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COL24A1 Gene

protein-coding   GIFtS: 50
GCID: GC01M086194

Collagen, Type XXIV, Alpha 1

  Search for COL24A1
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 XXIV, Alpha 11 2
Collagen Alpha-1(XXIV) Chain2

External Ids:    HGNC: 208211   Entrez Gene: 2556312   Ensembl: ENSG000001715027   OMIM: 6100255   UniProtKB: Q17RW23   

Export aliases for COL24A1 gene to outside databases

Previous GC identifers: GC01M086610 GC01M085351 GC01M085487 GC01M085617 GC01M085906 GC01M084305


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for COL24A1 Gene:
COL24A1 (collagen, type XXIV, 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: COOA1_HUMAN, Q17RW2
Function: May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during
fetal development




(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_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL24A1 gene promoter:
         CRE-BP1   CREB   AP-1   deltaCREB   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL24A1 promoter sequence
   Search Chromatin IP Primers for COL24A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL24A1


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

Entrez Gene cytogenetic band: 1p22.3   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22.3-p22.2

COL24A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL24A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M086194:  view genomic region     (about GC identifiers)

Start:
86,194,916 bp from pter      End:
86,622,626 bp from pter
Size:
427,711 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: COOA1_HUMAN, Q17RW2 (See protein sequence)
Recommended Name: Collagen alpha-1(XXIV) chain precursor  
Size: 1714 amino acids; 175496 Da
Secondary accessions: C9J1X6 Q14BD7 Q59EX5 Q5VY50 Q7Z5L5
Alternative splicing: 2 isoforms:  Q17RW2-1   Q17RW2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL24A1: NX_Q17RW2

Explore proteomics data for COL24A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn155, Asn321, Asn376
  • Modification sites at PhosphoSitePlus

  • See COL24A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_690850.2  
    ENSEMBL proteins: 
     ENSP00000359603   ENSP00000409515   ENSP00000432605   ENSP00000434740   ENSP00000392531  
    Reactome Protein details: Q17RW2

    COL24A1 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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    Abcam antibodies for COL24A1
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    COL24A1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    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

    5 InterPro protein domains:
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR000885 Fib_collagen_C
     IPR008160 Collagen
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry Q17RW2

    ProtoNet protein and cluster: Q17RW2

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


    UniProtKB/Swiss-Prot: COOA1_HUMAN, Q17RW2
    Similarity: Belongs to the fibrillar collagen family
    Similarity: Contains 17 collagen-like domains
    Similarity: Contains 1 fibrillar collagen NC1 domain
    Similarity: Contains 1 laminin G-like domain


    COL24A1 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: COOA1_HUMAN, Q17RW2
    Function: May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during
    fetal development

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
         
    COL24A1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COL24A1:
     Cell cycle / mitosis defect  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL24A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL24A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL24A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL24A1

    miRNA
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    Block miRNA regulation of human, mouse, rat COL24A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL24A1 (see all 38):
    hsa-miR-411* hsa-miR-379* hsa-let-7d hsa-miR-15a hsa-miR-29a hsa-miR-16-1* hsa-miR-374a hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidCOL24A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COL24A1
    Predesigned siRNA for gene silencing in human, mouse, rat COL24A1

    Gene Editing
    Products:
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    GenScript: all cDNA clones in your preferred vector: COL24A1 (NM_152890)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL24A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL24A1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL24A1


    (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
    COOA1_HUMAN, Q17RW2: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular4
    nucleus2
    cytosol1
    golgi apparatus1
    mitochondrion1
    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--

    COL24A1 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 COL24A1 About   (see all 10)  
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL24A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 BioSystems Pathway for COL24A1
        ATF-2 transcription factor network

    2 Reactome Pathways for COL24A1
        Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures


    5 Kegg Pathways  (Kegg details for COL24A1):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL24A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL24A1
    Interactions:

        Search GeneGlobe Interaction Network for COL24A1

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

    Selected Interacting proteins for COL24A1 (ENSP000003596034) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL10A1ENSP000002432224STRING: ENSP00000243222
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL13A1ENSP000003486954STRING: ENSP00000348695
    COL14A1ENSP000002978484STRING: ENSP00000297848
    COL15A1ENSP000003641404STRING: ENSP00000364140
    About this table

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

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

    COL24A1 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 COL24A1 (COOA1)



    (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 COL24A1 gene: 
    NM_152890.5  

    Unigene Cluster for COL24A1:

    Collagen, type XXIV, alpha 1
    Hs.659516  [show with all ESTs]
    Unigene Representative Sequence: NM_152890
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370571(uc001dlj.3 uc010osd.2 uc001dlk.3 uc010ose.2 uc010osf.2)
    ENST00000426639(uc009wcq.3) ENST00000473734 ENST00000496682 ENST00000485434
    ENST00000436319(uc001dli.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat COL24A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL24A1 (see all 38):
    hsa-miR-411* hsa-miR-379* hsa-let-7d hsa-miR-15a hsa-miR-29a hsa-miR-16-1* hsa-miR-374a hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidCOL24A1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for COL24A1
    Predesigned siRNA for gene silencing in human, mouse, rat COL24A1
    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: COL24A1 (NM_152890)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL24A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL24A1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for COL24A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL24A1
      QuantiTect SYBR Green Assays in human, mouse, rat COL24A1
      QuantiFast Probe-based Assays in human, mouse, rat COL24A1

    Additional mRNA sequence: 

