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COL22A1 Gene

protein-coding   GIFtS: 52
GCID: GC08M139600

Collagen, Type XXII, Alpha 1

  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)
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Aliases
Collagen, Type XXII, Alpha 11 2
Collagen Alpha-1(XXII) Chain2

External Ids:    HGNC: 229891   Entrez Gene: 1690442   Ensembl: ENSG000001694367   OMIM: 6100265   UniProtKB: Q8NFW13   

Export aliases for COL22A1 gene to outside databases

Previous GC identifers: GC08P138863 GC08M139711 GC08M139284 GC08M139571 GC08M139669 GC08M134914


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COL22A1 Gene:
COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the
collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 (PubMed
15016833)).(supplied by OMIM, Mar 2008)

GeneCards Summary for COL22A1 Gene:
COL22A1 (collagen, type XXII, alpha 1) is a protein-coding gene. Diseases associated with COL22A1 include type 1 diabetes, and endotheliitis. An important paralog of this gene is COL25A1.

UniProtKB/Swiss-Prot: COMA1_HUMAN, Q8NFW1
Function: Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL22A1 gene promoter:
         SRF   GATA-3   Pbx1a   SRF (504 AA)   Lmo2   NF-kappaB   GATA-2   NF-kappaB2   HSF2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL22A1 promoter sequence
   Search Chromatin IP Primers for COL22A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL22A1


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

COL22A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL22A1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M139600:  view genomic region     (about GC identifiers)

Start:
139,600,478 bp from pter      End:
139,926,249 bp from pter
Size:
325,772 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COMA1_HUMAN, Q8NFW1 (See protein sequence)
Recommended Name: Collagen alpha-1(XXII) chain precursor  
Size: 1626 amino acids; 161145 Da
Secondary accessions: B7ZMH0 C9K0G4 Q8IVT9
Alternative splicing: 3 isoforms:  Q8NFW1-1   Q8NFW1-2   Q8NFW1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL22A1: NX_Q8NFW1

Explore proteomics data for COL22A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn375
  • Modification sites at PhosphoSitePlus

  • See COL22A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_690848.1  
    ENSEMBL proteins: 
     ENSP00000303153   ENSP00000428244   ENSP00000387655  
    Reactome Protein details: Q8NFW1

    COL22A1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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    Abcam antibodies for COL22A1
    Browse Antibodies at Cloud-Clone Corp.
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    LSBio Antibodies in human, mouse, rat for COL22A1

    COL22A1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    COLLAGEN: Collagens

    4 InterPro protein domains:
     IPR001791 Laminin_G
     IPR008160 Collagen
     IPR008985 ConA-like_lec_gl_sf
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q8NFW1

    ProtoNet protein and cluster: Q8NFW1

    4 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB003129 Thrombospondin
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: COMA1_HUMAN, Q8NFW1
    Similarity: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family
    Similarity: Contains 16 collagen-like domains
    Similarity: Contains 1 laminin G-like domain
    Similarity: Contains 1 VWFA domain


    COL22A1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COMA1_HUMAN, Q8NFW1
    Function: Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts

    Animal Models:

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL22A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL22A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL22A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL22A1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate COL22A1 (see all 12):
    hsa-miR-29c* hsa-miR-29a hsa-miR-29c hsa-miR-1267 hsa-miR-3921 hsa-miR-583 hsa-miR-1297 hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidCOL22A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COL22A1
    Predesigned siRNA for gene silencing in human, mouse, rat COL22A1

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    Clone
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    GenScript: all cDNA clones in your preferred vector: COL22A1 (NM_152888)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL22A1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL22A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COMA1_HUMAN, Q8NFW1: Secreted, extracellular space, extracellular matrix. Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    cytosol1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005788endoplasmic reticulum lumen TAS--

    COL22A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for COL22A1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Intrinsic Prothrombin Activation Pathway0.39
    Collagen formation0.75
    Blood Coagulation Cascade0.38
    2Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    5Degradation of the extracellular matrix
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL22A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 Reactome Pathway for COL22A1
        Collagen biosynthesis and modifying enzymes


    1 Kegg Pathway  (Kegg details for COL22A1):
        Protein digestion and absorption


    COL22A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL22A1
    Interactions:

