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

COL12A1 Gene

protein-coding   GIFtS: 56
GCID: GC06M075850

collagen, type XII, alpha 1

(Previous names: collagen, type XII, alpha 1-like )
(Previous symbol: COL12A1L)
 Explore 5 diseases affiliated with
COL12A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COL12A1    

Aliases
for COL12A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Collagen, Type XII, Alpha 11 2     DJ234P15.12
COL12A1L1 2 3     Collagen Alpha-1(XII) Chain2
Collagen, Type XII, Alpha 1-Like1     Collagen Type XII Proteoglycan2
BA209D8.12     

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


Summaries
for COL12A1 gene

(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:
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)

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)


Genomic Views
for COL12A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  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 plasmid: COL12A1 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

Proteins
for COL12A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • The triple-helical tail is stabilized by disulfide bonds at each end (By similarity)1
  • 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)1
  • Isoform 1 O-glycosylation; glycosaminoglycan of chondroitin-sulfate type (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99715

    • COL12A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000325146   ENSP00000399812   ENSP00000305147   ENSP00000412864   ENSP00000421216  
     ENSP00000423423   ENSP00000393217  
    Reactome Protein details: Q99715
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    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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    Protein Domains /
    Families
    for COL12A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COL12A1 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    Function
    for COL12A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

         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

    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
    SwitchGear 3'UTR luciferase reporter plasmid: COL12A1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    LifeMap BioReagents: cell line associated with COL12A1: PureStem 4D20.8, NCr-fac Progenitor

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030020extracellular matrix structural constituent conferring tensile strength NAS1427837


    COL12A1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Col12a1tm1Debi for COL12A1
         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


    Pathways & Interactions
    for COL12A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrin Pathway
    		Integrin Pathway1.00
    		UPA-UPAR Pathway0.51
    		FAK1 Signaling0.67
    		Transendothelial Migration of Leukocytes0.38
    		GnRH Signaling0.56
    		Inhibition of Angiogenesis by TSP10.37
    2Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    3Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74
    		Secretion of collagens0.49
    4Degradation of the extracellular matrix
    		Degradation of the extracellular matrix1.00
    		Degradation of collagen0.79
    5Blood Coagulation Cascade
    		Blood Coagulation Cascade1.00
    		Intrinsic Prothrombin Activation Pathway0.96

    Pathway sources
    See GeneCards unified pathways
    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

    5/6        Reactome Pathways for COL12A1 (see all 6)
        Extracellular matrix organization
    Secretion of collagens
    Collagen biosynthesis and modifying enzymes
    Degradation of the extracellular matrix
    Collagen formation


    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): 4 biological process terms (GO ID links to tree view):    About this table

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


    COL12A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COL12A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about COL12A1 / COCA1 

    Transcripts
    for COL12A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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:
    ENST00000322507(uc021zbv.1 uc021zbw.1 uc003phs.3 uc003pht.3)
    ENST00000425443 ENST00000345356 ENST00000416123(uc003phu.1) ENST00000483888
    ENST00000511023 ENST00000493109 ENST00000419671 ENST00000474564 ENST00000486533


    miRNA
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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate COL12A1 (see all 36):
    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
    SwitchGear 3'UTR luciferase reporter plasmid: COL12A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL12A1 (see all 4)
    OriGene shRNA RFP: COL12A1
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    Clone
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    Additional cDNA 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):

    AI754137 BM723821 BM992520 AI752931 CA418850 BQ183286 BQ000826 NM_004370 
    BM263377 CA413988 BQ574044 BU735967 CA414878 AA663291 AI754760 CA412991 
    AW239269 BF590639 BM698169 AI142490 BX507042 D62627 AI753984 AI923317 

    GeneLoc Exon Structure


    Expression
    for COL12A1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGTGTTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    COL12A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Tendons & LigamentsAxial Tendon PrimordiaEarly Tenocyte CellsTendons & Ligaments
    Tendons & LigamentsAxial Tendons and LigamnetsTenocytesTendons & Ligaments
    Tendons & LigamentsLimb Tendon PrimordiaEarly Tenocyte CellsTendons & Ligaments
    Tendons & LigamentsLimb Tendons and LigamnetsTenocytesTendons & Ligaments
    HeartMyocardiumCardiac FibroblastsEpicardium
    HeartRight VentricleHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11) 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Connective tissue progenitor cells (Generation of connec...)
    White adipocyte-like cells (Differentiation of ...)Adipose
    Nkx2-1 GFP+ cells (Efficient derivation...)

    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: 
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              Neurotoxicity in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL12A1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL12A1

    Orthologs
    for COL12A1 gene

    (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 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 75(a)
    		 1 ↔ 1
    		 1(201542981-201667060)
    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
    for COL12A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL12A1 gene
    VWA12  MATN42  COL14A12  COL9A12  MATN32  MATN22  VIT2  COL9A32  
    COCH2  COL9A22  COL20A12  VWA22  COL21A12  MATN12  
    5 SIMAP similar genes for COL12A1 using alignment to 6 protein entries:     COCA1_HUMAN (see all proteins):
    COL14A1    COL20A1    ITGA2    COL21A1    COLEC11

    COL12A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for COL12A1
    PGOHUM00000239979


    Genomic Variants
    for COL12A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1949 NCBI SNPs in COL12A1 are shown (see all 1949)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs600590951,2
    		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,--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
    		--75794434(+) TAGAAA/GAGGAA 2 -- ut310--------
    rs734620551,2
    		C,--75794709(+) CAAAGG/ACAAAA 2 -- ut312Minor allele frequency- A:0.08WA 120

    HapMap Linkage Disequilibrium report for COL12A1 (75794042 - 75915767 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for COL12A1
         1 CNV: 93817
    Human Gene Mutation Database (HGMD): COL12A1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL12A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL12A1

    Disorders / Diseases
    for COL12A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    COL12A1 for disorders           About GeneDecksing

    OMIM gene information: 120320    OMIM disorders: --

    5 diseases for COL12A1:    About MalaCards
    exostosis    squamous cell carcinoma    esophagitis    adenocarcinoma
    carcinoma

    1 disease from the University of Copenhagen DISEASES database for COL12A1:
    Exostosis
    Human Genome Epidemiology (HuGE) Navigator: COL12A1 (3 documents)

    Export disorders for COL12A1 gene to outside databases

    Publications
    for COL12A1 gene

    (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 30):
    (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 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)
    3. 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)
    4. Type XII collagen contributes to diversities in human corneal and limbal extracellular matrices. (PubMed id 9344363)1, 2 Wessel H.... SundarRaj N. (1997)
    5. The COL12A1 and COL14A1 genes and Achilles tendon injuries. (PubMed id 17960519)1, 9 September A.V....Collins M. (2008)
    6. 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)
    7. 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)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for COL12A1 gene

    (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)

    Genome Databases showing COL12A1 gene

    (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

    Other Databases showing COL12A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL12A1 gene

    (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

    Intellectual Property
    for COL12A1 gene

    (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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    for COL12A1 gene

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    About This Section

     
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