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

COL10A1 Gene

protein-coding   GIFtS: 56
GCID: GC06M116440

collagen, type X, alpha 1
 Explore 19 diseases affiliated with
COL10A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COL10A1    

Aliases
for COL10A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Collagen, Type X, Alpha 11 2
Collagen Alpha-1(X) Chain2
Collagen X, Alpha-1 Polypeptide2
Schmid Metaphyseal Chondrodysplasia2

External Ids:    HGNC: 21851   Entrez Gene: 13002   Ensembl: ENSG000001235007   OMIM: 1201105   UniProtKB: Q036923   

Export aliases for COL10A1 gene to outside databases

Previous GC identifers: GC06M116275 GC06M116462 GC06M116485 GC06M116546 GC06M114020


Summaries
for COL10A1 gene

(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 COL10A1:
This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes
during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a
homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese
type spondylometaphyseal dysplasia (SMD). (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: COAA1_HUMAN, Q03692
Function: Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive
mineralization zones of hyaline cartilage

Gene Wiki entry for COL10A1 (Collagen, type X, alpha 1)


Genomic Views
for COL10A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL10A1 gene promoter:
         TBP   ISGF-3   AML1a   STAT5A   NF-kappaB   TFIID   NF-kappaB2   ARP-1   Sox9   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL10A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL10A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL10A1


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

Entrez Gene cytogenetic band: 6q21-q22   Ensembl cytogenetic band:  6q22.1   HGNC cytogenetic band: 6q21-q22

COL10A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL10A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M116440:  view genomic region     (about GC identifiers)

Start:
 116,440,085 bp from pter      End:
 116,479,910 bp from pter
Size:
 39,826 bases      Orientation:
 minus strand

Proteins
for COL10A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: COAA1_HUMAN, Q03692 (See protein sequence)
Recommended Name: Collagen alpha-1(X) chain precursor  
Size: 680 amino acids; 66158 Da
Subunit: Homotrimer
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
1 PDB 3D structure from and Proteopedia for COL10A1:
1GR3 (3D)    
Secondary accessions: A1L4P2

Explore the universe of human proteins at neXtProt for COL10A1: NX_Q03692

Post-translational modifications:

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q03692

    • COL10A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000484.2  
    ENSEMBL proteins: 
     ENSP00000327368   ENSP00000411285   ENSP00000392712   ENSP00000243222  
    Reactome Protein details: Q03692
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005581collagen IEA--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005938cell cortex IEA--


    COL10A1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for COL10A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COL10A1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR008983 Tumour_necrosis_fac-like_dom
     IPR008160 Collagen
     IPR001073 C1q

    Graphical View of Domain Structure for InterPro Entry Q03692

    ProtoNet protein and cluster: Q03692

    3 Blocks protein families:
    IPB001073 Complement C1q protein
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: COAA1_HUMAN, Q03692
    Similarity: Contains 1 C1q domain


    Function
    for COL10A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: COAA1_HUMAN, Q03692
    Function: Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive
    mineralization zones of hyaline cartilage

         Genatlas biochemistry entry for COL10A1:
    collagen,type X,alpha 1,short chain,expressed by chondrocytes in the hypertrophic region of the growth plate cartilage

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL10A1
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate COL10A1:
    hsa-miR-501-3p hsa-miR-502-3p hsa-miR-1297 hsa-miR-144 hsa-miR-26a hsa-miR-101 hsa-miR-26b hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmid: COL10A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL10A1 (see all 4)
    OriGene shRNA RFP: COL10A1
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    Gene Editing
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    Clone
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    Cell Line
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    LifeMap BioReagents: cell lines associated with COL10A1: Chondrogenic Package 4D20.8,
    Chondrogenic Package 7PEND24, Chondrogenic Package 7SMOO32, Chondrogenic Package E15,
    Chondrogenic Package MEL2, Chondrogenic Package SK11, Chondrogenic Package SM30,
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL10A1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046872metal ion binding IEA--


    COL10A1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for COL10A1:
     Cell cycle / mitosis defect  Increased S DNA content 

    Animal Models:
         Mouse knock-outs for COL10A1: Col10a1tm1Ksec Col10a1tm1Bhr
         10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Col10a1):
     behavior/neurological  cellular  craniofacial  growth/size  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  nervous system  skeleton 

    COL10A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for COL10A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrin Pathway
    		Integrin Pathway1.00
    		UPA-UPAR Pathway0.51
    		FAK1 Signaling0.67
    		Transendothelial Migration of Leukocytes0.38
    		GnRH Signaling0.56
    		Inhibition of Angiogenesis by TSP10.37
    2Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74
    		Secretion of collagens0.49
    		Assembly of collagen fibrils and other multimeric structures0.65
    3Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    4Degradation of the extracellular matrix
    		Degradation of the extracellular matrix1.00
    		Degradation of collagen0.79
    5Gelatin degradation by MMP19
    		Gelatin degradation by MMP191.00
    		Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 130.64

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL10A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    2 BioSystems Pathways for COL10A1 
        Senescence and Autophagy
    Endochondral Ossification

