AiPD: Autoinhibited Protein Database

P11487

Gene name	FGF3 (INT2)
Protein name	Fibroblast growth factor 3
Names	FGF-3 , Heparin-binding growth factor 3 , HBGF-3 , Proto-oncogene Int-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2248
EC number
Protein Class

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)

35-42 (N-terminal helix) SS

Target domain	45-181 (beta-trefoil core)
Relief mechanism
Assay

AID

35-42 (N-terminal helix)

Target domain

45-181 (beta-trefoil core)

Relief mechanism

Assay

Accessory elements

No accessory elements

References

Plotnikov AN et al. (2001) "Crystal structure of fibroblast growth factor 9 reveals regions implicated in dimerization and autoinhibition", The Journal of biological chemistry, 276, 4322-9

Autoinhibited structure

Activated structure

1 structures for P11487

Entry ID	Method	Resolution	Chain	Position	Source
AF-P11487-F1	Predicted				AlphaFoldDB

452 variants for P11487

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000014853 VAR_060492 CA341312 rs121917706	6	L>P	Deafness with labyrinthine aplasia, microtia, and microdontia LAMM; probably impairs secretion [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1039515359 CA223501132 RCV000763765 RCV000489136	34	G>C	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA342711 rs281860300 RCV000022692 RCV001851999	49	Y>C	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs281860301 CA343025 RCV000031938	50	C>*	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs782324453 RCV002051935 RCV001291550	56	L>F	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000014852 CA341310 rs121917705	66	G>C	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000014854 rs281860302 CA341313	85	I>missing	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs1554981083 RCV000477891 CA16616921	91	L>missing	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar dbSNP
CA343027 COSM467345 rs281860303 RCV000031939 RCV000485154	95	R>W	kidney Deafness with labyrinthine aplasia, microtia, and microdontia Variant assessed as Somatic; MODERATE impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV003441717 RCV000014850 rs121917704 CA341307 RCV003398511	104	R>*	Variant assessed as Somatic; HIGH impact. Deafness with labyrinthine aplasia, microtia, and microdontia FGF3-related condition [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000022693 CA342713 rs281860306	106	Y>C	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs281860304 RCV000031940 CA343029	132	R>missing	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV002222962 rs2119905910	144	R>missing	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinVar dbSNP
rs281860307 CA342715 RCV000022694	153	W>missing	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV000770820 rs782712529	154	Y>*	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000014849 rs121917703 VAR_031848 CA341306	156	S>P	Deafness with labyrinthine aplasia, microtia, and microdontia LAMM [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP
RCV001933598 RCV002561379 rs369547972	190	M>I	Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs281860305 CA341309 RCV000014851	206	V>missing	Deafness with labyrinthine aplasia, microtia, and microdontia [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs1554981459	2	G>V		No	gnomAD
rs1856191685	4	I>T		No	gnomAD
rs1169754382	5	W>*		No	TOPMed gnomAD
