GIPC3 (GIPC PDZ domain containing family member 3)

2014-11-01  

Identity

HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
C19orf64,DFNB15,DFNB72,DFNB95
FUSION GENES

Other Information

Locus ID:

NCBI: 126326
MIM: 608792
HGNC: 18183
Ensembl: ENSG00000179855

Variants:

dbSNP: 126326
ClinVar: 126326
TCGA: ENSG00000179855
COSMIC: GIPC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179855ENST00000644452Q8TF64
ENSG00000179855ENST00000644946A0A2R8Y651

Expression (GTEx)

0
5
10
15

References

Pubmed IDYearTitleCitations
340718672021Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.3
340718672021Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.3
331687892020Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India.1
331687892020Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India.1
296053702018A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing.3
296053702018A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing.3
252965812014A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.2
252965812014A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.2
235107772013Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.9
235107772013Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.9
213262332011Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.51
216605092011Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.28
213262332011Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.51
216605092011Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.28
189508452009Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.5

Citation

Dessen P

GIPC3 (GIPC PDZ domain containing family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63792/gipc3-(gipc-pdz-domain-containing-family-member-3)