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

COL14A1 Gene

protein-coding   GIFtS: 62
GCID: GC08P121093

Collagen, Type XIV, Alpha 1

(Previous name: undulin)
(Previous symbol: UND)
  See related diseases
at  

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

Aliases
Collagen, Type XIV, Alpha 11 2
UND1 2 3 5
undulin1
Collagen Alpha-1(XIV) Chain2
Undulin (Fibronectin-Tenascin-Related)2
Undulin3

External Ids:    HGNC: 21911   Entrez Gene: 73732   Ensembl: ENSG000001879557   OMIM: 1203245   UniProtKB: Q057073   

Export aliases for COL14A1 gene to outside databases

Previous GC identifers: GC08P120129 GC08P121129 GC08P120740 GC08P121028 GC08P121188 GC08P116458


(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 COL14A1 Gene:
This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with
interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved
in the regulation of fibrillogenesis. (provided by RefSeq, Jan 2013)

GeneCards Summary for COL14A1 Gene: 
COL14A1 (collagen, type XIV, alpha 1) is a protein-coding gene. Diseases associated with COL14A1 include keratosis palmoplantaris papulosa, and odontogenic myxoma, 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 collagen binding. An important paralog of this gene is VWA1.

UniProtKB/Swiss-Prot: COEA1_HUMAN, Q05707
Function: Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of
interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the
fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact
with other matrix molecules or cell surface receptors (By similarity)

Gene Wiki entry for COL14A1 (Collagen, type XIV, 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_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL14A1 gene promoter:
         STAT5B   AhR   Pbx1a   Lmo2   AP-4   Ik-3   c-Ets-1   Arnt   AREB6   Nkx6-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL14A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL14A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL14A1


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

Entrez Gene cytogenetic band: 8q23   Ensembl cytogenetic band:  8q24.12   HGNC cytogenetic band: 8q23

COL14A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL14A1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P121093:  view genomic region     (about GC identifiers)

Start:
121,072,019 bp from pter      End:
121,384,275 bp from pter
Size:
312,257 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: COEA1_HUMAN, Q05707 (See protein sequence)
Recommended Name: Collagen alpha-1(XIV) chain precursor  
Size: 1796 amino acids; 193515 Da
Subunit: Homotrimer (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Sequence caution: Sequence=AAA36795.1; Type=Miscellaneous discrepancy; Sequence=AAH14640.1; Type=Frameshift;
Positions=1047;
Secondary accessions: B2RU07 O00260 O00261 O00262 Q05708 Q5XJ18 Q96C67 Q9UDF6
Alternative splicing: 3 isoforms:  Q05707-1   Q05707-2   Q05707-3   

Explore the universe of human proteins at neXtProt for COL14A1: NX_Q05707

Explore proteomics data for COL14A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in all cases and bind
    carbohydrates (By similarity)
  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains (By similarity)
  • UniProtKB: May contain numerous cysteine residues involved in inter- and intramolecular disulfide bonding (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q05707

  • COL14A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL14A1 Protein Expression
    REFSEQ proteins: NP_066933.1  
    ENSEMBL proteins: 
     ENSP00000428851   ENSP00000311809   ENSP00000297848   ENSP00000429123   ENSP00000409461  
     ENSP00000403640   ENSP00000247781   ENSP00000443974  
    Reactome Protein details: Q05707
    Human Recombinant Protein Products for COL14A1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix NAS2187872
    GO:0005581collagen NAS9427527
    GO:0005596collagen type XIV NAS9427527
    GO:0005614interstitial matrix IEA--

    COL14A1 for ontologies           About GeneDecksing



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

    5/6 InterPro protein domains (see all 6):
     IPR003961 Fibronectin_type3
     IPR001791 Laminin_G
     IPR013783 Ig-like_fold
     IPR008160 Collagen
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry Q05707

    ProtoNet protein and cluster: Q05707

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


    UniProtKB/Swiss-Prot: COEA1_HUMAN, Q05707
    Similarity: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family
    Similarity: Contains 4 collagen-like domains
    Similarity: Contains 8 fibronectin type-III domains
    Similarity: Contains 1 laminin G-like domain
    Similarity: Contains 2 VWFA domains


    COL14A1 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: COEA1_HUMAN, Q05707
    Function: Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of
    interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the
    fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact
    with other matrix molecules or cell surface receptors (By similarity)

         Genatlas biochemistry entry for COL14A1:
    collagen,type XIV,alpha 1,fibril-associated collagen with interrupted triple helices (FACIT)
    homotrimerizing,expressed in extracellular matrix,related to collagen type XIV,involved in supramolecular
    organization of fibril bundles

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent NAS2187872
    GO:0005515protein binding ----
    GO:0005518collagen binding NAS2187872
    GO:0030674protein binding, bridging NAS9427527
         