rs2119940954	5	W>G		No	Ensembl
rs1554981458	6	L>M		No	gnomAD
rs1856191418	7	L>P		No	Ensembl
rs1463172702	8	L>P		No	TOPMed gnomAD
rs1590966010	8	L>V		No	TOPMed gnomAD
rs1554981448	13	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs782504234	14	P>S		No	ExAC gnomAD
rs1554981444	15	G>D		No	gnomAD
rs781913822	15	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs1554981438	16	W>C		No	TOPMed gnomAD
rs1554981435	17	P>L		No	gnomAD
rs1554981437	17	P>S		No	gnomAD
rs1554981437	17	P>T		No	gnomAD
rs1554981434	18	A>S		No	gnomAD
rs1554981434	18	A>T		No	gnomAD
rs1214505914	18	A>V		No	TOPMed gnomAD
rs1554981433	19	A>S		No	gnomAD
rs868984673	19	A>V		No	gnomAD
rs782813347	20	G>D		No	ExAC TOPMed gnomAD
rs1554981430	20	G>R		No	gnomAD
rs1554981430	20	G>S		No	gnomAD
rs782813347	20	G>V		No	ExAC TOPMed gnomAD
rs1554981428	21	P>L		No	gnomAD
rs1234725536	22	G>R		No	TOPMed
rs1554981425	23	A>T		No	TOPMed gnomAD
TCGA novel	23	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554981422	24	R>L		No	TOPMed gnomAD
rs1554981422	24	R>P		No	TOPMed gnomAD
rs1554981422 RCV002274579	24	R>Q		No	ClinVar TOPMed dbSNP gnomAD
rs1450818144	24	R>W		No	TOPMed
rs2119940482	25	L>V		No	Ensembl
rs1219180577	25	L>W		No	TOPMed
rs781923153	26	R>G		No	ExAC TOPMed gnomAD
rs782733556	26	R>Q		No	ExAC gnomAD
rs781923153	26	R>W		No	ExAC TOPMed gnomAD
rs1554981421	27	R>C		No	TOPMed gnomAD
rs1554981421	27	R>G		No	TOPMed gnomAD
rs903107353	27	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1554981421	27	R>S		No	TOPMed gnomAD
rs2119940359	28	D>E		No	Ensembl
rs1856189451	28	D>N		No	TOPMed gnomAD
rs1856189451	28	D>Y		No	TOPMed gnomAD
rs781998314	29	A>E		No	ExAC TOPMed gnomAD
rs781998314	29	A>G		No	ExAC TOPMed gnomAD
rs1554981418	29	A>S		No	gnomAD
rs1554981418	29	A>T		No	gnomAD
rs781998314	29	A>V		No	ExAC TOPMed gnomAD
rs901877047	30	G>D		No	TOPMed gnomAD
rs1554981415	31	G>A		No	gnomAD
rs1554981416	31	G>C		No	gnomAD
rs1554981416	31	G>S		No	gnomAD
rs1554981415	31	G>V		No	gnomAD
rs1554981414	32	R>G		No	gnomAD
rs1856188864	33	G>C		No	1000Genomes gnomAD
TCGA novel rs1856188808	33	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1856188864	33	G>R		No	1000Genomes gnomAD
rs1856188864	33	G>S		No	1000Genomes gnomAD
rs2119940139	34	G>V		No	Ensembl
rs1554981410	35	V>A		No	gnomAD
rs1430586811	35	V>F		No	TOPMed gnomAD
rs1554981410	35	V>G		No	gnomAD
rs1430586811	35	V>I		No	TOPMed gnomAD
rs1856188192	36	Y>H		No	TOPMed
rs2119940064	36	Y>S		No	Ensembl
rs1856188085	37	E>D		No	TOPMed
rs2119940049	37	E>G		No	Ensembl
rs1296941402	37	E>Q		No	TOPMed gnomAD
rs2119940027	38	H>P		No	Ensembl
rs1856188048	39	L>P		No	TOPMed
rs1554981406	40	G>R		No	TOPMed gnomAD
rs1856187899	41	G>R		No	TOPMed gnomAD
rs1856187899	41	G>W		No	TOPMed gnomAD
rs1856187789	42	A>T		No	Ensembl
rs2119939901	43	P>R		No	Ensembl
rs1554981402	43	P>S		No	gnomAD
rs1856187532	44	R>P		No	TOPMed
TCGA novel rs1856187532	44	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1856187578 COSM1207071	44	R>W	large_intestine [Cosmic]	No	cosmic curated TOPMed
rs782297586	45	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs782297586	45	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs1856187402	45	R>P		No	TOPMed
rs782297586	45	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs887922825	46	R>H		No	TOPMed
rs887922825	46	R>L		No	TOPMed
rs887922825	46	R>P		No	TOPMed
rs1317320809	47	K>N		No	TOPMed gnomAD
rs2119939696	47	K>Q		No	Ensembl
rs2119939658	48	L>P		No	Ensembl
