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Gene : GIPC3 Homo sapiens

Name  ? GIPC PDZ domain containing family member 3 Cytological Location  19p13.3
Brief Description  GIPC PDZ domain containing family member 3
Description  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]
  • synonyms:
  • AB073738,
  • chromosome 19 open reading frame 64,
  • NM_133261,
  • DFNB15,
  • C19orf64,
  • DFNB72,
  • deafness, autosomal recessive 15,
  • DFNB15,
  • DFNB95,
  • HGNC:18183,
  • uc002lyd.5,
  • GIPC PDZ domain containing family, member 3,
  • OTTHUMG00000167425,
  • DFNB95,
  • GIPC3,
  • deafness, autosomal recessive 72,
  • DFNB72,
  • C19orf64
  • identifiers:
  • 126326,
  • ENSG00000179855,
  • GIPC3

Genome feature

Region: gene ? Length: 8064  
Location: 19:3585478-3593541 Cyto location: 19p13.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

542 SN Ps

5 Cross References

16 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results