    COL14A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for COL14A1:
     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col14a1):
     integument  muscle  skeleton 

    COL14A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col14a1tm1Debi for COL14A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL14A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL14A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL14A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL14A1 

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    hsa-miR-98 hsa-let-7d hsa-let-7c hsa-let-7i hsa-miR-196a hsa-let-7e hsa-let-7g hsa-let-7b
    SwitchGear 3'UTR luciferase reporter plasmidCOL14A1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL14A1


    (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 COL14A1 About   (see all 6)                                                                                              See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL14A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway


    5        Reactome Pathways for COL14A1
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Degradation of the extracellular matrix
    Collagen formation
    Degradation of collagen


    1         Kegg Pathway  (Kegg details for COL14A1):
        Protein digestion and absorption


    COL14A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL14A1

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

    5/43 Interacting proteins for COL14A1 (Q057073 ENSP000002978484) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DCNP075853, ENSP000000527544I2D: score=2 STRING: ENSP00000052754
    CD44P160703, ENSP000002783854I2D: score=2 STRING: ENSP00000278385
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL12A1ENSP000003251464STRING: ENSP00000325146
    COL13A1ENSP000003486954STRING: ENSP00000348695
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003229ventricular cardiac muscle tissue development IEA--
    GO:0016337cell-cell adhesion NAS9427527
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030199collagen fibril organization NAS2187872

    COL14A1 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

    COL14A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL14A1 (COEA1)

    2 Novoseek inferred chemical compound relationships for COL14A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    procollagen 66.7 5 1602407 (2), 7510338 (1), 7536506 (1), 12003913 (1)
    hyaluronic acid 28.7 2 12003913 (1)

    Search CenterWatch for drugs/clinical trials and news about COL14A1 / COEA1

    (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 COL14A1 gene: 
    NM_021110.2  

    Unigene Cluster for COL14A1:

    Collagen, type XIV, alpha 1
    Hs.409662  [show with all ESTs]
    Unigene Representative Sequence: NM_021110
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498051 ENST00000309791(uc003yoz.3) ENST00000297848(uc003yox.3)
    ENST00000432943(uc003yoy.3) ENST00000523142 ENST00000434620 ENST00000440844
    ENST00000247781(uc010mde.1) ENST00000537875
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    Additional mRNA sequence: 

    AK293080.1 AK307716.1 AK311498.1 BC014640.1 BC036192.1 BC083495.1 BC140893.1 M64108.1 
    M64109.1 Y11709.1 Y11710.1 Y11711.1 

    9 DOTS entries:

    DT.316526  DT.95166350  DT.100677241  DT.100777157  DT.101969867  DT.92342243  DT.92016567  DT.91738610 
    DT.91962898 

    24/163 AceView cDNA sequences (see all 163):

    BM728358 BE895297 BG695965 BX479647 BX098443 AI240724 AA903698 BF844580 
    AI085061 AK021997 BM728804 AL553343 M64108 BX102572 AA723199 CR614438 
    CA773792 AI468483 AL544493 AA297669 AI123663 BU740135 BF196576 BQ694589 

    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

    COL14A1 expression in normal human tissues (normalized intensities)      COL14A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGATAAGTT
    COL14A1 Expression
    About this image


    COL14A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 11 entries
             Intervertebral Disc Annulus Fibrosus Cells Thoracic Intervertebral Disc
             Chondrocranium
             Normal Human Articular chondrocytes (NHAC)   
             fetal cartilage   
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 4 entries
             Early Tenocyte Cells Limb Tendon Primordia
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Epiphyseal End
             skeleton/cranium/viscerocranium   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Mesenchymal Stem Cells (Muscoskeletal System)    fully expand to see all 3 entries
             Human Mesenchymal Stem Cells (hMSC)-1   

    See COL14A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL14A1

    SOURCE GeneReport for Unigene cluster: Hs.409662
        SABiosciences Expression via Pathway-Focused PCR Arrays including COL14A1: 
              Osteogenesis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Wound Healing in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL14A1

    (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 COL14A1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col14a11 , 5 collagen, type XIV, alpha 11, 5 86.26(n)1
    89.85(a)1
      15 (21.96 cM)5
    128181  NM_181277.31  NP_851794.31 
     553077505 
    chicken
    (Gallus gallus)
    Aves COL14A11 collagen, type XIV, alpha 1 74.61(n)
    76.75(a)
      396276  NM_205334.1  NP_990665.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    73(a)
    70(a)
    1 ↔ many
    1 ↔ many
    GL344379.1(12733-33259)
    GL343269.1(1276114-1386370)
    zebrafish
    (Danio rerio)
    Actinopterygii wufb93g032 Transcribed sequence with weak similarity to protein pirS46657 (H.sapiens) S46657 collagen alpha 1(XIV) chain - human (fragments) less 72.26(n)    CA475879.1 