rs281860300	49	Y>F		No	gnomAD
rs782014417	51	A>S		No	ExAC TOPMed gnomAD
rs782014417	51	A>T		No	ExAC TOPMed gnomAD
rs1856186955	52	T>A		No	TOPMed gnomAD
rs1699607734	52	T>M		No	gnomAD
rs1856186955	52	T>S		No	TOPMed gnomAD
rs2119939585	54	Y>D		No	Ensembl
rs2119939573	54	Y>S		No	Ensembl
rs1260985899	55	H>N		No	TOPMed
rs2119939533	55	H>P		No	Ensembl
rs2119939523	55	H>Q		No	Ensembl
rs782324453	56	L>I		No	ExAC TOPMed gnomAD
rs2119939500	56	L>P		No	Ensembl
rs2119939483	57	Q>H		No	Ensembl
rs2119939431	59	H>P		No	Ensembl
rs1188817570	59	H>Q		No	gnomAD
rs1856186639	60	P>A		No	Ensembl
rs1049232873	60	P>L		No	TOPMed gnomAD
rs1856186639	60	P>S		No	Ensembl
rs1554981393	61	S>R		No	TOPMed gnomAD
rs1554981392	63	R>C		No	gnomAD
rs929527246	63	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2119939272	64	V>A		No	Ensembl
rs2119939272	64	V>D		No	Ensembl
rs2119939272	64	V>G		No	Ensembl
rs2119939285	64	V>I		No	Ensembl
rs1471911794	65	N>K		No	gnomAD
rs1554981387	66	G>D		No	gnomAD
rs121917705	66	G>S		No	gnomAD
rs2119939215	67	S>G		No	Ensembl
rs782172938	68	L>P		No	ExAC TOPMed gnomAD
TCGA novel	69	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1856185906	70	N>S		No	Ensembl
rs1554981385	71	S>N		No	TOPMed gnomAD
rs2119939173	71	S>R		No	Ensembl
rs1409151454	71	S>R		No	TOPMed
rs1419524448	72	A>T		No	TOPMed gnomAD
rs1554981382	74	S>G		No	gnomAD
rs781984680 RCV002050942	74	S>N		No	ClinVar ExAC dbSNP gnomAD
rs782421361	75	I>V		No	ExAC gnomAD
rs2119930418	76	L>F		No	Ensembl
rs1554981088	77	E>*		No	gnomAD
rs782286821	78	I>M		No	ExAC gnomAD
COSM357713 rs1768202816	79	T>M	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1768202816	79	T>R		No	TOPMed gnomAD
rs2119930352	80	A>G		No	Ensembl
rs914127415	81	V>G		No	Ensembl
rs782315409	81	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs146864055	82	E>G		No	ExAC gnomAD
rs1856133969	82	E>K		No	gnomAD
rs988287639	83	V>E		No	gnomAD
rs988287639	83	V>G		No	gnomAD
rs1381894272	83	V>L		No	TOPMed gnomAD
rs1381894272	83	V>M		No	TOPMed gnomAD
rs1856133641	85	I>M		No	Ensembl
rs2119930159	87	A>T		No	Ensembl
rs1450391872	88	I>F		No	TOPMed gnomAD
rs1554981085	90	G>C		No	gnomAD
rs1554981085	90	G>S		No	gnomAD
rs1856133378	91	L>F		No	Ensembl
TCGA novel	92	F>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV003479210 RCV000732331 rs782507721	94	G>R		No	ExAC TOPMed gnomAD ClinVar dbSNP
COSM3670883 rs782507721	94	G>W	Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
rs558206333	95	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1204634476	96	Y>*		No	TOPMed gnomAD
rs782535318	96	Y>D		No	ExAC gnomAD
rs782535318	96	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1856132980	98	A>T		No	Ensembl
rs2119929922	98	A>V		No	Ensembl
rs2119929910 COSM544870	99	M>I	lung [Cosmic]	No	cosmic curated Ensembl
rs1554981078	101	K>E		No	gnomAD
rs61623544 RCV000956977	101	K>N		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782695249	102	R>K		No	ExAC TOPMed gnomAD
rs782695249	102	R>M		No	ExAC TOPMed gnomAD
rs782695249	102	R>T		No	ExAC TOPMed gnomAD
rs1184649905	102	R>W		No	TOPMed
rs2119929819	103	G>A		No	Ensembl
rs2119929819	103	G>E		No	Ensembl
COSM4036244	103	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2119929819	103	G>V		No	Ensembl
RCV001723358 rs2119929795	104	R>missing		No	ClinVar dbSNP
