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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COL12A1 Gene

protein-coding   GIFtS: 59
GCID: GC06M075850

Collagen, Type XII, Alpha 1

(Previous names: collagen, type XII, alpha 1-like)
(Previous symbol: COL12A1L)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Collagen, Type XII, Alpha 11 2     BA209D8.12
COL12A1L1 2 3     DJ234P15.12
Collagen Type XII Proteoglycan1 2     Collagen Alpha-1(XII) Chain2
Collagen, Type XII, Alpha 1-Like1     

External Ids:    HGNC: 21881   Entrez Gene: 13032   Ensembl: ENSG000001117997   OMIM: 1203205   UniProtKB: Q997153   

Export aliases for COL12A1 gene to outside databases

Previous GC identifers: GC06M075743 GC06M075789 GC06M072993


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL12A1 Gene:
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with
interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I
collagen, an association that is thought to modify the interactions between collagen I fibrils and the
surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified.
(provided by RefSeq, Jul 2008)

GeneCards Summary for COL12A1 Gene: 
COL12A1 (collagen, type XII, alpha 1) is a protein-coding gene. Diseases associated with COL12A1 include exostosis, and esophageal adenocarcinoma, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and FAK1 Signaling. GO annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is VWA1.

UniProtKB/Swiss-Prot: COCA1_HUMAN, Q99715
Function: Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated
with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix (By
similarity)

Gene Wiki entry for COL12A1 (Collagen, type XII, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007299.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL12A1 gene promoter:
         C/EBPbeta   AML1a   ATF-2   HTF   AP-2gamma   LCR-F1   E47   Ik-2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL12A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL12A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL12A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q12-q13   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q12-q13

COL12A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL12A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M075850:  view genomic region     (about GC identifiers)

Start:
75,794,042 bp from pter      End:
75,915,767 bp from pter
Size:
121,726 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: COCA1_HUMAN, Q99715 (See protein sequence)
Recommended Name: Collagen alpha-1(XII) chain precursor  
Size: 3063 amino acids; 333147 Da
Subunit: Trimer of identical chains each containing 190 kDa of non-triple-helical sequences
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions: O43853 Q15955 Q5VYK1 Q5VYK2 Q71UR3 Q99716
Alternative splicing: 3 isoforms:  Q99715-1   Q99715-2   Q99715-4   

Explore the universe of human proteins at neXtProt for COL12A1: NX_Q99715

Explore proteomics data for COL12A1 at MOPED 

Post-translational modifications:

  • UniProtKB: The triple-helical tail is stabilized by disulfide bonds at each end (By similarity)
  • UniProtKB: Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the
    requirement for 4-hydroxylation in vertebrates (By similarity)
  • UniProtKB: Isoform 1 O-glycosylation; glycosaminoglycan of chondroitin-sulfate type (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99715

  • COL12A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL12A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004361.3  NP_542376.2  

    ENSEMBL proteins: 
     ENSP00000399812   ENSP00000325146   ENSP00000305147   ENSP00000412864   ENSP00000421216  
     ENSP00000423423   ENSP00000393217  
    Reactome Protein details: Q99715
    Human Recombinant Protein Products for COL12A1: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005595collagen type XII NAS1427837
    GO:0005615extracellular space IDA--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0031012colocalizes with extracellular matrix IDA--

    COL12A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing
    COLPG: Proteoglycans / Extracellular Matrix : Collagen proteoglycans
    COLLAGEN: Collagens

    5/7 InterPro protein domains (see all 7):
     IPR003961 Fibronectin_type3
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR013783 Ig-like_fold
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry Q99715

    ProtoNet protein and cluster: Q99715

    4 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB003129 Thrombospondin
    IPB003962 Fibronectin type III repeat signature
    IPB008160 Collagen triple helix repeat


    UniProtKB/Swiss-Prot: COCA1_HUMAN, Q99715
    Similarity: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family
    Similarity: Contains 4 collagen-like domains
    Similarity: Contains 18 fibronectin type-III domains
    Similarity: Contains 1 laminin G-like domain
    Similarity: Contains 4 VWFA domains


    COL12A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COCA1_HUMAN, Q99715
    Function: Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated
    with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix (By
    similarity)

         Genatlas biochemistry entry for COL12A1:
    collagen,type XII,alpha 1,extracellular matrix protein,fibril associated collagen with interrupted triple helices
    (FACIT),with two splice variants 330.8,203.2kDa,respectively,expressed in collagen I-containing tissues

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0030020extracellular matrix structural constituent conferring tensile strength NAS1427837
         
    COL12A1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col12a1):
     growth/size  limbs/digits/tail  mortality/aging  skeleton 

