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

COL27A1 Gene

protein-coding   GIFtS: 50
GCID: GC09P116917

Collagen, Type XXVII, Alpha 1

  See related disease
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 XXVII, Alpha 11 2
KIAA18703 5
Collagen Alpha-1(XXVII) Chain2

External Ids:    HGNC: 229861   Entrez Gene: 853012   Ensembl: ENSG000001967397   OMIM: 6084615   UniProtKB: Q8IZC63   

Export aliases for COL27A1 gene to outside databases

Previous GC identifers: GC09P110371 GC09P112294 GC09P112293 GC09P113997 GC09P115957 GC09P086524


(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 COL27A1 Gene:
Fibrillar collagens, such as COL27A1, compose one of the most ancient families of extracellular matrix molecules.
They form major structural elements in extracellular matrices of cartilage, skin, and tendon (Boot-Handford et
al., 2003 (PubMed 12766169)).(supplied by OMIM, Mar 2008)

GeneCards Summary for COL27A1 Gene: 
COL27A1 (collagen, type XXVII, alpha 1) is a protein-coding gene. Diseases associated with COL27A1 include cleft lip, 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 and metal ion binding. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CORA1_HUMAN, Q8IZC6
Function: Plays a role during the calcification of cartilage and the transition of cartilage to bone

Gene Wiki entry for COL27A1 (Collagen, type XXVII, 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_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL27A1 gene promoter:
         RFX1   ISGF-3   NCX/Ncx   XBP-1   RelA   Nkx2-5   Nkx5-1   Egr-4   PPAR-alpha   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL27A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL27A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL27A1


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

Entrez Gene cytogenetic band: 9q32   Ensembl cytogenetic band:  9q32   HGNC cytogenetic band: 9q33.1

COL27A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL27A1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P116917:  view genomic region     (about GC identifiers)

Start:
116,917,840 bp from pter      End:
117,074,791 bp from pter
Size:
156,952 bases      Orientation:
plus 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: CORA1_HUMAN, Q8IZC6 (See protein sequence)
Recommended Name: Collagen alpha-1(XXVII) chain precursor  
Size: 1860 amino acids; 186892 Da
Subcellular location: Secreted, extracellular space, extracellular matrix. Note=Found on some small banded
collagen fibrils and meshworks (By similarity)
Developmental stage: Detected at E67 in the primary ossification center and is tightly restricted to the
pericellular region of the hypertrophic chondrocytes and lacunae at the very center of the future diaphysis. At
fetal 20-week highly abundant in the hypertrophic zone at the chondroosseous junction. Weakly detected around
cells in the resting and proliferative zone of the cartilaginous plate, but the intense detection occurred deep
in the hypertrophic zone near the newly formed bone. Detected throughout the extracellular matrix (ECM) in this
zone it is also closely situated around hypertrophic chondrocytes
Sequence caution: Sequence=BAB47499.1; Type=Erroneous initiation;
Secondary accessions: Q66K43 Q96JF7
Alternative splicing: 3 isoforms:  Q8IZC6-1   Q8IZC6-2   Q8IZC6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL27A1: NX_Q8IZC6

Explore proteomics data for COL27A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IZC6

  • COL27A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL27A1 Protein Expression
    REFSEQ proteins: NP_116277.2  
    ENSEMBL proteins: 
     ENSP00000348385   ENSP00000391328   ENSP00000432928  
    Reactome Protein details: Q8IZC6
    Human Recombinant Protein Products for COL27A1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005583fibrillar collagen IEA--
    GO:0005788endoplasmic reticulum lumen TAS--

    COL27A1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for COL27A1 

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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: 
    COLLAGEN: Collagens

    4 InterPro protein domains:
     IPR001791 Laminin_G
     IPR000885 Fib_collagen_C
     IPR008160 Collagen
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry Q8IZC6

    ProtoNet protein and cluster: Q8IZC6

    3 Blocks protein domains:
    IPB003129 Thrombospondin
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CORA1_HUMAN, Q8IZC6
    Domain: The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by
    controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen
    fibrils. It binds a calcium ion which is essential for its function (By similarity)
    Similarity: Belongs to the fibrillar collagen family
    Similarity: Contains 16 collagen-like domains
    Similarity: Contains 1 fibrillar collagen NC1 domain
    Similarity: Contains 1 laminin G-like domain


