557878 |
8 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9557880 rs781395923 COSM94310 |
9 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1224993400 CA406706558 |
10 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA406706591 rs1199960284 |
13 | L>P | No |
ClinGen TOPMed |
|
CA309363242 rs976979026 |
18 | L>M | No |
ClinGen TOPMed |
|
rs1291526000 CA406706661 |
19 | A>V | No |
ClinGen TOPMed |
|
CA406706664 rs1219499744 |
20 | G>C | No |
ClinGen gnomAD |
|
rs368542265 CA9557883 |
23 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
CA406706706 COSM1712567 rs1240408972 |
24 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA9557886 rs773891074 |
25 | A>S | No |
ClinGen ExAC gnomAD |
|
CA309363258 rs924185822 |
26 | C>Y | No |
ClinGen TOPMed |
|
CA9557887 rs745319885 |
27 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs771480087 CA9557888 |
28 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1599769671 CA406706734 |
28 | A>V | No |
ClinGen Ensembl |
|
CA9557889 rs775124219 |
29 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs760498049 CA9557890 |
30 | P>S | No |
ClinGen ExAC gnomAD |
|
rs776517157 CA9557892 |
31 | I>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 32 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA406706787 rs1599769702 |
36 | P>L | No |
ClinGen Ensembl |
|
CA406706784 rs1378753078 |
36 | P>S | No |
ClinGen gnomAD |
|
CA406706789 rs1166694162 |
37 | L>F | No |
ClinGen gnomAD |
|
CA406706802 rs1457360424 |
39 | Q>* | No |
ClinGen gnomAD |
|
rs766639565 CA9557894 |
40 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309363291 rs915340719 |
41 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs755282525 CA9557896 |
42 | G>V | No |
ClinGen ExAC gnomAD |
|
CA406706869 rs1370762359 |
44 | V>A | No |
ClinGen gnomAD |
|
rs200208273 CA9557900 |
45 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs551483904 CA9557899 |
45 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA406706889 rs1173702665 |
46 | Q>L | No |
ClinGen TOPMed |
|
CA9557902 rs36123953 |
47 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs531768367 CA9557901 |
47 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 48 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1599769767 CA406706910 |
48 | Y>S | No |
ClinGen Ensembl |
|
CA406706922 rs1231357114 |
49 | L>I | No |
ClinGen gnomAD |
|
CA309363352 rs779402704 |
50 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406706939 rs1473901387 |
50 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs374756853 CA9557904 |
51 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA309363362 rs1057111019 |
51 | T>I | No |
ClinGen TOPMed |
|
rs771805912 CA9557905 |
53 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774822193 CA9557906 |
54 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9557907 rs746538552 |
54 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406707054 rs1465649236 |
59 | A>V | No |
ClinGen gnomAD |
|
rs368331867 CA9557909 |
62 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368331867 CA9557910 |
62 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1403049682 CA406707092 |
63 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1352344962 CA406707110 |
64 | R>K | No |
ClinGen gnomAD |
|
TCGA novel | 64 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs961083362 CA309363404 |
65 | E>K | No |
ClinGen TOPMed |
|
CA9557912 rs773104317 |
66 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309363406 rs993930473 |
67 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs372098035 CA406707161 |
68 | T>K | No |
ClinGen ESP |
|
rs372098035 CA9557914 |
68 | T>M | No |
ClinGen ESP |
|
rs1599769841 CA406707174 |
69 | V>A | No |
ClinGen Ensembl |
|
CA9557917 rs767816365 |
70 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9557919 TCGA novel rs756202748 |
71 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
rs756202748 CA406707193 |
71 | G>D | No |
ClinGen ExAC gnomAD |
|
CA309363436 rs1006645843 |
71 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs202109871 CA9557920 |
72 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1425597803 CA406707223 |
74 | D>G | No |
ClinGen gnomAD |
|
CA9557923 rs779125265 |
74 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406707217 rs779125265 |
74 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309363472 rs916828684 |
75 | Q>K | No |
ClinGen gnomAD |
|
rs1180149376 CA406707235 |
75 | Q>R | No |
ClinGen TOPMed |
|
CA406707246 rs1231853565 |
76 | S>N | No |
ClinGen TOPMed |
|
CA406707250 rs370864523 |
76 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs965607160 CA309363476 |
76 | S>R | No |
ClinGen TOPMed |
|
CA9557928 rs746450614 |
78 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs768906027 CA9557961 |