rs150581924	104	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs150581924	104	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs150581924 COSM1298534	104	R>Q	Variant assessed as Somatic; MODERATE impact. pancreas urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1856132437	105	L>F		No	gnomAD
rs1856132408	105	L>H		No	gnomAD
rs1856132437	105	L>I		No	gnomAD
rs782098384	106	Y>*		No	TOPMed gnomAD
RCV002036650 rs782160613	106	Y>D		No	ClinVar ExAC dbSNP gnomAD
rs782160613	106	Y>H		No	ExAC gnomAD
rs1856132140	107	A>G		No	TOPMed
rs1856132180	107	A>T		No	Ensembl
COSM4832389 rs143593259	108	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs143593259	108	S>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs934635153	109	E>G		No	Ensembl
rs1052333347	109	E>K		No	TOPMed gnomAD
TCGA novel	110	H>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs1554980383	110	H>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	gnomAD NCI-TCGA
rs1856015409	110	H>Y		No	TOPMed gnomAD
rs1856015243	111	Y>C		No	TOPMed
rs1554980380	111	Y>H		No	gnomAD
rs1856015092	112	S>G		No	Ensembl
rs781938977	113	A>T		No	ExAC TOPMed gnomAD
rs1856014812	114	E>A		No	TOPMed
rs782234525	114	E>D		No	ExAC gnomAD
rs147952743	114	E>K		No	ExAC TOPMed gnomAD
rs147952743	114	E>Q		No	ExAC TOPMed gnomAD
rs116162988	115	C>W		No	1000Genomes ExAC gnomAD
rs2119906665 RCV001902515	116	E>D		No	ClinVar Ensembl dbSNP
rs79472069	116	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs79472069	116	E>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM1284963	117	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2119906656	117	F>V		No	Ensembl
rs1856014513	118	V>L		No	TOPMed
rs1856014513	118	V>M		No	TOPMed
rs546096461	119	E>*		No	1000Genomes ExAC gnomAD
rs376445217	120	R>G		No	ESP ExAC TOPMed gnomAD
rs571671602 COSM690207	120	R>Q	lung [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs376445217	120	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs144384566	121	I>N		No	ESP TOPMed gnomAD
rs144384566	121	I>S		No	ESP TOPMed gnomAD
COSM239872	122	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM320416 rs1239990487	122	H>Q	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1856013992	123	E>*		No	gnomAD
rs2119906531	123	E>G		No	Ensembl
COSM3452645 rs1856013992	123	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs2119906531	123	E>V		No	Ensembl
COSM3452644	125	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1462325550	125	G>S		No	TOPMed gnomAD
rs2119906459 RCV001758371	126	Y>S		No	ClinVar Ensembl dbSNP
rs1856013778	127	N>K		No	TOPMed gnomAD
rs782768201 COSM931407	128	T>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs2119906444	128	T>S		No	Ensembl
RCV001957560 rs781892148	129	Y>C		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1442579536	130	A>T		No	TOPMed gnomAD
rs372402801	132	R>G		No	ESP ExAC TOPMed gnomAD
rs1408695395	132	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs372402801	132	R>W		No	ESP ExAC TOPMed gnomAD
rs149649414	133	L>Q		No	ESP
rs1554980371	134	Y>C		No	gnomAD
rs1408391209	134	Y>H		No	TOPMed gnomAD
rs1554980371	134	Y>S		No	gnomAD
rs574433541	135	R>G		No	1000Genomes ExAC TOPMed gnomAD
COSM1356618 rs199801193 RCV001985977	135	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs574433541	135	R>W		No	1000Genomes ExAC TOPMed gnomAD
COSM5743486 RCV002042569 rs782272422	136	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1856012196	136	T>S		No	Ensembl
rs1280624808	137	V>A		No	TOPMed gnomAD
rs147515396	137	V>L		No	ESP gnomAD