    ENSEMBL Gene Tree for COL14A1 (if available)
    TreeFam Gene Tree for COL14A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL14A1 gene
    VWA12  MATN42  MATN32  MATN22  VIT2  COL12A12  COCH2  COL20A12  
    VWA22  MATN12  
    9 SIMAP similar genes for COL14A1 using alignment to 6 protein entries:     COEA1_HUMAN (see all proteins):
    COL12A1    COL21A1    COL11A2    ITGA2    COL10A1    COL1A1
    COL27A1    EMID1    MSR1

    COL14A1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for COL14A1
    PGOHUM00000250230 PGOHUM00000250231


    (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

    10/4951 SNPs in COL14A1 are shown (see all 4951)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1154480071,2
    Cuntested1121569358(+) CTTTCG/AAAGGA 2 /K /E mis11Minor allele frequency- A:0.01EA 208
    rs350613191,2
    C--116464254(+) TTTTT-/TGACTT 1 -- int10--------
    rs722463661,2
    C--116505035(+) TTCTT-/TTTG  
            
    TTGTT
    1 -- int10--------
    rs715716661,2
    C--116505049(+) TGTTT-/GTT   
      T
    /TGTT
    GTTTG
    1 -- int11NA 2
    rs343775631,2
    C--116513616(+) TTTTTT/-GAGAC 1 -- int12Minor allele frequency- -:0.25NA 4
    rs357394351,2
    C--116522962(+) ACACTA/GACTTC 1 -- int10--------
    rs1888541541,2
    --116533646(+) TATATA/GTTATT 1 -- int10--------
    rs2013565501,2
    C--116535885(+) TTCAA-/ATATAT
    ATATATAT
    ATATA
    1 -- int10--------
    rs715716691,2
    C--116546799(+) TTTTTT/-CTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs345396261,2
    C--116547669(+) CGGTG-/AAAAAA 1 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for COL14A1 (121072019 - 121322019 bp, first 250kb of COL14A1)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for COL14A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6364CNV Loss18451855
    nsv891418CNV Gain21882294
    dgv7872n71CNV Gain21882294


    Human Gene Mutation Database (HGMD): COL14A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COL14A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL14A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120324    OMIM disorders: --

    18 diseases for COL14A1:    About MalaCards
    keratosis palmoplantaris papulosa    odontogenic myxoma    collagenous colitis    alcoholic liver cirrhosis
    oral lichen planus    schistosomiasis    lichen planus    keloids
    liver cirrhosis    polycystic kidney disease    acute pancreatitis    kidney disease
    alcoholism    periodontitis    liver disease    pancreatitis
    adenocarcinoma    hepatitis


    COL14A1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for COL14A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    collagen fibril 67.7 11 2187872 (3), 7678270 (2), 9477307 (1), 10417515 (1) (see all 7)
    liver fibrosis 61.6 4 8135774 (1), 17688172 (1), 12003913 (1), 7523266 (1)
    cirrhosis 8.45 1 17688172 (1)
    hyperplasia 3.93 3 7510338 (2), 7540204 (1)

    Genetic Association Database (GAD): COL14A1
    Human Genome Epidemiology (HuGE) Navigator: COL14A1 (2 documents)

    Export disorders for COL14A1 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 COL14A1 gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with COL14A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Undulin is a novel member of the fibronectin-tenascin family of extracellular matrix glycoproteins. (PubMed id 1716629)1, 2, 3, 9 Just M....Schuppan D. (1991)
    2. Complete primary structure of human collagen type XIV (undulin). (PubMed id 9427527)1, 2, 3, 9 Bauer M....Schuppan D. (1997)
    3. Undulin, an extracellular matrix glycoprotein associated with collagen fibrils. (PubMed id 2187872)1, 2, 9 Schuppan D.... Hahn E. (1990)
    4. The COL12A1 and COL14A1 genes and Achilles tendon injuries. (PubMed id 17960519)1, 4, 9 September A.V....Collins M. (2008)
    5. 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)
    6. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Regulation of undulin synthesis and gene expression in human fat-storing cells by acetaldehyde and transforming growth factor-beta 1: comparison with fibronectin. (PubMed id 8135774)1, 9 Casini A....Surrenti C. (1994)
    9. Comparative cytogenetic mapping of COL14A1, the gene for human and mouse collagen XIV. (PubMed id 10393435)1, 9 Imhof M. and Trueb B. (1999)
    10. [Age-dependent distribution of collagen and glycoproteins in the blood vessels of the human uterine tube] (PubMed id 9092299)1, 9 Gopel C....Schuppan D. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 7373 HGNC: 2191 AceView: COL14A1 Ensembl:ENSG00000187955 euGenes: HUgn7373
    ECgene: COL14A1 Kegg: 7373 H-InvDB: COL14A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL14A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL14A1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL14A1 gene:
    Search GeneIP for patents involving COL14A1

    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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