79 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1335622870 CA406707430 |
84 | K>E | No |
ClinGen TOPMed |
|
CA9557963 rs761964608 |
85 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs141977654 CA9557965 |
88 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1449169164 CA406707482 |
88 | P>S | No |
ClinGen gnomAD |
|
CA9557966 rs763425401 |
90 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs188734926 CA9557968 |
91 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs570444710 CA309364244 |
91 | I>T | No |
ClinGen Ensembl |
|
CA406707543 rs1272539725 |
93 | I>N | No |
ClinGen gnomAD |
|
TCGA novel | 95 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs369717276 CA9557969 |
96 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA406707582 rs1568493573 |
97 | K>Q | No |
ClinGen Ensembl |
|
CA9557970 rs767304819 |
99 | S>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 99 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1329137779 CA406707619 |
100 | R>G | No |
ClinGen gnomAD |
|
CA406707624 rs1468183124 |
100 | R>M | No |
ClinGen TOPMed |
|
COSM567142 CA9557971 rs752200625 |
100 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA9557972 rs150697022 |
101 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA406707655 rs1453031464 |
103 | C>G | No |
ClinGen gnomAD |
|
rs201244921 CA309364287 |
105 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA309364293 rs139679302 |
105 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9557974 rs139679302 |
105 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA9557973 rs201244921 |
105 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373169857 CA9557975 |
106 | P>S | No |
ClinGen ESP ExAC TOPMed |
|
CA9557976 rs778648482 |
108 | G>E | No |
ClinGen ExAC gnomAD |
|
CA406707717 rs1222108430 |
108 | G>R | No |
ClinGen TOPMed |
|
CA9557980 rs3745711 |
109 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs3745712 CA9557978 |
109 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9557979 rs3745711 |
109 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA406707759 rs1395979918 |
112 | G>R | No |
ClinGen gnomAD |
|
CA406707774 rs763483884 |
113 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9557984 rs763483884 |
113 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9557983 rs763483884 |
113 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758378232 CA9558014 |
115 | H>R | No |
ClinGen ExAC gnomAD |
|
CA9558013 rs750345629 |
115 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9558015 rs779864316 |
118 | P>A | No |
ClinGen ExAC gnomAD |
|
CA309365415 rs779864316 |
118 | P>S | No |
ClinGen ExAC gnomAD |
|
CA406707999 rs1426749771 |
119 | E>Q | No |
ClinGen gnomAD |
|
rs751339714 CA9558016 |
120 | A>T | No |
ClinGen ExAC gnomAD |
|
rs926393101 CA309365434 |
121 | C>* | No |
ClinGen TOPMed gnomAD |
|
CA406708044 rs1434357357 |
121 | C>Y | No |
ClinGen gnomAD |
|
rs142980324 CA406708106 |
124 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9558018 rs142980324 |
124 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756306204 CA9558017 |
124 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1289320708 CA406708115 |
125 | E>* | No |
ClinGen gnomAD |
|
rs147466868 CA406708132 |
126 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA406708165 rs1296592074 |
128 | L>F | No |
ClinGen TOPMed |
|
rs1379988301 CA406708184 |
129 | E>G | No |
ClinGen gnomAD |
|
COSM3735555 rs929425489 CA309365468 |
131 | G>R | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs1320476025 CA406708245 |
133 | N>D | No |
ClinGen TOPMed |
|
rs779194038 CA9558021 |
133 | N>S | No |
ClinGen ExAC gnomAD |
|
CA9558024 rs775884928 |
137 | S>P | No |
ClinGen ExAC gnomAD |
|
rs1453934850 CA406708296 |
138 | E>G | No |
ClinGen gnomAD |
|
rs375892369 CA9558026 |
138 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs375892369 CA9558027 |
138 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 140 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs41308776 CA9558029 VAR_055375 |
141 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9558030 rs144978172 |
142 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762834260 CA9558031 |
143 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406708360 rs1599772317 |
145 | H>P | No |
ClinGen Ensembl |
|
rs1371086194 CA406708367 |
145 | H>Q | No |
ClinGen gnomAD |
|
rs751306574 CA9558033 |
145 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA9558034 rs754736990 |
147 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1378656774 CA406708416 |
150 | K>N | No |
ClinGen gnomAD |
|
rs754101733 CA9558036 |
152 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1315553668 CA406708455 |
153 | H>P | No |
ClinGen gnomAD |
