AiPD: Autoinhibited Protein Database

Q9NP95

Gene name	FGF20
Protein name	Fibroblast growth factor 20
Names	FGF-20
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26281
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.

Autoinhibitory domains (AIDs)

56-63 (N-terminal helix) SS

Target domain	66-193 (beta-trefoil core)
Relief mechanism
Assay

AID

56-63 (N-terminal helix)

Target domain

66-193 (beta-trefoil core)

Relief mechanism

Assay

203-206 (C-terminal helix) SS

Target domain	66-193 (beta-trefoil core)
Relief mechanism
Assay

AID

203-206 (C-terminal helix)

Target domain

66-193 (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

2 structures for Q9NP95

Entry ID	Method	Resolution	Chain	Position	Source
3F1R	X-ray	250 A	A/B	1-211	PDB
AF-Q9NP95-F1	Predicted				AlphaFoldDB

344 variants for Q9NP95

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000114397 CA151162 rs587777282	113	V>missing	Renal hypodysplasia/aplasia 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs1384485178	2	A>P		No	TOPMed
rs1266965416	2	A>V		No	gnomAD
rs1456038983	3	P>S		No	TOPMed
rs866476790	5	A>S		No	Ensembl
rs774980310	6	E>D		No	TOPMed gnomAD
rs1810201095	7	V>A		No	Ensembl
rs1328342914	8	G>A		No	gnomAD
rs1236847607	8	G>R		No	TOPMed gnomAD
rs764133199	9	G>A		No	ExAC TOPMed gnomAD
rs764133199	9	G>D		No	ExAC TOPMed gnomAD
rs971587907	9	G>S		No	TOPMed gnomAD
rs764133199	9	G>V		No	ExAC TOPMed gnomAD
rs1382423605	10	F>L		No	gnomAD
rs1386560941	10	F>Y		No	TOPMed gnomAD
rs1810200476	11	L>P		No	TOPMed
rs761291744	13	G>C		No	ExAC gnomAD
RCV002009976 rs940371952	13	G>D		No	ClinVar TOPMed dbSNP gnomAD
rs761291744	13	G>R		No	ExAC gnomAD
rs940371952	13	G>V		No	TOPMed gnomAD
rs890122801	15	E>D		No	gnomAD
rs563056645	16	G>V		No	1000Genomes ExAC gnomAD
rs1198490956	18	G>R		No	gnomAD
rs774802384	19	Q>R		No	ExAC TOPMed gnomAD
rs1263989325	20	Q>*		No	gnomAD
rs1263989325	20	Q>E		No	gnomAD
rs368189425	20	Q>L		No	ESP ExAC TOPMed gnomAD
rs1810199636	21	V>M		No	TOPMed gnomAD
rs1810199516	22	G>D		No	Ensembl
rs2150437425	23	S>*		No	Ensembl
rs1695692722	24	H>N		No	gnomAD
rs1201636021	24	H>Q		No	TOPMed
rs1321230475	26	L>P		No	gnomAD
rs1327787964	27	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs997382058	28	P>L		No	TOPMed gnomAD
rs1040301036	28	P>T		No	TOPMed gnomAD
rs1471698032	29	P>A		No	TOPMed gnomAD
rs936160285	29	P>L		No	TOPMed gnomAD
rs936160285	29	P>R		No	TOPMed gnomAD
rs1471698032	29	P>S		No	TOPMed gnomAD
rs1471698032	29	P>T		No	TOPMed gnomAD
rs1388551553	30	A>T		No	TOPMed gnomAD
rs748157916	30	A>V		No	ExAC TOPMed gnomAD
rs781139228	31	G>A		No	ExAC TOPMed gnomAD
rs1810198621	31	G>R		No	TOPMed gnomAD
rs781139228	31	G>V		No	ExAC TOPMed gnomAD
rs754861005	32	E>*		No	ExAC TOPMed gnomAD
rs754861005	32	E>K		No	ExAC TOPMed gnomAD
rs754861005	32	E>Q		No	ExAC TOPMed gnomAD
rs560178950	33	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs1333634965	33	R>L		No	TOPMed gnomAD
rs1333634965	33	R>P		No	TOPMed gnomAD
rs560178950	33	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1374947340	34	P>A		No	TOPMed gnomAD
