QuickView for tumstatin (gene)

Gene Symbol:

COL4A3 Homo sapiens

Full name:

collagen type IV alpha 3 chain

Synonyms:

collagen alpha-3(IV) chain, collagen IV, alpha-3 polypeptide, collagen, type IV, alpha 3 (Goodpasture antigen), tumstatin

Genomic Location:

Chr 2: 227737525-227887751

Description:

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome...

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Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

E12_Q6 ,  PBX1_02 ,  AAGCCAT_MIR135A_MIR135B ,  TTANTCA_UNKNOWN ,  AP3_Q6 ,  GATA_Q6 ,  GCANCTGNY_MYOD_Q6 ,  TCTGATC_MIR383 ,  ACTTTAT_MIR1425P ,  PBX1_01 ,  CEBP_Q2 ,  ACATTCC_MIR1_MIR206 ,  CAGGTG_E12_Q6 ,  AP4_01 ,  LHX3_01 ,  MYOD_Q6 ,  GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D ,  PITX2_Q2 ,  CEBPB_02 ,  GATA6_01 ,  CTCTGGA_MIR520A_MIR525 ,  TGCCAAR_NF1_Q6 ,  MYOGENIN_Q6 ,  GATA1_05 ,  GAGCCAG_MIR149 ,  TGCACTT_MIR519C_MIR519B_MIR519A ,  AAGCACT_MIR520F ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  DR4_Q2

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-1 ,  Predicted Gene Targets for miR-135 ,  Predicted Gene Targets for miR-142-5p ,  Predicted Gene Targets for miR-20 ,  Predicted Gene Targets for miR-200b ,  Predicted Gene Targets for miR-208 ,  Predicted Gene Targets for miR-383 ,  Predicted Gene Targets for miR-29 ,  Predicted Gene Targets for miR-499

Cytogenetic Map:

2q36.3

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