Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	126326
Gene name	GIPC PDZ domain containing family member 3
Gene symbol	GIPC3
Synonyms (NCBI Gene)	C19orf64DFNB15DFNB72DFNB95
Chromosome	19
Chromosome location	19p13.3
Summary	The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are ass

14 Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138339125	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs387906999	T>G	Pathogenic	Coding sequence variant, missense variant
rs387907000	G>A	Pathogenic	Stop gained, coding sequence variant, missense variant
rs387907001	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907002	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs727503062	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727504771	GGGTCAGATAGGCCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs748150647	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs764467903	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs876657692	G>A	Pathogenic	Splice donor variant
rs946085339	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1348505504	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1466835034	T>C	Likely-pathogenic	Coding sequence variant, missense variant, stop lost, terminator codon variant
rs1568278651	G>T	Pathogenic	Coding sequence variant, stop gained

115 Show/Hide all (115)

miRTarBase ID	miRNA	Experiments	Reference
MIRT755465	hsa-miR-762	qRT-PCR	36301034
MIRT1019434	hsa-miR-1914	CLIP-seq
MIRT1019435	hsa-miR-197	CLIP-seq
MIRT1019436	hsa-miR-3160-3p	CLIP-seq
MIRT1019437	hsa-miR-4487	CLIP-seq
MIRT1019438	hsa-miR-4786-3p	CLIP-seq
MIRT1019439	hsa-miR-5096	CLIP-seq
MIRT1019440	hsa-miR-558	CLIP-seq
MIRT1549212	hsa-miR-1207-3p	CLIP-seq
MIRT2001882	hsa-miR-193a-5p	CLIP-seq
MIRT2001883	hsa-miR-198	CLIP-seq
MIRT1019436	hsa-miR-3160-3p	CLIP-seq
MIRT2001884	hsa-miR-3180-5p	CLIP-seq
MIRT2001885	hsa-miR-378g	CLIP-seq
MIRT1019437	hsa-miR-4487	CLIP-seq
MIRT2001886	hsa-miR-4492	CLIP-seq
MIRT2001887	hsa-miR-4498	CLIP-seq
MIRT2001888	hsa-miR-4505	CLIP-seq
MIRT2001889	hsa-miR-4633-3p	CLIP-seq
MIRT2001890	hsa-miR-4674	CLIP-seq
MIRT2001891	hsa-miR-4682	CLIP-seq
MIRT2001892	hsa-miR-4731-5p	CLIP-seq
MIRT2001893	hsa-miR-516b	CLIP-seq
MIRT2001894	hsa-miR-520a-5p	CLIP-seq
MIRT2001895	hsa-miR-525-5p	CLIP-seq
MIRT1019440	hsa-miR-558	CLIP-seq
MIRT755465	hsa-miR-762	CLIP-seq
MIRT2234921	hsa-miR-1205	CLIP-seq
MIRT2234922	hsa-miR-1207-5p	CLIP-seq
MIRT2234923	hsa-miR-1269	CLIP-seq
MIRT2234924	hsa-miR-1269b	CLIP-seq
MIRT2234925	hsa-miR-1286	CLIP-seq
MIRT2234926	hsa-miR-1287	CLIP-seq
MIRT2234927	hsa-miR-1288	CLIP-seq
MIRT2234928	hsa-miR-1299	CLIP-seq
MIRT2234929	hsa-miR-1587	CLIP-seq
MIRT2234930	hsa-miR-1909	CLIP-seq
MIRT1019434	hsa-miR-1914	CLIP-seq
MIRT2001882	hsa-miR-193a-5p	CLIP-seq
MIRT2234931	hsa-miR-2115	CLIP-seq
MIRT2234932	hsa-miR-2392	CLIP-seq
MIRT2234933	hsa-miR-24	CLIP-seq
MIRT2234934	hsa-miR-3135b	CLIP-seq
MIRT2001884	hsa-miR-3180-5p	CLIP-seq
MIRT2234935	hsa-miR-3194-3p	CLIP-seq
MIRT2234936	hsa-miR-378	CLIP-seq
MIRT2234937	hsa-miR-378b	CLIP-seq
MIRT2234938	hsa-miR-378c	CLIP-seq
MIRT2234939	hsa-miR-378d	CLIP-seq
MIRT2234940	hsa-miR-378e	CLIP-seq
MIRT2234941	hsa-miR-378f	CLIP-seq
MIRT2001885	hsa-miR-378g	CLIP-seq
MIRT2234942	hsa-miR-378h	CLIP-seq
MIRT2234943	hsa-miR-378i	CLIP-seq
MIRT2234944	hsa-miR-3918	CLIP-seq
MIRT2234945	hsa-miR-3977	CLIP-seq
MIRT2234946	hsa-miR-422a	CLIP-seq
MIRT2234947	hsa-miR-431	CLIP-seq
MIRT2234948	hsa-miR-4320	CLIP-seq
MIRT2234949	hsa-miR-4426	CLIP-seq
MIRT2234950	hsa-miR-4437	CLIP-seq
MIRT1019437	hsa-miR-4487	CLIP-seq
MIRT2001886	hsa-miR-4492	CLIP-seq
MIRT2001887	hsa-miR-4498	CLIP-seq
MIRT2234951	hsa-miR-4515	CLIP-seq
MIRT2001889	hsa-miR-4633-3p	CLIP-seq
MIRT2234952	hsa-miR-4647	CLIP-seq
MIRT2234953	hsa-miR-4656	CLIP-seq
MIRT2234954	hsa-miR-4662b	CLIP-seq
MIRT2001890	hsa-miR-4674	CLIP-seq
MIRT2234955	hsa-miR-4675	CLIP-seq
MIRT2001891	hsa-miR-4682	CLIP-seq
MIRT2234956	hsa-miR-4722-5p	CLIP-seq
MIRT2234957	hsa-miR-4740-5p	CLIP-seq
MIRT2234958	hsa-miR-4741	CLIP-seq
MIRT2234959	hsa-miR-4763-3p	CLIP-seq
MIRT2234960	hsa-miR-4782-5p	CLIP-seq
MIRT2234961	hsa-miR-486-3p	CLIP-seq
MIRT2234962	hsa-miR-516a-3p	CLIP-seq
MIRT2001893	hsa-miR-516b	CLIP-seq
MIRT2001894	hsa-miR-520a-5p	CLIP-seq
MIRT2001895	hsa-miR-525-5p	CLIP-seq
MIRT2234963	hsa-miR-526b	CLIP-seq
MIRT755465	hsa-miR-762	CLIP-seq
MIRT2388458	hsa-miR-3187-3p	CLIP-seq
MIRT2388459	hsa-miR-3670	CLIP-seq
MIRT2388460	hsa-miR-4435	CLIP-seq
MIRT2388461	hsa-miR-4453	CLIP-seq
MIRT1019437	hsa-miR-4487	CLIP-seq
MIRT2388462	hsa-miR-4538	CLIP-seq
MIRT2001889	hsa-miR-4633-3p	CLIP-seq
MIRT2234953	hsa-miR-4656	CLIP-seq
MIRT2388463	hsa-miR-4667-5p	CLIP-seq
MIRT2234955	hsa-miR-4675	CLIP-seq
MIRT2388464	hsa-miR-4700-5p	CLIP-seq
MIRT2388465	hsa-miR-4701-5p	CLIP-seq
MIRT2234958	hsa-miR-4741	CLIP-seq
MIRT2388466	hsa-miR-4755-3p	CLIP-seq
MIRT2001893	hsa-miR-516b	CLIP-seq
MIRT2388467	hsa-miR-548s	CLIP-seq
MIRT2388468	hsa-miR-588	CLIP-seq
MIRT2388469	hsa-miR-637	CLIP-seq
MIRT1019434	hsa-miR-1914	CLIP-seq
MIRT1019436	hsa-miR-3160-3p	CLIP-seq
MIRT1019437	hsa-miR-4487	CLIP-seq
MIRT1019440	hsa-miR-558	CLIP-seq
MIRT2234926	hsa-miR-1287	CLIP-seq
MIRT2234934	hsa-miR-3135b	CLIP-seq
MIRT1019437	hsa-miR-4487	CLIP-seq
MIRT2001889	hsa-miR-4633-3p	CLIP-seq
MIRT1019434	hsa-miR-1914	CLIP-seq
MIRT1019434	hsa-miR-1914	CLIP-seq
MIRT1019436	hsa-miR-3160-3p	CLIP-seq
MIRT1019437	hsa-miR-4487	CLIP-seq
MIRT1019440	hsa-miR-558	CLIP-seq

