GIPC3 (GIPC PDZ domain containing family member 3)

2014-11-01  

Identity

HGNC
GIPC3
LOCATION
19p13.3
LOCUSID
126326
ALIAS
C19orf64,DFNB15,DFNB72,DFNB95
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
213262332011Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.36
216605092011Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.20
176909102007The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.8
235107772013Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.6
118365712002Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2.5
189508452009Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.5
180665152008[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].4
252965812014A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.1
296053702018A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing.0

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