rs1374947340	34	P>S		No	TOPMed gnomAD
RCV000722376 rs1563235398	34	P>T		No	ClinVar Ensembl dbSNP
rs1253072793	35	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1253072793	35	P>Q		No	TOPMed gnomAD
rs1253072793	35	P>R		No	TOPMed gnomAD
rs1322607102	35	P>S		No	TOPMed gnomAD
rs1810197668	36	L>P		No	TOPMed gnomAD
rs1205538550	37	L>P		No	TOPMed gnomAD
rs1205538550	37	L>Q		No	TOPMed gnomAD
rs1205538550	37	L>R		No	TOPMed gnomAD
rs1196466631	38	G>D		No	Ensembl
rs1459900849	38	G>R		No	gnomAD
rs2150437389	39	E>G		No	Ensembl
rs1007752081	39	E>Q		No	TOPMed gnomAD
rs1341053895	40	R>H		No	TOPMed gnomAD
rs1341053895	40	R>L		No	TOPMed gnomAD
rs892902237	41	R>G		No	TOPMed gnomAD
rs758127072	41	R>S		No	ExAC gnomAD
rs892902237	41	R>W		No	TOPMed gnomAD
rs1201801919	42	S>G		No	TOPMed
rs1382953827	42	S>I		No	TOPMed gnomAD
rs917244560	42	S>R		No	TOPMed gnomAD
rs1382953827	42	S>T		No	TOPMed gnomAD
rs1455087624	43	A>E		No	TOPMed gnomAD
rs1455087624	43	A>G		No	TOPMed gnomAD
rs1054572439	43	A>T		No	TOPMed gnomAD
rs1304104955	44	A>T		No	gnomAD
rs750018995	45	E>A		No	1000Genomes ExAC TOPMed gnomAD
rs750018995	45	E>G		No	1000Genomes ExAC TOPMed gnomAD
rs1389722667	45	E>K		No	TOPMed gnomAD
rs1034419442	46	R>L		No	1000Genomes TOPMed gnomAD
rs1034419442	46	R>P		No	1000Genomes TOPMed gnomAD
rs1034419442	46	R>Q		No	1000Genomes TOPMed gnomAD
rs764839951	46	R>W		No	ExAC TOPMed gnomAD
rs1429324991	47	S>G		No	gnomAD
rs1385984646	47	S>I		No	TOPMed gnomAD
rs1385984646	47	S>N		No	TOPMed gnomAD
rs112761348	47	S>R		No	TOPMed gnomAD
rs1236770327	48	A>G		No	TOPMed gnomAD
rs1442725564	48	A>P		No	TOPMed gnomAD
rs1442725564	48	A>S		No	TOPMed gnomAD
rs1442725564	48	A>T		No	TOPMed gnomAD
rs1236770327	48	A>V		No	TOPMed gnomAD
rs1014889171	49	R>C		No	1000Genomes TOPMed gnomAD
rs1014889171	49	R>G		No	1000Genomes TOPMed gnomAD
rs768155803	49	R>H		No	ExAC gnomAD
rs768155803	49	R>L		No	ExAC gnomAD
rs1014889171	49	R>S		No	1000Genomes TOPMed gnomAD
rs774926782	50	G>A		No	ExAC TOPMed gnomAD
rs760057737	50	G>C		No	ExAC TOPMed gnomAD
rs774926782	50	G>D		No	ExAC TOPMed gnomAD
rs760057737	50	G>S		No	ExAC TOPMed gnomAD
rs763286912	51	G>E		No	ExAC TOPMed gnomAD
rs1354870466	51	G>R		No	TOPMed gnomAD
rs763286912	51	G>V		No	ExAC TOPMed gnomAD
rs1354870466	51	G>W		No	TOPMed gnomAD
rs1337956675	52	P>A		No	TOPMed gnomAD
rs770019188	52	P>Q		No	ExAC TOPMed gnomAD
rs770019188	52	P>R		No	ExAC TOPMed gnomAD
rs1337956675	52	P>S		No	TOPMed gnomAD
rs557790865	53	G>A		No	1000Genomes TOPMed gnomAD
rs557790865	53	G>E		No	1000Genomes TOPMed gnomAD
rs1810195185	54	A>D		No	Ensembl
rs544089387	54	A>S		No	1000Genomes TOPMed gnomAD
rs544089387	54	A>T		No	1000Genomes TOPMed gnomAD
rs1053462209	55	A>E		No	1000Genomes TOPMed
rs991685834	55	A>S		No	TOPMed gnomAD
rs991685834	55	A>T		No	TOPMed gnomAD
rs748250152	56	Q>H		No	ExAC TOPMed gnomAD
rs1810194976	56	Q>K		No	TOPMed
rs1471106247	56	Q>L		No	TOPMed gnomAD
rs1471106247	56	Q>P		No	TOPMed gnomAD
rs1490416114	57	L>P		No	gnomAD
rs1181132258	57	L>V		No	TOPMed gnomAD
rs776625873	58	A>E		No	ExAC gnomAD
rs1554495374	58	A>S		No	gnomAD