|
rs779105985 CA9558038 |
154 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9558037 rs112120725 |
154 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs371046094 CA309365563 |
155 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
CA309365574 rs1009354409 |
156 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs745977503 CA9558039 |
157 | A>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 157 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745977503 CA406708508 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
rs780439354 CA9558042 |
158 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780439354 CA9558041 |
158 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9558044 rs777100377 |
159 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1661852 CA9558046 rs371068639 |
159 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA9558047 rs772658085 |
160 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1395141382 CA406709174 |
160 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA9558048 rs540715300 |
162 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9558049 rs540715300 |
162 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1401959279 CA406709218 |
163 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA9558050 COSM269170 rs374501551 |
163 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
rs759579781 CA9558051 |
164 | F>S | No |
ClinGen ExAC gnomAD |
|
CA309365704 rs1023366244 |
165 | L>P | No |
ClinGen gnomAD |
|
CA406709253 rs1230403999 |
166 | P>A | No |
ClinGen gnomAD |
|
CA406709439 rs1386529931 |
167 | L>P | No |
ClinGen TOPMed |
|
rs1294375928 CA406709467 |
169 | G>D | No |
ClinGen gnomAD |
|
rs559156552 CA9558052 |
170 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9558056 rs752583057 |
171 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752583057 CA9558055 |
171 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9558059 rs758403141 |
172 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9558058 rs765579156 |
172 | P>S | No |
ClinGen ExAC gnomAD |
|
CA9558057 rs765579156 |
172 | P>T | No |
ClinGen ExAC gnomAD |
|
CA406709502 rs376996120 |
173 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376996120 CA9558062 |
173 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1231451873 CA406709513 |
173 | A>V | No |
ClinGen gnomAD |
|
CA9558064 rs739320 |
174 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9558063 VAR_049064 rs739320 |
174 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374311260 CA9558066 |
175 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs374311260 CA9558067 COSM365740 |
175 | P>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs374311260 CA406709545 |
175 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs769374090 CA9558065 |
175 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1301136713 CA406709546 |
176 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA309365797 rs3745708 |
178 | P>L | No |
ClinGen Ensembl |
|
rs200685930 CA9558070 |
179 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9558072 rs775377031 |
182 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1313895716 CA406709657 |
183 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs868452579 CA309365835 |
183 | P>S | No |
ClinGen Ensembl |
|
CA406709684 rs750659131 |
185 | P>A | No |
ClinGen ExAC gnomAD |
|
CA9558075 rs750659131 |
185 | P>S | No |
ClinGen ExAC gnomAD |
|
rs983618958 CA406709704 |
186 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs983618958 CA309365843 |
186 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA9558076 rs758694383 |
186 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9558078 rs375785872 |
187 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs755387755 CA9558079 |
189 | G>D | No |
ClinGen ExAC gnomAD |
|
rs781670890 CA9558080 |
191 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778172084 CA9558083 |
194 | L>P | No |
ClinGen ExAC gnomAD |
|
rs933317607 CA309365859 |
195 | S>N | No |
ClinGen TOPMed |
|
rs1475419704 CA406709848 |
195 | S>R | No |
ClinGen gnomAD |
|
CA9558086 rs773698761 |
196 | M>I | No |
ClinGen ExAC gnomAD |
|
CA9558084 rs748872169 |
196 | M>R | No |
ClinGen ExAC gnomAD |
|
CA9558085 rs748872169 |
196 | M>T | No |
ClinGen ExAC gnomAD |
|
CA406709888 rs1436175854 |
197 | V>A | No |
ClinGen gnomAD |
|
rs1051839058 CA309365884 |
198 | G>E | No |
ClinGen TOPMed |
|
CA406709896 rs1173924254 |
198 | G>R | No |
ClinGen gnomAD |
|
CA9558087 rs745406911 |
199 | P>L | No |
ClinGen ExAC gnomAD |
|
CA406709905 rs1375217582 |
199 | P>T | No |
ClinGen gnomAD |
|
CA9558088 rs778495177 |
200 | S>F | No |
ClinGen ExAC gnomAD |
|
CA406709921 rs1208748417 |
200 | S>P | No |
ClinGen gnomAD |
|
CA309365891 rs964395738 |
