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GIPC PDZ domain containing family, member 3

GIPC3
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 associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011] (from NCBI)
Top mentioned proteins: GIPC2, FZD3, Frizzled, NIP, GAIP
Papers on GIPC3
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
New
Petit et al., Algiers, Algeria. In Mol Genet Genomic Med, May 2015
We then performed whole exome sequencing in nine of the remaining families, and identified the causative mutations in all the patients analyzed, either in the homozygous state (eight families) or in the compound heterozygous state (one family): (c.709C>T: p.(Arg237*)) and (c.2122C>T: p.(Arg708*)) in OTOF, (c.1334T>G: p.(Leu445Trp)) in SLC26A4, (c.764T>A: p.(Met255Lys)) in GIPC3, (c.518T>A: p.(Cys173Ser)) in LHFPL5, (c.5336T>C: p.(Leu1779Pro)) in MYO15A, (c.1807G>T: p.(Val603Phe)) in OTOA, (c.6080dup: p.(Asn2027Lys*9)) in PTPRQ, and (c.6017del: p.(Gly2006Alafs*13); c.7188_7189ins14: p.(Val2397Leufs*2)) in GPR98.
A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
Schraders et al., Islamabad, Pakistan. In J Hum Genet, 2014
Mutations in GIPC3 have been shown to underlie the nonsyndromic hearing impairment linked to these loci.
Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.
Imtiaz et al., Riyadh, Saudi Arabia. In Gene, 2013
encompassing GIPC3, a recently identified hearing loss gene.
Functional proteomics, human genetics and cancer biology of GIPC family members.
Review
Katoh, Tokyo, Japan. In Exp Mol Med, 2012
GIPC1, GIPC2 and GIPC3 consist of GIPC homology 1 (GH1) domain, PDZ domain and GH2 domain.
Molecular characterization and ligand binding specificity of the PDZ domain-containing protein GIPC3 from Schistosoma japonicum.
Gao et al., Beijing, China. In Parasit Vectors, 2011
CONCLUSIONS: In this study, we first characterized a PDZ domain-containing protein GIPC3 in S. japonicum.
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Tekin et al., Miami, United States. In Plos One, 2011
Twelve homozygous mutations in known deafness genes, of which eight are novel, were identified in 12 families: MYO15A-p.Q1425X, -p.S1481P, -p.A1551D; LOXHD1-p.R1494X, -p.E955X; GIPC3-p.H170N; ILDR1-p.Q274X; MYO7A-p.G2163S; TECTA-p.Y1737C; TMC1-p.S530X; TMPRSS3-p.F13Lfs*10; TRIOBP-p.R785Sfs*50.
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
GeneRIF
Friedman et al., Rockville, United States. In Hum Genet, 2011
Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes.
Challenges in whole exome sequencing: an example from hereditary deafness.
Tekin et al., Miami, United States. In Plos One, 2011
Two novel missense homozygous variants, c.508C>A (p.H170N) in GIPC3 and c.1328C>T (p.T443M) in ZNF57, were identified in the same ∼6 Mb autozygous region on chromosome 19 in affected members of the family.
High-frequency sensorineural hearing loss and its underlying genetics (Hfhl1 and Hfhl2) in NIH Swiss mice.
Noben-Trauth et al., Rockville, United States. In J Assoc Res Otolaryngol, 2011
DNA sequence analyses suggest that both the Cdh23(ahl) and Gipc3(ahl5) variants contribute to the chromosome 10 QTL detected in the AFHL line.
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
GeneRIF
Noben-Trauth et al., Rockville, United States. In Nat Commun, 2010
Gipc3 plays a pivotal role in acoustic signal acquisition and propagation in cochlear hair cells, while mutations are associated with audiogenic seizures and sensorineural hearing loss.
[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].
GeneRIF
Deufel et al., Jena, Germany. In Hno, 2008
A maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15.
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
GeneRIF
Riazuddin et al., Lahore, Pakistan. In Hum Genet, 2007
DFNB72 is telomeric to DFNB68, the only other known deafness locus with statistically significant support for linkage to chromosome 19p.
Networking of WNT, FGF, Notch, BMP, and Hedgehog signaling pathways during carcinogenesis.
Review
Katoh, Tokyo, Japan. In Stem Cell Rev, 2007
From 1996 to 2002, we cloned and characterized WNT2B/WNT13, WNT3, WNT3A, WNT5B, WNT6, WNT7B, WNT8A, WNT8B, WNT9A/WNT14, WNT9B/WNT14B, WNT10A, WNT10B, WNT11, FZD1, FZD2, FZD3, FZD4, FZD5, FZD6, FZD7, FZD8, FZD10, FRAT1, FRAT2, NKD1, NKD2, VANGL1, RHOU/ARHU, RHOV/ARHV, GIPC2, GIPC3, FBXW11/betaTRCP2, SOX17, TCF7L1/TCF3, and established a cDNA-PCR system for snap-shot and dynamic analyses on the WNT-transcriptome.
Expression of WNT7A in human normal tissues and cancer, and regulation of WNT7A and WNT7B in human cancer.
Katoh et al., Tokyo, Japan. In Int J Oncol, 2002
We have so far cloned and characterized human WNT signaling molecules WNT2B/WNT13, WNT3, WNT3A, WNT5B, WNT6, WNT7B, WNT8A, WNT8B, WNT10A, WNT10B, WNT11, WNT14, WNT14B/WNT15, FZD1, FZD2, FZD3, FZD4, FZD5, FZD6, FZD7, FZD8, FZD10, FRAT1, FRAT2, NKD1, NKD2, VANGL1/STB2, ARHU/WRCH1, ARHV/WRCH2, GIPC2, GIPC3, betaTRCP2/FBXW1B, SOX17, and TCF-3 using bioinformatics, cDNA-library screening, and cDNA-PCR.
Up-regulation of GIPC2 in human gastric cancer.
Katoh et al., Tokyo, Japan. In Int J Oncol, 2002
GIPC1/GIPC, GIPC2, and GIPC3 are a family of central PDZ-domain proteins.
GIPC gene family (Review).
Review
Katoh, Tokyo, Japan. In Int J Mol Med, 2002
GIPC1/GIPC/RGS19IP1, GIPC2, and GIPC3 genes constitute the human GIPC gene family.
Expression of human GIPC1 in normal tissues, cancer cell lines, and primary tumors.
Katoh et al., Tokyo, Japan. In Int J Mol Med, 2002
GIPC1/RGS19IP1/GIPC, GIPC2, and GIPC3 are a family of central PDZ-domain proteins with GH1 and GH2 domains.
Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2.
GeneRIF
Katoh et al., Tokyo, Japan. In Int J Oncol, 2002
Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2
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