rs776625873	58	A>V		No	ExAC gnomAD
rs1321356073	59	H>P		No	TOPMed gnomAD
rs1810194256	59	H>Q		No	Ensembl
rs1255003610	61	H>N		No	gnomAD
rs746934075	61	H>Q		No	ExAC TOPMed gnomAD
rs779946155	62	G>C		No	ExAC TOPMed gnomAD
rs1353422098	62	G>D		No	TOPMed gnomAD
rs779946155	62	G>R		No	ExAC TOPMed gnomAD
rs779946155	62	G>S		No	ExAC TOPMed gnomAD
rs1286870556	63	I>F		No	gnomAD
rs1286870556	63	I>V		No	gnomAD
rs926128321	66	R>C		No	TOPMed gnomAD
rs745633361	67	R>G		No	ExAC TOPMed gnomAD
rs778448883	67	R>P		No	ExAC TOPMed gnomAD
rs778448883	67	R>Q		No	ExAC TOPMed gnomAD
rs745633361	67	R>W		No	ExAC TOPMed gnomAD
rs1384031505	70	Y>N		No	TOPMed gnomAD
rs917482390	70	Y>S		No	Ensembl
rs993260184	71	C>G		No	Ensembl
rs1810193077	71	C>Y		No	gnomAD
rs1421713806	72	R>G		No	TOPMed gnomAD
rs753406405	72	R>H		No	ExAC TOPMed gnomAD
rs753406405	72	R>L		No	ExAC TOPMed gnomAD
rs1402401757	73	T>A		No	gnomAD
rs1810192793	74	G>A		No	TOPMed
rs1810192793	74	G>D		No	TOPMed
rs1810192544	75	F>L		No	TOPMed
rs1480681473	75	F>S		No	gnomAD
rs1810192394	77	L>P		No	TOPMed
rs1189147785	77	L>V		No	gnomAD
rs112951749	78	Q>E		No	TOPMed gnomAD
rs535724491	78	Q>H		No	1000Genomes ExAC TOPMed gnomAD
rs112951749	78	Q>K		No	TOPMed gnomAD
rs1242227215	78	Q>R		No	gnomAD
rs1266708845	79	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
RCV000908702 rs377326763	79	I>V		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1810191840	80	L>Q		No	Ensembl
rs1324785887	81	P>H		No	gnomAD
rs1324785887	81	P>R		No	gnomAD
rs1208644279	81	P>S		No	TOPMed gnomAD
rs1208644279	81	P>T		No	TOPMed gnomAD
rs1810191448	82	D>E		No	TOPMed
rs1451460296	82	D>N		No	gnomAD
rs553747126	83	G>D		No	1000Genomes ExAC gnomAD
rs951419835	83	G>R		No	TOPMed gnomAD
rs533886836	84	S>N		No	1000Genomes ExAC TOPMed gnomAD
rs1473311716	84	S>R		No	gnomAD
rs533886836	84	S>T		No	1000Genomes ExAC TOPMed gnomAD
rs1415184585	85	V>L		No	gnomAD
rs776748782	86	Q>H		No	ExAC gnomAD
rs1270861983	86	Q>R		No	gnomAD
TCGA novel	87	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs571418438	88	T>A		No	1000Genomes ExAC gnomAD
rs760643638	88	T>I		No	ExAC gnomAD
rs1228175652	89	R>Q		No	TOPMed gnomAD
rs1408079162	89	R>W		No	gnomAD
rs1173650694	90	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1203769902	90	Q>H		No	gnomAD
rs1419715913	91	D>E		No	gnomAD
rs1432260518	91	D>N		No	gnomAD
rs771993864	92	H>P		No	ExAC TOPMed gnomAD
rs1810190165	92	H>Q		No	TOPMed
rs771993864	92	H>R		No	ExAC TOPMed gnomAD
rs1187766235	92	H>Y		No	TOPMed gnomAD
rs745659538	93	S>G		No	ExAC TOPMed gnomAD
rs1208700823	93	S>N		No	gnomAD
rs770778026	94	L>I		No	ExAC gnomAD
rs1554495355	94	L>R		No	Ensembl
rs777477639	95	F>L		No	ExAC gnomAD
rs1274066944	96	G>C		No	TOPMed gnomAD
rs1274066944	96	G>R		No	TOPMed gnomAD
TCGA novel	97	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs370758961	98	L>W		No	ESP ExAC gnomAD
rs774317326	99	E>G		No	ExAC gnomAD
TCGA novel	100	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1021365248	101	I>V		No	TOPMed
rs1308905635	103	V>M		No	TOPMed gnomAD
rs1810027774	104	A>G		No	TOPMed
