QuickView for CA44 (gene)

Gene Symbol:

COL4A4 Homo sapiens

Full name:

collagen type IV alpha 4 chain

Synonyms:

CA44, collagen alpha-4(IV) chain, Collagen IV, alpha-4 polypeptide, collagen of basement membrane, alpha-4 chain, collagen, type IV, alpha 4

Genomic Location:

Chr 2: 227575671-227737519

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 col...

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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.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

E12_Q6 ,  PBX1_02 ,  TTANTCA_UNKNOWN ,  AP3_Q6 ,  GATA_Q6 ,  GCANCTGNY_MYOD_Q6 ,  PBX1_01 ,  CEBP_Q2 ,  TTGGGAG_MIR150 ,  CAGGTG_E12_Q6 ,  AP4_01 ,  LHX3_01 ,  MYOD_Q6 ,  PITX2_Q2 ,  CEBPB_02 ,  GATA6_01 ,  TGCCAAR_NF1_Q6 ,  MYOGENIN_Q6 ,  GATA1_05 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  DR4_Q2

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-150 ,  Predicted Gene Targets for miR-29

Cytogenetic Map:

2q36.3

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