QuickView for DMM (gene)

Gene Symbol:

Col2a1 Mus musculus

Full name:

collagen, type II, alpha 1

Synonyms:

Col2, Col2a, Col2a-1, Del1, Dmm, Lpk, Rgsc856, collagen alpha-1(II) chain, alpha-1 type II collagen, chondrocalcin, procollagen, type II, alpha 1

Genomic Location:

Chr 15: 97805402-97835076

Description:

This gene encodes the alpha-1 subunit of the fibril-forming type II collagen, the major component of cartilage and the vitreous humor of the eye. The encoded preproprotein forms homotrimeric, triple helical procollagen that undergoes proteolytic processing during fibirl formation. Mice harboring certain mutations in this gene exhibit severe chondro...

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This gene encodes the alpha-1 subunit of the fibril-forming type II collagen, the major component of cartilage and the vitreous humor of the eye. The encoded preproprotein forms homotrimeric, triple helical procollagen that undergoes proteolytic processing during fibirl formation. Mice harboring certain mutations in this gene exhibit severe chondrodysplasia characterized by short limbs and trunch, craniofacial deformities and cleft palate. A complete lack of the encoded protein in mice results in postnatal lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing.

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Orthologs:

Homo sapiens ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NMYC_01 ,  CDPCR1_01 ,  MYCMAX_01 ,  MYCMAX_02 ,  CEBP_01 ,  USF_C ,  PITX2_Q2 ,  ALX4_01 ,  GCM_Q2 ,  MYOGENIN_Q6 ,  USF2_Q6 ,  OSF2_Q6 ,  SREBP_Q3 ,  MYC_Q2 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  TGCACTG_MIR148A_MIR152_MIR148B ,  GTGTGAG_MIR342 ,  GTCTTCC_MIR7 ,  GGCAGAC_MIR346 ,  GTGTCAA_MIR514 ,  CAGTCAC_MIR134 ,  CAGCTG_AP4_Q5 ,  CAGGTA_AREB6_01 ,  CAGGTG_E12_Q6 ,  TGTTTGY_HNF3_Q6 ,  CTTTGA_LEF1_Q2 ,  CTTTGT_LEF1_Q2 ,  CACGTG_MYC_Q2 ,  TGGAAA_NFAT_Q4_01 ,  GGATTA_PITX2_Q2 ,  GGGCGGR_SP1_Q6

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-134 ,  Predicted Gene Targets for miR-148 ,  Predicted Gene Targets for miR-342 ,  Predicted Gene Targets for miR-346 ,  Predicted Gene Targets for miR-7 ,  Predicted Gene Targets for miR-29

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