rs766380961	104	A>S		No	ExAC gnomAD
rs1449412678	105	V>M		No	TOPMed
rs1810027644	106	G>R		No	Ensembl
COSM4919443	107	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766382683	107	L>P		No	ExAC gnomAD
rs766382683	107	L>Q		No	ExAC gnomAD
rs1162134925	108	V>I		No	TOPMed gnomAD
rs1162134925	108	V>L		No	TOPMed gnomAD
rs1376376754	109	S>T		No	TOPMed
rs367661392	110	I>V		No	ESP ExAC TOPMed gnomAD
rs769576140	111	R>S		No	ExAC gnomAD
rs1810027190	112	G>D		No	gnomAD
rs1292395727	112	G>S		No	gnomAD
rs747822150	113	V>M		No	ExAC TOPMed gnomAD
rs1161832443	114	D>G		No	gnomAD
rs768178900	116	G>D		No	ExAC gnomAD
RCV000912224 VAR_020946 rs3793405	116	G>R		No	ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1810026731	117	L>V		No	Ensembl
rs746460841	118	Y>D		No	ExAC gnomAD
rs532205949	120	G>A		No	1000Genomes ExAC gnomAD
rs1486159825	120	G>R		No	TOPMed gnomAD
rs1328283813	121	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1283655289	122	N>S		No	gnomAD
COSM232338	125	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3646844	125	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1040608226	125	G>V		No	TOPMed gnomAD
rs563540999	127	L>F		No	1000Genomes ExAC gnomAD
rs1810025981	127	L>R		No	Ensembl
rs1323206170	130	S>L		No	gnomAD
rs765043985	131	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM3898467	133	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3898466	133	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs761688715	133	L>V		No	ExAC TOPMed gnomAD
rs1323039427	134	T>S		No	Ensembl
rs200152641	135	S>C		No	1000Genomes ExAC TOPMed gnomAD
rs200152641	135	S>F		No	1000Genomes ExAC TOPMed gnomAD
rs201317229 COSM174439	136	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1450792723	137	C>R		No	gnomAD
COSM6112877	138	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1339121613	138	I>M		No	gnomAD
rs1809959923	138	I>V		No	Ensembl
rs775035654	139	F>L		No	ExAC gnomAD
rs763495311	140	R>G		No	ExAC TOPMed gnomAD
rs773742854	140	R>K		No	ExAC TOPMed gnomAD
rs1306266506	140	R>S		No	gnomAD
rs773742854	140	R>T		No	ExAC TOPMed gnomAD
COSM3646843	141	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1429266748	141	E>Q		No	TOPMed gnomAD
COSM3367264 rs1385931006	142	Q>E	kidney [Cosmic]	No	cosmic curated gnomAD
rs1336185318	142	Q>H		No	TOPMed
rs1164980372	142	Q>R		No	gnomAD
rs1563231817	144	E>D		No	Ensembl
COSM181903	145	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1209744626	148	Y>C		No	TOPMed
COSM3898465	148	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1809958580	149	N>I		No	gnomAD
rs770153930	149	N>K		No	ExAC gnomAD
rs748560461	150	T>S		No	ExAC TOPMed gnomAD
rs1249076606	153	S>C		No	gnomAD
rs768990128	155	I>R		No	ExAC TOPMed gnomAD
rs780320172	156	Y>H		No	ExAC TOPMed gnomAD
rs750479279	157	K>E		No	ExAC TOPMed gnomAD
rs1283992489	157	K>N		No	gnomAD
rs1585100241	158	H>L		No	Ensembl
rs1229326644	161	T>A		No	gnomAD
rs757072657	161	T>I		No	ExAC gnomAD
rs757072657	161	T>N		No	ExAC gnomAD
rs143400495	162	G>S		No	ESP ExAC gnomAD
