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Protein Coding Gene : Col4a3 collagen, type IV, alpha 3

Primary Identifier  MGI:104688 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  12828
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Predicted to enable integrin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Involved in cell surface receptor signaling pathway; glomerular basement membrane development; and negative regulation of angiogenesis. Acts upstream of or within collagen-activated tyrosine kinase receptor signaling pathway. Located in basement membrane. Part of collagen type IV trimer. Is expressed in several structures, including cardiovascular system; central nervous system; foregut; genitourinary system; and sensory organ. Used to study autosomal recessive Alport syndrome. Human ortholog(s) of this gene implicated in Alport syndrome; autosomal dominant Alport syndrome; autosomal recessive Alport syndrome; benign familial hematuria; and end stage renal disease. Orthologous to human COL4A3 (collagen type IV alpha 3 chain).
PHENOTYPE: Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds aremildly increased across all test frequencies. [provided by MGI curators]
  • synonyms:
  • collagen, type IV, alpha 3,
  • MGD-MRK-27051,
  • alpha3(IV),
  • tumstatin,
  • Col4a3

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

19 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For