TCGA novel	137	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782309646	139	S>R		No	ExAC gnomAD
COSM2043525 rs782226740	140	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1590961542	140	T>P		No	Ensembl
rs1856011350	141	P>L		No	gnomAD
COSM415761	141	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2119906027	141	P>S		No	Ensembl
rs782459734	142	G>A		No	ExAC TOPMed gnomAD
rs782459734	142	G>V		No	ExAC TOPMed gnomAD
rs1590961513	143	A>P		No	Ensembl
rs1590961513	143	A>S		No	Ensembl
rs1554980363	143	A>V		No	gnomAD
rs1242191483	144	R>C		No	1000Genomes TOPMed gnomAD
rs781807006	144	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs781807006	144	R>L		No	ExAC TOPMed gnomAD
rs781807006	144	R>P		No	ExAC TOPMed gnomAD
rs577116996	145	R>G		No	1000Genomes ExAC gnomAD
rs782088765	145	R>P		No	ExAC TOPMed gnomAD
rs782088765	145	R>Q		No	ExAC TOPMed gnomAD
rs577116996	145	R>W		No	1000Genomes ExAC gnomAD
rs2119905809	146	Q>*		No	Ensembl
rs2119905778	147	P>A		No	Ensembl
rs1004481058	147	P>R		No	gnomAD
rs2119905778	147	P>S		No	Ensembl
rs2119905756	148	S>N		No	Ensembl
rs566764532	148	S>R		No	ExAC TOPMed gnomAD
rs1856009986	149	A>G		No	gnomAD
rs1156753470	149	A>S		No	TOPMed gnomAD
COSM244517 rs1156753470	149	A>T	Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs200088042	150	E>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1554980352	150	E>D		No	gnomAD
rs200088042	150	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200088042	150	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782008134	151	R>I		No	ExAC gnomAD
rs782008134	151	R>K		No	ExAC gnomAD
rs1554980351	152	L>P		No	gnomAD
rs2119905631	153	W>R		No	Ensembl
rs1590961462	154	Y>D		No	Ensembl
rs1856009639	154	Y>F		No	Ensembl
rs143483033	155	V>L		No	ESP ExAC TOPMed gnomAD
RCV001972912 rs143483033	155	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1856009462	156	S>C		No	Ensembl
rs2119905490	158	N>D		No	Ensembl
TCGA novel	158	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1856009359	158	N>I		No	TOPMed gnomAD
rs1856009359	158	N>S		No	TOPMed gnomAD
rs1554980341	159	G>D		No	gnomAD
rs138021053	159	G>R		No	ESP TOPMed gnomAD
rs138021053	159	G>S		No	ESP TOPMed gnomAD
rs2119905392	160	K>M		No	Ensembl
rs1554980339	160	K>Q		No	gnomAD
rs2119905392	160	K>R		No	Ensembl
rs782403025	162	R>G		No	ExAC TOPMed gnomAD
rs782194323	162	R>L		No	ExAC gnomAD
rs782194323	162	R>Q		No	ExAC gnomAD
rs782403025	162	R>W		No	ExAC TOPMed gnomAD
rs2119905307	163	P>A		No	Ensembl
TCGA novel	163	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2119905307	163	P>S		No	Ensembl
rs1335560620	164	R>C		No	TOPMed gnomAD
rs782573423	164	R>H		No	ExAC gnomAD
rs2119905252	166	G>D		No	Ensembl
rs1440586250	166	G>S		No	TOPMed gnomAD
rs2119905217	167	F>I		No	Ensembl
rs1590961399	167	F>L		No	Ensembl
rs2119905217	167	F>L		No	Ensembl
rs2119905185	168	K>E		No	Ensembl
rs1554980334	168	K>R		No	gnomAD
rs782653936	169	T>A		No	ExAC gnomAD
rs782653936	169	T>P		No	ExAC gnomAD
rs782653936	169	T>S		No	ExAC gnomAD
rs782512706	170	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782512706	170	R>G		No	ExAC TOPMed gnomAD
rs782801923 RCV002247835	170	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs782801923	170	R>L		No	ExAC TOPMed gnomAD
rs782512706	170	R>S		No	ExAC TOPMed gnomAD
rs1262110871	171	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs35983315	171	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1262110871	171	R>S		No	TOPMed gnomAD