COSM486240 rs1325559004	163	R>C	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1325559004	163	R>G		No	TOPMed gnomAD
rs760365627	163	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs760365627	163	R>L		No	ExAC TOPMed gnomAD
rs752318885	164	R>K		No	ExAC gnomAD
rs767120553	164	R>S		No	ExAC TOPMed gnomAD
rs1161426917	166	F>L		No	TOPMed
rs759071753	166	F>S		No	ExAC gnomAD
TCGA novel	168	A>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1563231775	168	A>V		No	TOPMed
rs1809957044	169	L>F		No	TOPMed
rs773678490	170	N>S		No	ExAC gnomAD
rs1809956855	171	K>N		No	TOPMed
rs770340289	171	K>R		No	ExAC gnomAD
rs762222483	172	D>G		No	ExAC TOPMed gnomAD
rs762222483	172	D>V		No	ExAC TOPMed gnomAD
rs1252960774	173	G>R		No	gnomAD
rs1051138244	174	T>A		No	Ensembl
VAR_020947 rs10089600	175	P>A		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772360437	175	P>L		No	ExAC TOPMed gnomAD
rs772360437	175	P>Q		No	ExAC TOPMed gnomAD
rs10089600	175	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1699756 rs1809956313	176	R>K	skin [Cosmic]	No	cosmic curated TOPMed
COSM3374838	177	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1360206014	177	D>H		No	TOPMed gnomAD
rs2150433589	178	G>C		No	Ensembl
TCGA novel	178	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs376046538	179	A>S		No	ExAC TOPMed gnomAD
rs376046538	179	A>T		No	ExAC TOPMed gnomAD
rs749155129	180	R>S		No	ExAC TOPMed gnomAD
rs921238581	181	S>T		No	Ensembl
rs1809955799 COSM332163	182	K>N	lung [Cosmic]	No	cosmic curated gnomAD
rs1368510325	182	K>R		No	gnomAD
rs755939016	183	R>G		No	ExAC TOPMed gnomAD
rs753990768	183	R>K		No	ExAC TOPMed gnomAD
rs753990768	183	R>M		No	ExAC TOPMed gnomAD
rs767173525	183	R>S		No	ExAC TOPMed gnomAD
rs1809955393	184	H>R		No	TOPMed
rs556236317	185	Q>H		No	1000Genomes ExAC gnomAD
rs1809955191	188	T>A		No	TOPMed gnomAD
rs1809955148	189	H>D		No	Ensembl
rs1458723028	189	H>Q		No	gnomAD
rs762432192	191	L>F		No	ExAC TOPMed gnomAD
rs777035608	192	P>A		No	ExAC gnomAD
rs1426756966	192	P>R		No	gnomAD
rs764646776	194	P>L		No	ExAC gnomAD
rs764646776 COSM1252411	194	P>Q	oesophagus [Cosmic]	No	cosmic curated ExAC gnomAD
rs376283820	195	V>E		No	ESP ExAC TOPMed gnomAD
rs1212546905	195	V>L		No	TOPMed gnomAD
rs1809953511	197	P>S		No	TOPMed
rs936045906	201	P>S		No	TOPMed gnomAD
rs936045906 TCGA novel	201	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1208432532	203	L>M		No	TOPMed gnomAD
rs1281074178	204	Y>C		No	gnomAD
rs372796901	204	Y>H		No	ESP ExAC TOPMed gnomAD
rs774535729	205	K>E		No	ExAC gnomAD
VAR_020948 RCV000965770 rs17550360	206	D>N		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs17550360	206	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1365472443	208	L>P		No	TOPMed gnomAD
rs747943357	209	M>L		No	ExAC TOPMed gnomAD
rs1319650178	209	M>R		No	gnomAD
rs747943357	209	M>V		No	ExAC TOPMed gnomAD
rs780961429	210	Y>H		No	ExAC gnomAD
rs573963889	211	T>A		No	1000Genomes ExAC TOPMed gnomAD
rs375846209	211	T>N		No	ESP ExAC TOPMed gnomAD
rs573963889	211	T>P		No	1000Genomes ExAC TOPMed gnomAD
rs375846209	211	T>S		No	ESP ExAC TOPMed gnomAD
rs1809952434	212	T>S		No	TOPMed

