Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	124590
Gene name Gene Name - the full gene name approved by the HGNC.	USH1 protein network component sans
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	USH1G
Synonyms (NCBI Gene) Gene synonyms aliases	ANKS4A, SANS
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the developm

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SNP ID	Visualize variation	Clinical significance	Consequence
rs142486910	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147967199	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201866631	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs397515345	ACGCTGTCCTCGTCCGAGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397517925	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs538983393	C>T	Pathogenic	Coding sequence variant, missense variant
rs587776546	->C	Pathogenic	Coding sequence variant, frameshift variant
rs730880268	GT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant
rs886043626	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1316299165	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs1555627787	->AG	Likely-pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1567939718	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1567939793	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567940507	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1598584825	->G	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT636146	hsa-miR-1178-3p	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611303	hsa-miR-4696	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT499750	hsa-miR-4779	PAR-CLIP	20371350
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT499748	hsa-miR-5685	PAR-CLIP	20371350
MIRT499739	hsa-miR-1827	PAR-CLIP	20371350
MIRT499738	hsa-miR-184	PAR-CLIP	20371350
MIRT499737	hsa-miR-765	PAR-CLIP	20371350
MIRT499736	hsa-miR-3612	PAR-CLIP	20371350
MIRT499735	hsa-miR-650	PAR-CLIP	20371350
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT499725	hsa-miR-8071	PAR-CLIP	20371350
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	20371350
MIRT499750	hsa-miR-4779	PAR-CLIP	20371350
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT499748	hsa-miR-5685	PAR-CLIP	20371350
MIRT499747	hsa-miR-2276-5p	PAR-CLIP	20371350
MIRT499746	hsa-miR-326	PAR-CLIP	20371350
MIRT499745	hsa-miR-330-5p	PAR-CLIP	20371350
MIRT499744	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT499743	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT499741	hsa-miR-8089	PAR-CLIP	20371350
MIRT499742	hsa-miR-637	PAR-CLIP	20371350
MIRT499740	hsa-miR-7155-5p	PAR-CLIP	20371350
MIRT499739	hsa-miR-1827	PAR-CLIP	20371350
MIRT499738	hsa-miR-184	PAR-CLIP	20371350
MIRT499737	hsa-miR-765	PAR-CLIP	20371350
MIRT499736	hsa-miR-3612	PAR-CLIP	20371350
MIRT499735	hsa-miR-650	PAR-CLIP	20371350
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT499732	hsa-miR-342-5p	PAR-CLIP	20371350
MIRT499731	hsa-miR-4664-5p	PAR-CLIP	20371350
MIRT499730	hsa-miR-4651	PAR-CLIP	20371350
MIRT499729	hsa-miR-608	PAR-CLIP	20371350
MIRT499728	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT499727	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT499726	hsa-miR-6745	PAR-CLIP	20371350
MIRT499725	hsa-miR-8071	PAR-CLIP	20371350
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	20371350
MIRT499723	hsa-miR-6737-5p	PAR-CLIP	20371350
MIRT499722	hsa-miR-6812-5p	PAR-CLIP	20371350
MIRT499721	hsa-miR-6819-5p	PAR-CLIP	20371350
MIRT499750	hsa-miR-4779	PAR-CLIP	24398324
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT499748	hsa-miR-5685	PAR-CLIP	24398324
MIRT499747	hsa-miR-2276-5p	PAR-CLIP	24398324
MIRT499746	hsa-miR-326	PAR-CLIP	24398324
MIRT499745	hsa-miR-330-5p	PAR-CLIP	24398324
MIRT499744	hsa-miR-4667-5p	PAR-CLIP	24398324
MIRT499743	hsa-miR-4700-5p	PAR-CLIP	24398324