    AB209686.1 AK094856.1 AK308953.1 AY244357.1 BC113654.1 BC116180.2 BC117170.1 BC143715.1 
    BC143717.1 BC143718.1 

    5 DOTS entries:

    DT.100017143  DT.101975337  DT.433339  DT.405091  DT.99936094 

    Selected AceView cDNA sequences (see all 28):

    BM145695 AK094856 NM_152890 AA331798 CD638158 CD638152 AY244357 CD638151 
    CD638155 AW468746 CD638156 BF109117 CA390114 CD638146 CD638148 AI631241 
    N51674 CD638167 AI445501 BI494243 AI240366 AI039103 CD638161 BM148596 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for COL24A1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                    -                                                                                                                                       

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40a · 40b ^ 41
    SP1:                                                                                      -                     
    SP2:                                                                                                            
    SP3:                                                                                                            
    SP4:                                                                                                            


    ECgene alternative splicing isoforms for COL24A1

    (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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    COL24A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COL24A1 Expression
    About this image


    COL24A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Chondrocytes Zeugopod Epiphyseal End
             Rib
             Chondrocyte-like cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Chondrocytes Zeugopod Epiphyseal End
             Chondrocyte-like cells
    COL24A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL24A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.659516
        Custom PCR Arrays for COL24A1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for COL24A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL24A1
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    QuantiFast Probe-based Assays in human, mouse, rat COL24A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL24A1

    (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 COL24A1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col24a11 , 5 collagen, type XXIV, alpha 11, 5 82.31(n)1
    78.49(a)1
      3 (69.42 cM)5
    713551  NM_027770.21  NP_082046.21 
     1452924725 
    chicken
    (Gallus gallus)
    Aves COL24A11 collagen, type XXIV, alpha 1 70.27(n)
    65.12(a)
      424526  XM_422363.4  XP_422363.4 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-21p1.36
    si:dkey-61l1.46
    (see all 3)
    si:dkey-61l1.4
    (see all 3)
    40(a)
    35(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    8(15372422-15400643) ENSDARG00000002295
    5(30837782-30877379) ENSDARG00000092567


    ENSEMBL Gene Tree for COL24A1 (if available)
    TreeFam Gene Tree for COL24A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for COL24A1 gene
    COL4A62  COL11A22  COL4A52  COL4A42  COL5A32  COL1A12  COL4A22  COL5A22  
    COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    Selected SIMAP similar genes for COL24A1 using alignment to 4 protein entries:     COOA1_HUMAN (see all proteins) (see all similar genes):
    CTSS    AURA2    LINC00596    FAM3A    ZNF564    ZNF169
    NF2    EIF3L    FAM175A    SHANK2    APOD    DNAPTP3
    SEPT2    UTY    CRCP    COL27A1    GLT8D2    ZNF74

    COL24A1 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), 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 COL24A1 (see all 8664)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs75297641,2
    C,F,H--86194437(+) attgaG/Aagagt 1 -- ds500115Minor allele frequency- A:0.03NS EA NA WA 2030
    rs1897220891,2
    --86194598(+) AGTTAC/TTTTTT 1 -- ds50010--------
    rs1139050691,2
    C,F--86194634(+) CCATCC/ATTCTT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1928650421,2
    --86194649(+) ATGTGA/GATATC 1 -- ds50010--------
    rs1845451081,2
    --86194815(+) CTTAAC/TAATAT 1 -- ds50010--------
    rs1390877291,2
    C--86194948(+) TAGGTC/TAAGTG 1 -- ut310--------
    rs1160008781,2
    F--86194977(+) GATATA/GTTTAT 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs10478951,2
    C,F,O,A,H--86194997(-) GAAAAG/ACTTGT 1 -- ut3119Minor allele frequency- A:0.35MN NS EA NA WA 2520
    rs10478931,2
    C,F,A,H--86195047(-) GAAATA/GTTAGT 1 -- ut3122Minor allele frequency- G:0.44MN NS EA NA WA CSA 2528
    rs10478921,2
    C,F,A,H--86195066(-) ATGTCT/GCCTTG 1 -- ut31 ese323Minor allele frequency- G:0.39MN NS EA NA WA CSA 2521

    HapMap Linkage Disequilibrium report for COL24A1 (86194916 - 86444916 bp, first 250kb of COL24A1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL24A1 (see all 34):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675513CNV Deletion23128226
    esv2714329CNV Deletion23290073
    esv2075404CNV Deletion18987734
    esv1017473CNV Deletion17803354
    esv2421338CNV Deletion20811451
    esv4489CNV Deletion18987735
    esv995781CNV Deletion20482838
    esv3715CNV Deletion18987735
    esv2714307CNV Deletion23290073
    esv2714318CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL24A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL24A1

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

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    OMIM gene information: 610025    OMIM disorders: --


    COL24A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): COL24A1
    Human Genome Epidemiology (HuGE) Navigator: COL24A1 (4 documents)

    Export disorders for COL24A1 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 COL24A1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with COL24A1)
        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. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone. (PubMed id 12874293)1, 2 Koch M.... Gordon M.K. (J. Biol. Chem. 2003)
    4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    5. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    6. 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)
    7. CREB-AP1 protein complexes regulate transcription of the collagen XXIV gene (Col24a1) in osteoblasts. (PubMed id 16373341)1 Matsuo N....Ramirez F. (J. Biol. Chem. 2006)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 255631 HGNC: 20821 AceView: COL24A1 Ensembl:ENSG00000171502 euGenes: HUgn255631
    ECgene: COL24A1 Kegg: 255631 H-InvDB: COL24A1

    (According to HUGE)
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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 COL24A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL24A1 gene:
    Search GeneIP for patents involving COL24A1

    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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