    COL12A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col12a1tm1Debi for COL12A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL12A1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL12A1 
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    SwitchGear 3'UTR luciferase reporter plasmidCOL12A1 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL12A1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COL12A1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Extracellular matrix organization0.39
    Collagen formation0.74
    Blood Coagulation Cascade0.39
    Intrinsic Prothrombin Activation Pathway0.40
    2Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    3Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.79
    Degradation of collagen0.79
    5PTEN Pathway
    PTEN Pathway0.56
    Phospholipase-C Pathway0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL12A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5        Reactome Pathways for COL12A1
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Degradation of the extracellular matrix
    Collagen formation
    Degradation of collagen


    1         Kegg Pathway  (Kegg details for COL12A1):
        Protein digestion and absorption


    COL12A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL12A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/43 Interacting proteins for COL12A1 (Q997153 ENSP000003251464) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PXNP490233I2D: score=1 
    TLN1Q9Y4903I2D: score=1 
    COL10A1ENSP000002432224STRING: ENSP00000243222
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL13A1ENSP000003486954STRING: ENSP00000348695
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS3476925
    GO:0007155cell adhesion IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030199collagen fibril organization NAS1427837

    COL12A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL12A1 (COCA1)

    Search CenterWatch for drugs/clinical trials and news about COL12A1 / COCA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COL12A1 gene (2 alternative transcripts): 
    NM_004370.5  NM_080645.2  

    Unigene Cluster for COL12A1:

    Collagen, type XII, alpha 1
    Hs.101302  [show with all ESTs]
    Unigene Representative Sequence: NM_004370
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425443 ENST00000322507(uc021zbv.1 uc021zbw.1 uc003phs.3 uc003pht.3)
    ENST00000345356 ENST00000416123(uc003phu.1) ENST00000483888 ENST00000511023
    ENST00000493109 ENST00000419671 ENST00000474564 ENST00000486533
    miRNA
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    hsa-miR-300 hsa-miR-199a-3p hsa-miR-15a hsa-miR-449a hsa-miR-3171 hsa-miR-124 hsa-miR-1244 hsa-miR-424
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    Additional mRNA sequence: 

    AJ420501.1 AK022029.1 AK057081.1 AK307558.1 AL359627.1 BC034534.1 BC034715.1 BC050587.1 
    BC146868.1 U68139.1 U73778.1 U73779.1 

    10 DOTS entries:

    DT.87017023  DT.100762402  DT.100762401  DT.91746276  DT.95221237  DT.40232173  DT.91664852  DT.121407384 
    DT.70101412  DT.91938419 

    24/270 AceView cDNA sequences (see all 270):

    CA398208 BI767647 CA413826 AI567192 AI923317 N67161 AI753984 D62627 
    AI142490 BX507042 BM698169 BF590639 BM263377 CA418850 BQ183286 AI753354 
    BM672577 CA413988 AW956188 AI752931 CA412991 BQ004336 BM723821 CA415528 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL12A1 expression in normal human tissues (normalized intensities)      COL12A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGTGTTGT
    COL12A1 Expression
    About this image


    COL12A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Notch-transfected mesenchymal stromal cells (SB623)
             HyStem+BMP4-induced 4D20.8 cells
             Normal Human osteoblasts (NHOST)   
             BONE MARROW   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+BMP4-induced 4D20.8 cells
     
     Fibroblast
             Detroit 551
             Human Lymphatic Fibroblasts (HLF)   
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 4 entries
             Early Tenocyte Cells Limb Tendon Primordia
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Human umbilical vein endothelial cells (HUVEC)
             Endothelial progenitor cells ( Derivation and purification of endothelial precursor...

    See COL12A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL12A1

    SOURCE GeneReport for Unigene cluster: Hs.101302

    UniProtKB/Swiss-Prot: COCA1_HUMAN, Q99715
    Tissue specificity: Found in collagen I-containing tissues: both isoform 1 and isoform 2 appear in amnion,
    chorion, skeletal muscle, small intestine, and in cell culture of dermal fibroblasts, keratinocytes and
    endothelial cells. Only isoform 2 is found in lung, placenta, kidney and a squamous cell carcinoma cell line.
    Isoform 1 is also present in the corneal epithelial Bowman's membrane (BM) and the interfibrillar matrix of the
    corneal stroma, but it is not detected in the limbal BM

        SABiosciences Expression via Pathway-Focused PCR Arrays including COL12A1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Neurotoxicity in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL12A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for COL12A1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col12a11 , 5 collagen, type XII, alpha 11, 5 87.84(n)1
    92.48(a)1
      9 (43.82 cM)5
    128161  NM_007730.21  NP_031756.21 
     795989915 
    chicken
    (Gallus gallus)
    Aves COL12A11 collagen, type XII, alpha 1 75.96(n)
    78.8(a)
      395875  NM_205021.1  NP_990352.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL12A16
    collagen, type XII, alpha 1
    77(a)
    1 ↔ 1
    1(201527135-201667719)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.237902 Xenopus laevis transcribed sequence with moderate similarity more 75.6(n)    CF519332.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CF347657.12   -- 71.78(n)    CF347657.1 


