QuickView for type II collagen (gene)

Gene Symbol:

COL2A1 Homo sapiens

Full name:

collagen type II alpha 1 chain

Synonyms:

ANFH, AOM, COL11A3, SEDC, STL1, collagen alpha-1(II) chain, alpha-1 type II collagen, arthroophthalmopathy, progressive (Stickler syndrome), cartilage collagen, chondrocalcin, collagen II, alpha-1 polypeptide, collagen, type II, alpha 1

Genomic Location:

Chr 12: 46653015-46684552

Description:

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondylo...

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This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

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

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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

Cytogenetic Map:

12q13.11

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