    COL27A1 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: CORA1_HUMAN, Q8IZC6
    Function: Plays a role during the calcification of cartilage and the transition of cartilage to bone

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0046872metal ion binding IEA--
         
    COL27A1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Col27a1):
     craniofacial  embryogenesis  growth/size  limbs/digits/tail  mortality/aging 
     reproductive system  respiratory system  skeleton 

    COL27A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL27A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL27A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL27A1 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL27A1


    (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 COL27A1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Intrinsic Prothrombin Activation Pathway0.40
    Collagen formation0.74
    Extracellular matrix organization0.39
    Assembly of collagen fibrils and other multimeric structures0.65
    Blood Coagulation Cascade0.39
    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
    4PTEN Pathway
    PTEN Pathway0.56
    Phospholipase-C Pathway0.56
    5Focal Adhesion
    Focal adhesion0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL27A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    4        Reactome Pathways for COL27A1
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Collagen formation


    5         Kegg Pathways  (Kegg details for COL27A1):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL27A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL27A1

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

    5/41 Interacting proteins for COL27A1 (Q8IZC62 ENSP000003483854) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL10A1ENSP000002432224STRING: ENSP00000243222
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL12A1ENSP000003251464STRING: ENSP00000325146
    COL13A1ENSP000003486954STRING: ENSP00000348695
    COL15A1ENSP000003641404STRING: ENSP00000364140
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    COL27A1 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 COL27A1 (CORA1)

    Search CenterWatch for drugs/clinical trials and news about COL27A1 / CORA1

    (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 COL27A1 gene: 
    NM_032888.2  

    Unigene Cluster for COL27A1:

    Collagen, type XXVII, alpha 1
    Hs.494892  [show with all ESTs]
    Unigene Representative Sequence: NM_032888
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356083(uc011lxl.2 uc004bii.3) ENST00000451716(uc010mvd.2)
    ENST00000494090 ENST00000485397 ENST00000477421 ENST00000494780 ENST00000490831
    ENST00000468565(uc011lxn.2)
    miRNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL27A1
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    GenScript: all cDNA clones in your preferred vector: COL27A1 (NM_032888)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL27A1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL27A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL27A1

    Additional mRNA sequence: 

    AB058773.1 AK021957.1 AK022485.1 AK126618.1 AY149237.1 BC006310.2 BC007696.2 BC035728.1 
    BC080610.1 

    13 DOTS entries:

    DT.95123908  DT.100042019  DT.100042018  DT.304879  DT.91898453  DT.100751755  DT.91944445  DT.97820741 
    DT.100705772  DT.92414445  DT.95363659  DT.97781005  DT.91850854 

    24/231 AceView cDNA sequences (see all 231):

    AI500558 AI349376 AA252890 AI625718 BU076229 CK902445 BQ001022 CK902444 
    AW439355 AI470120 AL047205 AU120087 CB215676 CR605514 BX090039 AI417550 
    W79683 AY149237 CA418885 AI241355 AI284654 BI767914 AI066598 BF512585 

    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

    COL27A1 expression in normal human tissues (normalized intensities)      COL27A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COL27A1 Expression
    About this image


    COL27A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Zeugopod Long Bone
             skeleton/pectoral girdle and thoracic body wall/sternum   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Meckel's Cartilage
             sensory organ/nose/nasal septum   
     
     Lung (Respiratory System)
             Trachea
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium/viscerocranium   
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal septum   

    See COL27A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL27A1

    SOURCE GeneReport for Unigene cluster: Hs.494892
        SABiosciences Custom PCR Arrays for COL27A1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL27A1

    (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 COL27A1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col27a11 , 5 collagen, type XXVII, alpha 11, 5 82.29(n)1
    81.64(a)1
      4 (33.96 cM)5
    3738641  NM_025685.31  NP_079961.31 
     632140045 
    chicken
    (Gallus gallus)
    Aves COL27A11 collagen, type XXVII, alpha 1 66.89(n)
    68.88(a)
      417231  XM_415514.3  XP_415514.3 
    lizard
    (Anolis carolinensis)
    Reptilia COL27A16
    Uncharacterized protein
    61(a)
    1 ↔ 1
    GL343398.1(812073-921137)
    zebrafish
    (Danio rerio)
    Actinopterygii col27a1b1 collagen, type XXVII, alpha 1b 62.05(n)
    63.37(a)
      560145  NM_001080575.1  NP_001074044.1 