1 associated diseases with Q9NP95

[MIM: 615721]: Renal hypodysplasia/aplasia 2 (RHDA2)

A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. . Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for Q9NP95

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	217 - 485	IPR000719
domain	SH2 domain	112 - 205	IPR000980
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	218 - 473	IPR001245
active_site	Tyrosine-protein kinase, active site	340 - 352	IPR008266
binding_site	Protein kinase, ATP binding site	223 - 250	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	217 - 475	IPR020635
domain	Fes/Fps/Fer, SH2 domain	109 - 195	IPR035849

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.

5 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.
heparan sulfate proteoglycan binding	Binding to a heparan sulfate proteoglycan, any proteoglycan containing heparan sulfate as the glycosaminoglycan carbohydrate unit.
receptor-receptor interaction	The aggregation, arrangement and bonding together of two or more different receptor complexes that individually undergo combination with a hormone, neurotransmitter, drug or intracellular messenger to form a higher level receptor complex. The formation of the higher level complex initiates a change in cell function.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

15 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 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.
inner ear auditory receptor cell differentiation	The process in which a relatively unspecialized inner cell acquires specialized features of an auditory hair cell.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of dopaminergic neuron differentiation	Any process that activates or increases the frequency, rate or extent of dopaminergic neuron differentiation.
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 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 cardiac muscle cell proliferation	Any process that modulates the frequency, rate or extent of cardiac muscle cell proliferation.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
regulation of dopamine secretion	Any process that modulates the frequency, rate or extent of the regulated release of dopamine.
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
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
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
Q9ESL9	Fgf20	Fibroblast growth factor 20	Mus musculus (Mouse)	SS
Q95L12	FGF9	Fibroblast growth factor 9	Sus scrofa (Pig)	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
Q9EST9	Fgf20	Fibroblast growth factor 20	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
MAPLAEVGGF	LGGLEGLGQQ	VGSHFLLPPA	GERPPLLGER	RSAAERSARG	GPGAAQLAHL
70	80	90	100	110	120
HGILRRRQLY	CRTGFHLQIL	PDGSVQGTRQ	DHSLFGILEF	ISVAVGLVSI	RGVDSGLYLG
130	140	150	160	170	180
MNDKGELYGS	EKLTSECIFR	EQFEENWYNT	YSSNIYKHGD	TGRRYFVALN	KDGTPRDGAR
190	200	210
SKRHQKFTHF	LPRPVDPERV	PELYKDLLMY	T