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Gene : GJC3 Homo sapiens

Name  ? gap junction protein gamma 3 Cytological Location  7q22.1
Brief Description  gap junction protein gamma 3
Description  This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]
  • synonyms:
  • CX30.2,
  • gap junction protein, epsilon 1, 29kDa,
  • GJC3,
  • uc011kjd.2,
  • AF503615,
  • OTTHUMG00000156649,
  • connexin 30.2,
  • GJE1,
  • CX31.3,
  • NM_181538,
  • CX30.2,
  • GJE1,
  • HGNC:17495,
  • CX29,
  • gap junction protein, gamma 3, 30.2kDa
  • identifiers:
  • 349149,
  • ENSG00000176402,
  • GJC3

Genome feature

Region: gene ? Length: 6355  
Location: 7:99923266-99929620 reverse strand Cyto location: 7q22.1


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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

0 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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

891 SN Ps

4 Cross References

14 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results