    ENSEMBL Gene Tree for COL27A1 (if available)
    TreeFam Gene Tree for COL27A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL27A1 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  
    COL5A22  COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL4A12  
    COL11A12  
    5 SIMAP similar genes for COL27A1 using alignment to 4 protein entries:     CORA1_HUMAN (see all proteins):
    COL24A1    COL14A1    C1QTNF9    C1QTNF9B    COL6A2

    COL27A1 for paralogs           About GeneDecksing



    (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

    10/3801 SNPs in COL27A1 are shown (see all 3801)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1841184541,2
    --116916280(+) TCGACA/CGAGCC 1 -- us2k10--------
    rs1148167901,2
    C--116916736(+) GGAGGG/TGGGTA 1 -- us2k10--------
    rs1392586591,2
    C--116916736(+) GGAGG-/TGGGTA 1 -- us2k10--------
    rs1401586311,2
    C--116916890(+) GCCTGC/TGTAAG 1 -- us2k10--------
    rs14695991,2
    C,F,A,H--116916904(-) CATGCA/CCACGG 1 -- us2k121Minor allele frequency- C:0.06MN NS EA NA WA CSA 2156
    rs14695981,2
    C,F,A,H--116916931(-) CACGCT/CGATAC 1 -- us2k127Minor allele frequency- C:0.33NS EA NA CSA WA 2774
    rs1436010471,2
    C--116917007(+) GAATGG/TGACCG 1 -- us2k10--------
    rs1462996311,2
    C--116917100(+) GCTCGC/TGAACG 1 -- us2k10--------
    rs1396506511,2
    --116917227(+) CCGAGG/TGAGTT 1 -- us2k10--------
    rs125558941,2
    C,F,H--116917263(+) GTTAGT/CGGTGG 1 -- us2k19Minor allele frequency- C:0.33NA CSA WA EA 371

    HapMap Linkage Disequilibrium report for COL27A1 (116917840 - 117074791 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for COL27A1 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv33e196CNV Duplication17116639
    nsv509319CNV Insertion20534489
    nsv6677CNV Insertion18451855
    nsv522296CNV Loss19592680
    dgv947n27CNV Loss19166990
    dgv946n27CNV Loss19166990
    nsv893753CNV Loss21882294
    nsv893754CNV Loss21882294
    nsv893759CNV Loss21882294
    nsv893756CNV Loss21882294

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    (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: 608461    OMIM disorders: --

    2 diseases for COL27A1:    About MalaCards
    cleft lip    


    COL27A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): COL27A1
    Human Genome Epidemiology (HuGE) Navigator: COL27A1 (2 documents)

    Export disorders for COL27A1 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 COL27A1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with COL27A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (2008)
    4. A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family. (PubMed id 12766169)1, 3 Boot-Handford R.P....Poulsom R. (2003)
    5. Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. (PubMed id 12714037)1, 2 Pace J.M.... Byers P.H. (2003)
    6. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    7. The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. (PubMed id 15922909)1, 9 Jenkins E....Bridgewater L.C. (2005)
    8. Investigation of variants within the COL27A1 and TNC g enes and Achilles tendinopathy in two populations. (PubMed id 23192621)1 Saunders C.J....September A.V. (2013)
    9. Genome-wide association study of Tourette's syndrome. (PubMed id 22889924)1 Scharf J.M.... D.L. (2012)
    10. The SH3 domain of postsynaptic density 95 mediates inf lammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (2010)

    (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: 85301 HGNC: 22986 AceView: COL27A1 Ensembl:ENSG00000196739 euGenes: HUgn85301
    ECgene: COL27A1 Kegg: 85301 H-InvDB: COL27A1

    (According to HUGE)
    About This Section
    HUGE: KIAA1870

    (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 COL27A1 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 COL27A1 gene:
    Search GeneIP for patents involving COL27A1

    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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