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183

MIM	HGNC	e!Ensembl
608792	18183	ENSG00000179855

Q8TF64

Protein name

PDZ domain-containing protein GIPC3

Protein function

Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	112 → 191	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. Highest levels are found in jejunum, lymph node, parietal lobe, fetal spleen and fetal thymus. Expressed in cervical, melanoma, chronic myelogenous and gastric cancer cell lines. {ECO:000026

Sequence

MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRE
LYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTED
ALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLREL
PKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLRSGGAATVEEAPSEFE
EEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEV
WAAIGEAREACG

Sequence length

312

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 15	Likely pathogenic; Pathogenic	rs727503062, rs2032380956, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs1568278651	RCV004700476 RCV003990946 RCV000023732 RCV000023733 RCV000023734 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GIPC3-related disorder	Likely pathogenic	rs2512423085	RCV003941988	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Pathogenic	rs761543680	RCV001291327	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727504771, rs727503062, rs876657692	RCV000156085 RCV000150720 RCV000219624	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Likely pathogenic	rs1348505504	RCV000761190	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (11)
Acute myeloid leukemia	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 15	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	21326233	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
nonsyndromic genetic hearing loss	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	11836571,17690910,21660509,21326233,9286457	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (17)
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	30368385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	23226338, 33168789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 15	Deafness	UNIPROT_DG	21326233, 21660509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 15	Deafness	GENOMICS_ENGLAND_DG	9286457		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 15	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 15	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrocytosis Familial 2	Erythrocytosis	Pubtator	34071867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	21660509, 22363784, 32682410, 32864763, 32991204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	34071867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	23510777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	17690910, 21660509, 23510777, 23743496, 25296581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	21326233, 21660509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	21660509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	21326233, 22363784, 25296581, 29605370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GRXCR1	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CLRN2	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CEACAM16	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
ESRRB	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
OTOG	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

GIPC3 (GIPC PDZ domain containing family member 3)

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