MIRT499741	hsa-miR-8089	PAR-CLIP	24398324
MIRT499742	hsa-miR-637	PAR-CLIP	24398324
MIRT499740	hsa-miR-7155-5p	PAR-CLIP	24398324
MIRT499739	hsa-miR-1827	PAR-CLIP	24398324
MIRT499738	hsa-miR-184	PAR-CLIP	24398324
MIRT499737	hsa-miR-765	PAR-CLIP	24398324
MIRT499736	hsa-miR-3612	PAR-CLIP	24398324
MIRT499735	hsa-miR-650	PAR-CLIP	24398324
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT499732	hsa-miR-342-5p	PAR-CLIP	24398324
MIRT499731	hsa-miR-4664-5p	PAR-CLIP	24398324
MIRT499730	hsa-miR-4651	PAR-CLIP	24398324
MIRT499729	hsa-miR-608	PAR-CLIP	24398324
MIRT499728	hsa-miR-6747-5p	PAR-CLIP	24398324
MIRT499727	hsa-miR-363-5p	PAR-CLIP	24398324
MIRT499726	hsa-miR-6745	PAR-CLIP	24398324
MIRT499725	hsa-miR-8071	PAR-CLIP	24398324
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	24398324
MIRT499723	hsa-miR-6737-5p	PAR-CLIP	24398324
MIRT499722	hsa-miR-6812-5p	PAR-CLIP	24398324
MIRT499721	hsa-miR-6819-5p	PAR-CLIP	24398324
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT636146	hsa-miR-1178-3p	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621598	hsa-miR-8485	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT611305	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611304	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611303	hsa-miR-4696	HITS-CLIP	23824327
MIRT611302	hsa-miR-4643	HITS-CLIP	23824327
MIRT611301	hsa-miR-8064	HITS-CLIP	23824327
MIRT499750	hsa-miR-4779	PAR-CLIP	20371350
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT499748	hsa-miR-5685	PAR-CLIP	20371350
MIRT499739	hsa-miR-1827	PAR-CLIP	20371350
MIRT499738	hsa-miR-184	PAR-CLIP	20371350
MIRT499737	hsa-miR-765	PAR-CLIP	20371350
MIRT499736	hsa-miR-3612	PAR-CLIP	20371350
MIRT499735	hsa-miR-650	PAR-CLIP	20371350
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT499725	hsa-miR-8071	PAR-CLIP	20371350
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	20371350
MIRT499750	hsa-miR-4779	PAR-CLIP	20371350
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT499748	hsa-miR-5685	PAR-CLIP	20371350
MIRT499747	hsa-miR-2276-5p	PAR-CLIP	20371350
MIRT499746	hsa-miR-326	PAR-CLIP	20371350
MIRT499745	hsa-miR-330-5p	PAR-CLIP	20371350
MIRT499744	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT499743	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT499741	hsa-miR-8089	PAR-CLIP	20371350
MIRT499742	hsa-miR-637	PAR-CLIP	20371350
MIRT499740	hsa-miR-7155-5p	PAR-CLIP	20371350
MIRT499739	hsa-miR-1827	PAR-CLIP	20371350
MIRT499738	hsa-miR-184	PAR-CLIP	20371350
MIRT499737	hsa-miR-765	PAR-CLIP	20371350
MIRT499736	hsa-miR-3612	PAR-CLIP	20371350
MIRT499735	hsa-miR-650	PAR-CLIP	20371350
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT499732	hsa-miR-342-5p	PAR-CLIP	20371350
MIRT499731	hsa-miR-4664-5p	PAR-CLIP	20371350
MIRT499730	hsa-miR-4651	PAR-CLIP	20371350
MIRT499729	hsa-miR-608	PAR-CLIP	20371350
MIRT499728	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT499727	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT499726	hsa-miR-6745	PAR-CLIP	20371350
MIRT499725	hsa-miR-8071	PAR-CLIP	20371350
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	20371350
MIRT499723	hsa-miR-6737-5p	PAR-CLIP	20371350
MIRT499722	hsa-miR-6812-5p	PAR-CLIP	20371350
MIRT499721	hsa-miR-6819-5p	PAR-CLIP	20371350
MIRT499750	hsa-miR-4779	PAR-CLIP	24398324
MIRT499749	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT499748	hsa-miR-5685	PAR-CLIP	24398324
MIRT499747	hsa-miR-2276-5p	PAR-CLIP	24398324
MIRT499746	hsa-miR-326	PAR-CLIP	24398324
MIRT499745	hsa-miR-330-5p	PAR-CLIP	24398324
MIRT499744	hsa-miR-4667-5p	PAR-CLIP	24398324
MIRT499743	hsa-miR-4700-5p	PAR-CLIP	24398324
MIRT499741	hsa-miR-8089	PAR-CLIP	24398324
MIRT499742	hsa-miR-637	PAR-CLIP	24398324
MIRT499740	hsa-miR-7155-5p	PAR-CLIP	24398324
MIRT499739	hsa-miR-1827	PAR-CLIP	24398324
MIRT499738	hsa-miR-184	PAR-CLIP	24398324