    ENSEMBL Gene Tree for COL12A1 (if available)
    TreeFam Gene Tree for COL12A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL12A1 gene
    VWA12  MATN42  COL14A12  MATN32  MATN22  VIT2  COCH2  COL20A12  
    VWA22  MATN12  
    4 SIMAP similar genes for COL12A1 using alignment to 6 protein entries:     COCA1_HUMAN (see all proteins):
    COL14A1    COL20A1    ITGA2    COL21A1

    COL12A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for COL12A1
    PGOHUM00000239979


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2593 SNPs in COL12A1 are shown (see all 2593)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs600590951,2
    C,F--75793685(+) CTAGCA/CATTAA 2 -- ds50011Minor allele frequency- C:0.16EA 120
    rs1920489931,2
    --75793713(+) GTATGC/GTATAG 2 -- ds50010--------
    rs94431511,2
    C,F,H--75793899(+) TCACCG/ATATCA 2 -- ds50016Minor allele frequency- A:0.11NS EA CSA WA 538
    rs595964141,2
    C--75794016(+) AGGCC-/CTTCAA 2 -- ds50010--------
    rs1378563531,2
    --75794033(+) AGAAAC/TATGCC 2 -- ds50010--------
    rs585403341,2
    C,F--75794237(+) TACAAC/TACAAA 2 -- ut311Minor allele frequency- T:0.50WA 2
    rs1860216101,2
    C--75794343(+) GTTGAG/TGCACT 2 -- ut310--------
    rs1434405121,2
    --75794398(+) TATACC/GAGCAT 2 -- ut310--------
    rs1460819051,2
    C--75794434(+) TAGAAA/GAGGAA 2 -- ut310--------
    rs734620551,2
    C,F--75794709(+) CAAAGG/ACAAAA 2 -- ut312Minor allele frequency- A:0.08WA 120

    HapMap Linkage Disequilibrium report for COL12A1 (75794042 - 75915767 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for COL12A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv886181CNV Loss21882294
    nsv830697CNV Gain+Loss17160897


    Human Gene Mutation Database (HGMD): COL12A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COL12A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL12A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120320    OMIM disorders: --

    6 diseases for COL12A1:    About MalaCards
    exostosis    esophageal adenocarcinoma    esophagitis    squamous cell carcinoma
    adenocarcinoma    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for COL12A1:
    Exostosis

    COL12A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): COL12A1
    Human Genome Epidemiology (HuGE) Navigator: COL12A1 (3 documents)

    Export disorders for COL12A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COL12A1 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with COL12A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13. (PubMed id 9143499)1, 2, 3, 9 Gerecke D.R.... Burgeson R.E. (1997)
    2. The COL12A1 and COL14A1 genes and Achilles tendon injuries. (PubMed id 17960519)1, 4, 9 September A.V....Collins M. (2008)
    3. The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6. (PubMed id 1427837)1, 2, 9 Oh S.P....Olsen B.R. (1992)
    4. The association between the COL12A1 gene and anterior cruciate ligament ruptures. (PubMed id 19443461)1, 4 Posthumus M....Collins M. (2010)
    5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    6. The chick and human collagen alpha1(XII) gene promoter -- activity of highly conserved regions around the first exon and in the first intron. (PubMed id 9826181)1, 2 Chiquet M.... Koch M. (1998)
    7. Type XII collagen contributes to diversities in human corneal and limbal extracellular matrices. (PubMed id 9344363)1, 2 Wessel H.... SundarRaj N. (1997)
    8. No association between COL3A1, COL6A1 or COL12A1 gene variants and range of motion. (PubMed id 23013106)1 O'connell K....Collins M. (2013)
    9. Collagen XII and XIV, new partners of cartilage oligom eric matrix protein in the skin extracellular matrix suprastructure. (PubMed id 22573329)1 Agarwal P....Eckes B. (2012)
    10. NC1 long and NC3 short splice variants of type XII col lagen are overexpressed during corneal scarring. (PubMed id 22969073)1 Massoudi D....Galiacy S.D. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1303 HGNC: 2188 AceView: COL12A1 Ensembl:ENSG00000111799 euGenes: HUgn1303
    ECgene: COL12A1 Kegg: 1303 H-InvDB: COL12A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL12A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL12A1 gene:
    Search GeneIP for patents involving COL12A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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