rs7110221	173	Q>L		No	Ensembl
rs782745138	174	K>N		No	ExAC TOPMed gnomAD
rs2119904975	175	S>C		No	Ensembl
RCV001963896 rs2119904986	175	S>T		No	ClinVar Ensembl dbSNP
COSM4498791	176	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2119904961	176	S>Y		No	Ensembl
rs782081344	178	F>L		No	ExAC gnomAD
rs782000580	180	P>H		No	ExAC gnomAD
rs1554980328	180	P>T		No	gnomAD
rs782761826 COSM1207072	181	R>C	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM4908522 rs782147248	181	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs782147248	181	R>L		No	ExAC gnomAD
rs782147248	181	R>P		No	ExAC gnomAD
rs781935233	182	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782314755	183	L>P		No	ExAC TOPMed gnomAD
rs782227926	184	D>A		No	ExAC TOPMed gnomAD
rs782227926	184	D>G		No	ExAC TOPMed gnomAD
COSM931406	184	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782227926	184	D>V		No	ExAC TOPMed gnomAD
rs143175848	185	H>P		No	ESP ExAC TOPMed gnomAD
rs1554980325	186	R>G		No	gnomAD
rs1554980324	187	D>E		No	gnomAD
rs1856007279	187	D>N		No	TOPMed gnomAD
TCGA novel	187	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs113473565	188	H>Q		No	ExAC TOPMed gnomAD
rs1554980323	188	H>R		No	gnomAD
rs868995912 COSM3452643	189	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1590961340	190	M>T		No	TOPMed
rs1168737490	192	R>Q		No	TOPMed gnomAD
rs1856006880	192	R>W		No	Ensembl
rs1554980319	194	L>V		No	gnomAD
rs2119904571	195	Q>*		No	Ensembl
rs115545058	195	Q>H		No	1000Genomes ExAC TOPMed gnomAD
rs1590961319	196	S>R		No	Ensembl
rs754817690	197	G>E		No	TOPMed gnomAD
rs1554980318	198	L>V		No	gnomAD
TCGA novel	199	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1305463722	200	R>*		No	TOPMed gnomAD
rs1305463722	200	R>G		No	TOPMed gnomAD
rs1554980316	200	R>K		No	gnomAD
rs2119904470	200	R>S		No	Ensembl
rs782556280	201	P>A		No	ExAC TOPMed gnomAD
rs1405021536	201	P>L		No	Ensembl
rs782556280	201	P>S		No	ExAC TOPMed gnomAD
rs782491968	202	P>S		No	ExAC TOPMed gnomAD
rs547457011	203	G>R		No	1000Genomes TOPMed
rs547457011	203	G>S		No	1000Genomes TOPMed
rs781819367	204	K>T		No	ExAC gnomAD
rs782503976	206	V>A		No	ExAC gnomAD
rs535882027	206	V>F		No	1000Genomes gnomAD
rs782503976	206	V>G		No	ExAC gnomAD
rs535882027	206	V>I		No	1000Genomes gnomAD
rs535882027	206	V>L		No	1000Genomes gnomAD
rs2119904227	207	Q>*		No	Ensembl
rs910069209	208	P>S		No	TOPMed gnomAD
rs374453035 RCV000732848	209	R>*		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs782047997	209	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs115452181 COSM2152180 RCV000906162	210	R>Q	central_nervous_system [Cosmic]	No	cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs369755339	210	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1554980307	211	R>G		No	TOPMed gnomAD
rs1221660991	211	R>L		No	TOPMed gnomAD
rs1221660991	211	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1554980307	211	R>W		No	TOPMed gnomAD
rs1554980306	212	R>G		No	gnomAD
rs377265856	212	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs377265856	212	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1554980306	212	R>W		No	gnomAD
rs2119904032	213	Q>*		No	Ensembl
rs2119904032	213	Q>E		No	Ensembl
rs2119904023	215	Q>*		No	Ensembl
rs1554980302	216	S>N		No	gnomAD
rs367789711	216	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs781929547	217	P>L		No	ExAC TOPMed gnomAD
rs781929547	217	P>R		No	ExAC TOPMed gnomAD
