Property Summary

NCBI Gene PubMed Count 15
Grant Count 14
R01 Count 4
Funding $3,831,671.91
PubMed Score 10.21
PubTator Score 11.65

Knowledge Summary

Patent

No data available

Expression

Gene RIF (8)

PMID Text
25296581 This study expands the mutational spectrum of GIPC3 in autosomal recessive nonsyndromic hearing impairment.
23510777 This study identified a novel causative mutation in GIPC3 for congenital nonsyndromic hearing loss in a consanguineous family from Saudi Arabia.
21660509 Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes.
21326233 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.
18950845 Observational study of gene-disease association. (HuGE Navigator)
18066515 A maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15.
17690910 DFNB72 is telomeric to DFNB68, the only other known deafness locus with statistically significant support for linkage to chromosome 19p.
11836571 Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2

AA Sequence

MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRELYAKIAEAFG      1 - 70
IAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIK     71 - 140
EGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCP    141 - 210
VEAKVTSGRETLRLRSGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFA    211 - 280
RCLDSVLGEFAFPDEFVVEVWAAIGEAREACG                                          281 - 312
//

Text Mined References (15)

PMID Year Title
25296581 2014 A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
23510777 2013 Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.
21660509 2011 Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
21326233 2011 Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
18950845 2009 Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
18066515 2008 [A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].
17690910 2007 The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
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