        Search GeneGlobe Interaction Network for COL22A1

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

    Selected Interacting proteins for COL22A1 (ENSP000003031534) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL10A1ENSP000002432224STRING: ENSP00000243222
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL12A1ENSP000003251464STRING: ENSP00000325146
    COL13A1ENSP000003486954STRING: ENSP00000348695
    COL14A1ENSP000002978484STRING: ENSP00000297848
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030198extracellular matrix organization TAS--

    COL22A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COL22A1 (COMA1)

    1 PharmGKB related drug/compound annotation for COL22A1 gene    About this table
    Drug/compound PharmGKB Annotation
    salbutamolCA  



    COL22A1 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for COL22A1 gene: 
    NM_152888.1  

    Unigene Cluster for COL22A1:

    Collagen, type XXII, alpha 1
    Hs.117169  [show with all ESTs]
    Unigene Representative Sequence: NM_152888
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341807 ENST00000303045(uc011ljo.2 uc003yvd.3) ENST00000487854
    ENST00000522546 ENST00000517515 ENST00000484387 ENST00000435777
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat COL22A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL22A1 (see all 12):
    hsa-miR-29c* hsa-miR-29a hsa-miR-29c hsa-miR-1267 hsa-miR-3921 hsa-miR-583 hsa-miR-1297 hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidCOL22A1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for COL22A1
    Predesigned siRNA for gene silencing in human, mouse, rat COL22A1
    Clone
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    GenScript: all cDNA clones in your preferred vector: COL22A1 (NM_152888)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL22A1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for COL22A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL22A1
      QuantiTect SYBR Green Assays in human, mouse, rat COL22A1
      QuantiFast Probe-based Assays in human, mouse, rat COL22A1

    Additional mRNA sequence: 

    AF406780.1 BC042075.1 BC144535.1 

    6 DOTS entries:

    DT.91869436  DT.97790858  DT.40125062  DT.92015975  DT.40302883  DT.403766 

    Selected AceView cDNA sequences (see all 44):

    AI992022 BE049553 AA993145 BC042075 AF406780 NM_152888 BM553307 AI090570 
    AI701471 AA988032 BF311370 BI829054 AA644121 AA503523 BG370209 AA781676 
    BX094632 AI055813 BX097900 AA976185 BE349115 AI969133 BX104734 BM701408 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for COL22A1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                        -   
    SP2:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^
    SP1:                                                                                                                                                            
    SP2:  -                                                                                   -                                                                     

    ExUns: 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66
    SP1:                                                                                    
    SP2:                                                                                    


    ECgene alternative splicing isoforms for COL22A1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COL22A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTGCCTGA
    COL22A1 Expression
    About this image


    COL22A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Kidney (Urinary System)
             Renal Vesicle
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Brain (Nervous System)
             N2/LSB/S/F8/CHIR-induced cells
    COL22A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL22A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.117169

    UniProtKB/Swiss-Prot: COMA1_HUMAN, Q8NFW1
    Tissue specificity: Restrictive expression is observed at tissue junctions such as the myotendinous junction in
    skeletal and heart muscle, the articular cartilage-synovial fluid junction, or the border between the anagen hair
    follicle and the dermis in the skin. It is deposited in the basement membrane zone of the myotendinous junction
    and the hair follicle and associated with the extrafibrillar matrix in cartilage

        Custom PCR Arrays for COL22A1
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    QuantiFast Probe-based Assays in human, mouse, rat COL22A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL22A1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for COL22A1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col22a11 , 5 collagen, type XXII, alpha 11, 5 84.63(n)1
    86.83(a)1
      15 (32.31 cM)5
    697001  NM_027174.11  NP_081450.11 
     717957955 
    chicken
    (Gallus gallus)
    Aves COL22A11 collagen, type XXII, alpha 1 70.27(n)
    72.36(a)
      420315  NM_001139439.1  NP_001132911.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL22A16
    collagen, type XXII, alpha 1
    71(a)
    1 ↔ 1
    4(16721760-16909454)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia col22a11 collagen, type XXII, alpha 1 64.75(n)
    65.79(a)
      101730582  XM_004915036.1  XP_004915093.1 
    zebrafish
    (Danio rerio)
    Actinopterygii prp1 persistent plexus 60.31(n)
    60.52(a)
      100317029  XM_002665474.3  XP_002665520.3 