rs1424524679	218	D>E		No	TOPMed
rs2119903929	218	D>G		No	Ensembl
rs2119903939 COSM1356616	218	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1554980299	219	N>D		No	gnomAD
TCGA novel	220	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554980298	220	L>P		No	gnomAD
RCV001756275 rs1554980298	220	L>R		No	ClinVar dbSNP gnomAD
rs1554980296	221	E>D		No	TOPMed gnomAD
rs2119903871	221	E>G		No	Ensembl
rs1387906058	223	S>F		No	gnomAD
rs782607197 COSM1356615	223	S>P	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs751354293	224	H>P		No	Ensembl
rs375708730	224	H>Q		No	gnomAD
rs2119903783	225	V>D		No	Ensembl
rs782246758	225	V>F		No	ExAC TOPMed gnomAD
rs782246758 RCV001987019 COSM429762	225	V>I	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs782683196	227	A>T		No	ExAC TOPMed gnomAD
rs782454437	228	S>L		No	ExAC gnomAD
rs782554596	229	R>I		No	gnomAD
rs782554596	229	R>K		No	gnomAD
rs782554596	229	R>T		No	gnomAD
rs1554980292	230	L>R		No	gnomAD
rs782612620	230	L>V		No	ExAC TOPMed gnomAD
TCGA novel	231	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3452641	232	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2119903700	232	S>P		No	Ensembl
rs2119903700	232	S>T		No	Ensembl
rs782483681	233	Q>*		No	ExAC
rs2119903660	233	Q>H		No	Ensembl
rs782483681	233	Q>K		No	ExAC
rs781875396	234	L>P		No	ExAC gnomAD
rs2119903615	235	E>G		No	Ensembl
rs1554980287	235	E>K		No	gnomAD
rs2119903615	235	E>V		No	Ensembl
rs1359915834	236	A>G		No	TOPMed gnomAD
rs1359915834	236	A>V		No	TOPMed gnomAD
rs1856002609	237	S>G		No	TOPMed
rs782781457	237	S>T		No	ExAC gnomAD
rs782166974	238	A>E		No	ExAC TOPMed gnomAD
rs782166974	238	A>V		No	ExAC TOPMed gnomAD
rs1554980283	240	H>Q		No	gnomAD

1 associated diseases with P11487

[MIM: 610706]: Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). . Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for P11487

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P11487

Functions

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

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.

12 GO annotations of biological process

Name	Definition
anatomical structure morphogenesis	The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
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 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.
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.
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 cardiac muscle tissue development	Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development.
positive regulation of cell division	Any process that activates or increases the frequency, rate or extent of cell division.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
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 protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
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
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
O35565	Fgf10	Fibroblast growth factor 10	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
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
MGLIWLLLLS	LLEPGWPAAG	PGARLRRDAG	GRGGVYEHLG	GAPRRRKLYC	ATKYHLQLHP
70	80	90	100	110	120
SGRVNGSLEN	SAYSILEITA	VEVGIVAIRG	LFSGRYLAMN	KRGRLYASEH	YSAECEFVER
130	140	150	160	170	180
IHELGYNTYA	SRLYRTVSST	PGARRQPSAE	RLWYVSVNGK	GRPRRGFKTR	RTQKSSLFLP
190	200	210	220	230
RVLDHRDHEM	VRQLQSGLPR	PPGKGVQPRR	RRQKQSPDNL	EPSHVQASRL	GSQLEASAH