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Gene Ontology Classifications
Symbol
Name
ID
Col4a5
collagen, type IV, alpha 5
MGI:88456

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GO curators for mouse genes have assigned the following annotations to the gene product of Col4a5. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text for additional MGI annotations
References
  1. Bai X et al. (2009) Developmental distribution of collagen IV isoforms and relevance to ocular diseases. Matrix Biol, 28:194-201. (PubMed:19275937)
  2. Fox MA et al. (2007) Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals. Cell, 129:179-93. (PubMed:17418794)
  3. Lu W et al. (1999) Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics, 61:113-24. (PubMed:10534397)
  4. Manabe R et al. (2008) Transcriptome-based systematic identification of extracellular matrix proteins. Proc Natl Acad Sci U S A, 105:12849-54. (PubMed:18757743)
  5. Nagai N et al. (2001) Localization of type IV collagen a 1 to a 6 chains in basement membrane during mouse molar germ development. Int J Dev Biol, 45:827-31. (PubMed:11732842)
  6. Noakes PG et al. (1995) Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. Nature, 374:258-62. (PubMed:7885444)
  7. Qin P et al. (1997) Localization of basement membrane-associated protein isoforms during development of the ocular surface of mouse eye. Dev Dyn, 209:367-76. (PubMed:9264260)
  8. Shindo T et al. (2002) Kruppel-like zinc-finger transcription factor KLF5/BTEB2 is a target for angiotensin II signaling and an essential regulator of cardiovascular remodeling. Nat Med, 8:856-63. (PubMed:12101409)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory