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COL27A1 Gene

protein-coding   GIFtS: 52
GCID: GC09P116917

Collagen, Type XXVII, Alpha 1

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(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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include extracellular matrix structural constituent. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for COL27A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CORA1_HUMAN, Q8IZC6 (See protein sequence)
Recommended Name: Collagen alpha-1(XXVII) chain precursor  
Size: 1860 amino acids; 186892 Da
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: 

  • Glycosylation2 at Asn271, Asn1769
  • Modification sites at PhosphoSitePlus

  • See COL27A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116277.2  
    ENSEMBL proteins: 
     ENSP00000348385   ENSP00000391328   ENSP00000432928  
    Reactome Protein details: Q8IZC6

    COL27A1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search antibodies-online for proteins for COL27A1 

     
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    antibodies-online antibodies for COL27A1 

    COL27A1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    antibodies-online kits for COL27A1 (5 products) 


    (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
     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


    Find genes that share domains with COL27A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with COL27A1           About GenesLikeMe


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

    Find genes that share phenotypes with COL27A1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for COL27A1

    miRNA
    Products:
        
    miRTarBase miRNAs that target COL27A1:
    hsa-mir-181a-5p (MIRT025143), hsa-mir-18a-3p (MIRT040778)

    Block miRNA regulation of human, mouse, rat COL27A1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate COL27A1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL27A1

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for COL27A1 (see all 4)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL27A1 (NM_032888)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL27A1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL27A1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL27A1


    (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
    CORA1_HUMAN, Q8IZC6: Secreted, extracellular space, extracellular matrix. Note=Found on some small banded
    collagen fibrils and meshworks (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with COL27A1           About GenesLikeMe


    (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 COL27A1 About   (see all 9)  
    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
    Assembly of collagen fibrils and other multimeric structures0.62
    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
    4Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    5Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56


    Find genes that share SuperPaths with COL27A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    2 Reactome Pathways for COL27A1
        Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL27A1
    Interactions:

        GeneGlobe Interaction Network for COL27A1

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

    Selected 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
    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--

    Find genes that share ontologies with COL27A1           About GenesLikeMe



    (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 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL27A1 (NM_032888)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL27A1
      QuantiTect SYBR Green Assays in human, mouse, rat COL27A1
      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 

    Selected AceView cDNA sequences (see all 231):

    BU076229 AI273473 AI580509 AI470120 AI066598 AA331004 BE041529 AW027413 
    AI417550 N77870 AA252890 BI767914 CA420731 CR605514 NM_032888 AL047205 
    CB215676 AK021957 BQ001022 AW439355 AI625718 AY149237 AI349376 CA418885 

    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™, 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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    COL27A1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Zeugopod Long Bone
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Meckel's Cartilage
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Lung (Respiratory System)
             Trachea
    COL27A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL27A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.494892
        Custom PCR Arrays for COL27A1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for COL27A1
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    QuantiFast Probe-based Assays in human, mouse, rat COL27A1
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for COL27A1 gene from Selected species (see all 12)    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 82.3(n)1
    81.71(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 68.96(n)
    71.86(a)
      417231  XM_415514.4  XP_415514.3 
    lizard
    (Anolis carolinensis)
    Reptilia COL27A16
    collagen, type XXVII, alpha 1
    61(a)
    1 ↔ 1
    GL343398.1(812073-921137)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004907701 collagen alpha-1(XXVII) chain B-like 63.16(n)
    66.62(a)
      100490770  XM_004916698.1  XP_004916755.1 
    zebrafish
    (Danio rerio)
    Actinopterygii col27a1b6
    col27a1a6
    collagen, type XXVII, alpha 1a
    58(a)
    55(a)
    1 ↔ many
    1 ↔ many
    5(67690154-67819841) ENSDARG00000028236
    16(55373410-55517762) ENSDARG00000034373


    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)
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    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

    Find genes that share paralogs with COL27A1           About GenesLikeMe



    (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 COL27A1 (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL27A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL27A1

    (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: 608461    OMIM disorders: --


    Find genes that share disorders with COL27A1           About GenesLikeMe

    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)
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    PubMed articles for COL27A1 gene, integrated from 10 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. (Mol. Med. 2010)
    2. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 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. (Genet. Med. 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. (J. Biol. Chem. 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. (Matrix Biol. 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. (DNA Res. 2001)
    7. The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. (PubMed id 15922909)1, 9 Jenkins E....Bridgewater L.C. (Matrix Biol. 2005)
    8. Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations. (PubMed id 23192621)1 Saunders C.J....September A.V. (J. Orthop. Res. 2013)
    9. Genome-wide association study of Tourette's syndrome. (PubMed id 22889924)1 Scharf J.M....Pauls D.L. (Mol. Psychiatry 2013)
    10. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)

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

    (According to HUGE)
    About This Section

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    HUGE: KIAA1870

    (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 COL27A1 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 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



    (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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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