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Gene : COL4A4 Homo sapiens

Name  ? collagen type IV alpha 4 chain Cytological Location  2q36.3
Brief Description  collagen type IV alpha 4 chain
Description  This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:2206,
  • CA44,
  • NM_000092,
  • ATS2,
  • uc061teu.1,
  • OTTHUMG00000149892,
  • collagen, type IV, alpha 4,
  • BFH,
  • collagen of basement membrane, alpha-4 chain,
  • COL4A4,
  • CA44
  • identifiers:
  • 1286,
  • ENSG00000081052,
  • COL4A4

Genome feature

Region: gene ? Length: 194190  
Location: 2:226970293-227164482 reverse strand Cyto location: 2q36.3


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Proteins

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SNPs

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Disease

2 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3740 SN Ps

5 Cross References

18 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results