    ENSEMBL Gene Tree for COL22A1 (if available)
    TreeFam Gene Tree for COL22A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL22A1 gene
    COL25A12  COL19A12  COL9A12  COL13A12  COL9A32  COL9A22  COL16A12  COL21A12  
    COL23A12  
    6 SIMAP similar genes for COL22A1 using alignment to 3 protein entries:     COMA1_HUMAN (see all proteins):
    COL21A1    DKFZp434L081    FCN2    ITGA2    SFTPD    MARCO

    COL22A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for COL22A1
    PGOHUM00000244387


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COL22A1 (see all 8188)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1385787271,2
    --139600048(+) CTGTAA/GGTGGC 1 -- ds50010--------
    rs787727731,2
    C--139600079(+) CAAATT/GAATGA 1 -- ds50012Minor allele frequency- G:0.08CSA WA 120
    rs1416705671,2
    --139600109(+) GATCAG/TTCGGT 1 -- ds50010--------
    rs1887413351,2
    --139600158(+) GAGTAC/TTGGTG 1 -- ds50010--------
    rs790848651,2
    C--139600346(+) CCCTCG/ATTCAT 1 -- ds50014Minor allele frequency- A:0.08CSA WA NA EA 360
    rs1444282041,2
    --139600387(+) TGCTAC/TGGTTC 1 -- ds50010--------
    rs1816110671,2
    --139600447(+) GAAGTC/TGAATA 1 -- ds50010--------
    rs756582261,2
    C,F--139600468(+) ATCATC/AAAGAG 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs734427871,2
    C,F--139600491(+) AGGAAA/CCTTGG 1 -- ut313Minor allele frequency- C:0.06WA CSA 122
    rs758922251,2
    C--139600530(+) ATGTCG/ACATAC 1 -- ut313Minor allele frequency- A:0.11CSA NA EA 242

    HapMap Linkage Disequilibrium report for COL22A1 (139600478 - 139850478 bp, first 250kb of COL22A1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL22A1 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2737692CNV Deletion23290073
    esv2737698CNV Deletion23290073
    esv2737700CNV Deletion23290073
    esv2672597CNV Deletion23128226
    esv2737693CNV Deletion23290073
    esv2189069CNV Deletion18987734
    esv2737694CNV Deletion23290073
    esv2542263CNV Deletion19546169
    esv2737699CNV Deletion23290073
    esv2662952CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL22A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL22A1

    (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.)
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    OMIM gene information: 610026    OMIM disorders: --

    3 diseases for COL22A1:    
    About MalaCards
    type 1 diabetes    endotheliitis    neuronitis


    COL22A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): COL22A1
    Human Genome Epidemiology (HuGE) Navigator: COL22A1 (3 documents)

    Export disorders for COL22A1 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)
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    PubMed articles for COL22A1 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with COL22A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. (PubMed id 20222955)1, 4, 9 Pattaro C....Pramstaller P.P. (BMC Med. Genet. 2010)
    2. A novel marker of tissue junctions, collagen XXII. (PubMed id 15016833)1, 2, 9 Koch M.... Bruckner-Tuderman L. (J. Biol. Chem. 2004)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. A genome-wide association study of bronchodilator response in asthmatics. (PubMed id 23508266)1 Duan Q.L....Tantisira K.G. (Pharmacogenomics J. 2013)
    5. Novel locus FER is associated with serum HMW adiponectin levels. (PubMed id 21700879)4 Qi L....Hu F.B. (Diabetes 2011)
    6. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (Diabetes 2010)
    7. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PubMed id 17903306)4 Newton-Cheh C....Larson M.G. (BMC Med. Genet. 2007)
    8. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    9. Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. (PubMed id 17903304)4 Larson M.G....Levy D. (BMC Med. Genet. 2007)
    10. Genome-wide association with diabetes-related traits in the Framingham Heart Study. (PubMed id 17903298)4 Meigs J.B....Dupuis J. (BMC Med. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 169044 HGNC: 22989 AceView: COL22A1 Ensembl:ENSG00000169436 euGenes: HUgn169044
    ECgene: COL22A1 Kegg: 169044 H-InvDB: COL22A1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for COL22A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for COL22A1 gene:
    Search GeneIP for patents involving COL22A1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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