MIRT499737	hsa-miR-765	PAR-CLIP	24398324
MIRT499736	hsa-miR-3612	PAR-CLIP	24398324
MIRT499735	hsa-miR-650	PAR-CLIP	24398324
MIRT499734	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT499733	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT499732	hsa-miR-342-5p	PAR-CLIP	24398324
MIRT499731	hsa-miR-4664-5p	PAR-CLIP	24398324
MIRT499730	hsa-miR-4651	PAR-CLIP	24398324
MIRT499729	hsa-miR-608	PAR-CLIP	24398324
MIRT499728	hsa-miR-6747-5p	PAR-CLIP	24398324
MIRT499727	hsa-miR-363-5p	PAR-CLIP	24398324
MIRT499726	hsa-miR-6745	PAR-CLIP	24398324
MIRT499725	hsa-miR-8071	PAR-CLIP	24398324
MIRT499724	hsa-miR-4804-5p	PAR-CLIP	24398324
MIRT499723	hsa-miR-6737-5p	PAR-CLIP	24398324
MIRT499722	hsa-miR-6812-5p	PAR-CLIP	24398324
MIRT499721	hsa-miR-6819-5p	PAR-CLIP	24398324
MIRT1477187	hsa-miR-10a	CLIP-seq
MIRT1477188	hsa-miR-10b	CLIP-seq
MIRT1477189	hsa-miR-1197	CLIP-seq
MIRT1477190	hsa-miR-1236	CLIP-seq
MIRT1477191	hsa-miR-1286	CLIP-seq
MIRT1477192	hsa-miR-204	CLIP-seq
MIRT1477193	hsa-miR-211	CLIP-seq
MIRT1477194	hsa-miR-2115	CLIP-seq
MIRT1477195	hsa-miR-214	CLIP-seq
MIRT1477196	hsa-miR-28-5p	CLIP-seq
MIRT1477197	hsa-miR-3065-3p	CLIP-seq
MIRT1477198	hsa-miR-3139	CLIP-seq
MIRT1477199	hsa-miR-3176	CLIP-seq
MIRT1477200	hsa-miR-3179	CLIP-seq
MIRT1477201	hsa-miR-3192	CLIP-seq
MIRT1477202	hsa-miR-3619-3p	CLIP-seq
MIRT1477203	hsa-miR-3619-5p	CLIP-seq
MIRT1477204	hsa-miR-3620	CLIP-seq
MIRT1477205	hsa-miR-3663-3p	CLIP-seq
MIRT1477206	hsa-miR-3922-3p	CLIP-seq
MIRT1477207	hsa-miR-4283	CLIP-seq
MIRT1477208	hsa-miR-4314	CLIP-seq
MIRT1477209	hsa-miR-4488	CLIP-seq
MIRT1477210	hsa-miR-4489	CLIP-seq
MIRT1477211	hsa-miR-4530	CLIP-seq
MIRT1477212	hsa-miR-4646-5p	CLIP-seq
MIRT1477213	hsa-miR-4649-3p	CLIP-seq
MIRT1477214	hsa-miR-4656	CLIP-seq
MIRT1477215	hsa-miR-4688	CLIP-seq
MIRT1477216	hsa-miR-4691-3p	CLIP-seq
MIRT1477217	hsa-miR-4697-5p	CLIP-seq
MIRT1477218	hsa-miR-4722-5p	CLIP-seq
MIRT1477219	hsa-miR-4727-5p	CLIP-seq
MIRT1477220	hsa-miR-4731-5p	CLIP-seq
MIRT1477221	hsa-miR-4755-5p	CLIP-seq
MIRT1477222	hsa-miR-486-3p	CLIP-seq
MIRT1477223	hsa-miR-513b	CLIP-seq
MIRT1477224	hsa-miR-516a-3p	CLIP-seq
MIRT1477225	hsa-miR-558	CLIP-seq
MIRT1477226	hsa-miR-593	CLIP-seq
MIRT1477227	hsa-miR-623	CLIP-seq
MIRT1477228	hsa-miR-708	CLIP-seq
MIRT1477229	hsa-miR-760	CLIP-seq
MIRT1477230	hsa-miR-761	CLIP-seq
MIRT2143712	hsa-miR-1255a	CLIP-seq
MIRT2143713	hsa-miR-1255b	CLIP-seq
MIRT2143714	hsa-miR-1972	CLIP-seq
MIRT1477197	hsa-miR-3065-3p	CLIP-seq
MIRT2143715	hsa-miR-3155	CLIP-seq
MIRT2143716	hsa-miR-3155b	CLIP-seq
MIRT1477200	hsa-miR-3179	CLIP-seq
MIRT1477201	hsa-miR-3192	CLIP-seq
MIRT2143717	hsa-miR-331-3p	CLIP-seq
MIRT2143718	hsa-miR-361-3p	CLIP-seq
MIRT1477207	hsa-miR-4283	CLIP-seq
MIRT2143719	hsa-miR-4308	CLIP-seq
MIRT1477208	hsa-miR-4314	CLIP-seq
MIRT1477210	hsa-miR-4489	CLIP-seq
MIRT1477212	hsa-miR-4646-5p	CLIP-seq
MIRT1477215	hsa-miR-4688	CLIP-seq
MIRT2143720	hsa-miR-4755-3p	CLIP-seq
MIRT2143721	hsa-miR-484	CLIP-seq
MIRT1477222	hsa-miR-486-3p	CLIP-seq
MIRT1477229	hsa-miR-760	CLIP-seq
MIRT1477197	hsa-miR-3065-3p	CLIP-seq
MIRT1477200	hsa-miR-3179	CLIP-seq
MIRT1477201	hsa-miR-3192	CLIP-seq
MIRT2364028	hsa-miR-4257	CLIP-seq
MIRT1477207	hsa-miR-4283	CLIP-seq
MIRT1477208	hsa-miR-4314	CLIP-seq
MIRT1477210	hsa-miR-4489	CLIP-seq
MIRT1477212	hsa-miR-4646-5p	CLIP-seq
MIRT2364029	hsa-miR-466	CLIP-seq
MIRT1477215	hsa-miR-4688	CLIP-seq
MIRT2364030	hsa-miR-4789-3p	CLIP-seq
MIRT1477222	hsa-miR-486-3p	CLIP-seq
MIRT2364031	hsa-miR-596	CLIP-seq
MIRT2364032	hsa-miR-648	CLIP-seq
MIRT1477229	hsa-miR-760	CLIP-seq
MIRT2657751	hsa-miR-1292	CLIP-seq
MIRT2657752	hsa-miR-1324	CLIP-seq
MIRT2143718	hsa-miR-361-3p	CLIP-seq
MIRT2657753	hsa-miR-4471	CLIP-seq
MIRT2657751	hsa-miR-1292	CLIP-seq
MIRT2657752	hsa-miR-1324	CLIP-seq
MIRT2143718	hsa-miR-361-3p	CLIP-seq
MIRT2657753	hsa-miR-4471	CLIP-seq