201 | Q>H | No |
ClinGen Ensembl |
|
rs775575253 CA9558089 |
202 | G>C | No |
ClinGen ExAC gnomAD |
|
CA9558090 rs760751014 |
203 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs202104197 CA9558091 |
203 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA406709977 rs1369877615 |
204 | S>N | No |
ClinGen gnomAD |
|
CA406709983 rs1235254222 |
204 | S>R | No |
ClinGen gnomAD |
|
CA9558093 rs571891800 |
206 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9558092 rs776608911 |
206 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759663403 CA9558096 |
208 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201833005 CA406710047 |
208 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201833005 CA9558095 |
208 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q9NSA1
No regional properties for Q9NSA1
Type | Name | Position | InterPro Accession |
---|---|---|---|
No domain, repeats, and functional sites for Q9NSA1 |
3 GO annotations of cellular component
Name | Definition |
---|---|
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. |
2 GO annotations of molecular function
Name | Definition |
---|---|
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. |
27 GO annotations of biological process
Name | Definition |
---|---|
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. |
cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
cellular response to glucagon stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucagon stimulus. |
cellular response to glucose stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. |
cellular response to low-density lipoprotein particle stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a low-density lipoprotein particle stimulus. |
cellular response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
endothelial cell apoptotic process | Any apoptotic process in an endothelial cell. An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. |
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. |
negative regulation of endothelial cell apoptotic process | Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process. |
negative regulation of neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of neuron death. |
positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
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 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 glucose import | Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. |
positive regulation of low-density lipoprotein receptor activity | Any process that activates or increases the frequency, rate or extent of low-density lipoprotein receptor activity. |
positive regulation of MAPKKK cascade by 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 resulting in an increase in the rate or frequency of a MAPKKK cascade. |
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 triglyceride catabolic process | Any process that increases the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of triglyceride. |
regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
regulation of low-density lipoprotein particle clearance | Any process that modulates the rate, frequency or extent of low-density lipoprotein particle clearance. Low-density lipoprotein particle clearance is the process in which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. |
response to activity | 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 an activity stimulus. |
response to methionine | 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 a methionine stimulus. |
response to nutrient levels | 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 a stimulus reflecting the presence, absence, or concentration of nutrients. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
28 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P48801 | FGF3 | Fibroblast growth factor 3 | Gallus gallus (Chicken) | SS |
O15520 | FGF10 | Fibroblast growth factor 10 | Homo sapiens (Human) | 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 |
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 |
O35565 | Fgf10 | Fibroblast growth factor 10 | Mus musculus (Mouse) | SS |
P54130 | Fgf9 | Fibroblast growth factor 9 | Mus musculus (Mouse) | SS |
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 |
Q9JJN1 | Fgf21 | Fibroblast growth factor 21 | Mus musculus (Mouse) | PR |
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 |
MDSDETGFEH | SGLWVSVLAG | LLLGACQAHP | IPDSSPLLQF | GGQVRQRYLY | TDDAQQTEAH |
70 | 80 | 90 | 100 | 110 | 120 |
LEIREDGTVG | GAADQSPESL | LQLKALKPGV | IQILGVKTSR | FLCQRPDGAL | YGSLHFDPEA |
130 | 140 | 150 | 160 | 170 | 180 |
CSFRELLLED | GYNVYQSEAH | GLPLHLPGNK | SPHRDPAPRG | PARFLPLPGL | PPALPEPPGI |
190 | 200 | ||||
LAPQPPDVGS | SDPLSMVGPS | QGRSPSYAS |