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IDA	24608321
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	19028668, 20142502, 24608321, 25502805, 27173435, 28514442, 29997244, 31515488, 31637240, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	11398101, 12588794
GO:0015030	Component	Cajal body	IDA	34023904
GO:0015030	Component	Cajal body	IEA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	ISS	12588794
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA	34023904
GO:0016607	Component	Nuclear speck	IEA
GO:0030507	Function	Spectrin binding	IDA	23704327
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	20142502
GO:0042995	Component	Cell projection	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	11398101
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	11398101
GO:0050957	Process	Equilibrioception	IEA
GO:0050957	Process	Equilibrioception	IMP	12588794
GO:0060113	Process	Inner ear receptor cell differentiation	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0097546	Component	Ciliary base	IDA	24608321
GO:0097733	Component	Photoreceptor cell cilium	IDA	31637240
GO:0120025	Component	Plasma membrane bounded cell projection	IEA
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	IMP	24608321

MIM	HGNC	e!Ensembl
607696	16356	ENSG00000182040

Protein

UniProt ID

Q495M9

Protein name

pre-mRNA splicing regulator USH1G (Scaffold protein containing ankyrin repeats and SAM domain) (Usher syndrome type-1G protein)

Protein function

Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of

PDB

2L7T , 3K1R , 3PVL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	37 → 126	Ankyrin repeats (3 copies)	Repeat
PF00536	SAM_1	388 → 447	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in vestibule of the inner ear, eye and small intestine. {ECO:0000269|PubMed:12588794}.

Sequence

MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDK
CDIWGNTPLHLAASNGHLHCLSFLVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSI
AAKQSSLNPKLVGKLKDKAFREAERRIRECAKLQRRHHERMERRYRRELAERSDTLSFSS
LTSSTLSRRLQHLALGSHLPYSQATLHGTARGKTKMQKKLERRKQGGEGTFKVSEDGRKS
ARSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMFLSDEDSVSRATLAAEPAHSEVSTD
SGHDSLFTRPGLGTMVFRRNYLSSGLHGLGREDGGLDGVGAPRGRLQSSPSLDDDSLGSA
NSLQDRSCGEELPWDELDLGLDEDLEPETSPLETFLASLHMEDFAALLRQEKIDLEALML
CSDLDLRSISVPLGPRKKILGAVRRRRQAMERPPALEDTEL

Sequence length

461

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
hearing impairment	Hearing impairment	rs1567939718, rs1567940507	N/A
Usher Syndrome	Usher syndrome type 1G, usher syndrome type 1	rs587776546, rs104894652, rs1316299165, rs397517925, rs1598584825, rs886043626, rs1359109336, rs1555627787, rs104894651, rs730880268, rs397515345, rs201866631	N/A
deafness	Deafness	rs1567939793, rs201866631	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs1567939793, rs201866631	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar
Retinitis Pigmentosa	Retinitis pigmentosa-deafness syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ciliopathies	Associate	34023904
Deaf Blind Disorders	Associate	34023904, 38139438
Deafness	Associate	33095980
Hearing Loss	Associate	12519370, 30872814, 33095980
Inflammation	Associate	30872814
Usher syndrome type 1B	Associate	16679490, 21203349, 22219650
Usher Syndromes	Associate	22219650, 22876113, 25404053, 25575603, 25798947, 27583663, 34023904, 38139438

USH1G (USH1 protein network component sans)