    5/9        Reactome Pathways for COL10A1 (see all 9)
        Secretion of collagens
    Assembly of collagen fibrils and other multimeric structures
    Collagen formation
    Degradation of collagen
    Gelatin degradation by MMP19



    COL10A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL10A1

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

    5/45 Interacting proteins for COL10A1 (Q036922, 3 ENSP000002432224) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    P4HBP072372, 3, ENSP000003278014MINT-13883 I2D: score=3 STRING: ENSP00000327801
    ANXA5P087583, ENSP000002965114I2D: score=3 STRING: ENSP00000296511
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL12A1ENSP000003251464STRING: ENSP00000325146
    COL13A1ENSP000003486954STRING: ENSP00000348695
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS8554571
    GO:0030198extracellular matrix organization TAS--


    COL10A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COL10A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 COL10A1
    Search CenterWatch for drugs/clinical trials and news about COL10A1 / COAA1 

    Transcripts
    for COL10A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for COL10A1 gene: 
    NM_000493.3  

    Unigene Cluster for COL10A1:

    Collagen, type X, alpha 1
    Hs.520339  [show with all ESTs]
    Unigene Representative Sequence: NM_000493
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327673 ENST00000452729 ENST00000418500 ENST00000243222(uc003pwm.3)


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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate COL10A1:
    hsa-miR-501-3p hsa-miR-502-3p hsa-miR-1297 hsa-miR-144 hsa-miR-26a hsa-miR-101 hsa-miR-26b hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmid: COL10A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL10A1 (see all 4)
    OriGene shRNA RFP: COL10A1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL10A1
    Clone
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    Primer
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    Additional cDNA sequence: 

    BC130621.1 BC130623.1 S68531.1 

    2 DOTS entries:

    DT.310407  DT.95276608 

    24/30 AceView cDNA sequences (see all 30):

    BQ026891 AA513722 BF001577 CA447328 AI623760 BQ005242 BM728321 CA420684 
    BQ771621 BU742857 NM_000493 BQ575261 AW130440 AI376003 AA627427 AI866828 
    AI858106 BI521533 AI814157 CD608626 AI815220 AA907109 AW385820 AI752114 

    GeneLoc Exon Structure


    Expression
    for COL10A1 gene

    (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

    COL10A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACCTTGTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    COL10A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/30 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 30) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Growth PlateHypertrophic ChondrocytesBone, Cartilage
    BoneAutopod Growth PlatePrehypertrophic ChondrocytesBone, Cartilage
    BoneCaudal Endochondral BonesHypertrophic ChondrocytesBone, Cartilage
    BoneCaudal Endochondral BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneCervical VertebraeHypertrophic ChondrocytesBone, Cartilage
    BoneCervical VertebraePrehypertrophic ChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesHypertrophic ChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneLumbar VertebraeHypertrophic ChondrocytesBone, Cartilage
    BoneLumbar VertebraePrehypertrophic ChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/18 LifeMap Cells (see all 18) 
    NameCategory
    Hypertrophic chondrocytes like cells (HyStem chondrogenic ...)Cartilage
    Connective tissue progenitor cells (Generation of connec...)
    Articular chondrocyte-like cells (HyStem chondrogenic ...)Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage

    See COL10A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL10A1

    SOURCE GeneReport for Unigene cluster: Hs.520339
        SABiosciences Expression via Pathway-Focused PCR Arrays including COL10A1: 
              Osteogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for COL10A1 gene

    (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 COL10A1 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LOC1008589791 collagen alpha-1(X) chain-like 71.33(n)
    75.49(a)    		   100858979  XM_003641007.1  XP_003641055.1 
    lizard
    (Anolis carolinensis)    		 Reptilia COL10A16
    COL4A36
    (see all 3)    		 --
    		 74(a)
    21(a)
    (see all 3)    		 1 ↔ 1
    possible ortholog
    (see all 3)    		 1(186425305-186427176)
    3(23491736-23526187)
    zebrafish
    (Danio rerio)    		 Actinopterygii col10a11 collagen, type X, alpha 1 59.63(n)
    57.3(a)    		   558919  NM_001083827.1  NP_001077296.1 


    ENSEMBL Gene Tree for COL10A1 (if available)
    TreeFam Gene Tree for COL10A1 (if available) 

    Paralogs
    for COL10A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL10A1 gene
    C1QL32  COL8A22  C1QL22  C1QTNF92  C1QTNF52  OTOL12  C1QB2  C1QTNF32  
    C1QTNF9B2  C1QA2  COL8A12  C1QL12  C1QTNF72  C1QTNF22  C1QC2  C1QL42  
    ADIPOQ2  
    14 SIMAP similar genes for COL10A1 using alignment to 3 protein entries:     COAA1_HUMAN (see all proteins):
    COL8A2    COL8A1    COL14A1    SFTPD    ADIPOQ    C1QB
    COL11A1    COL11A2    COL28A1    COL6A2    C1QTNF7    COL19A1
    COL21A1    COL4A5

    COL10A1 for paralogs           About GeneDecksing



    Genomic Variants
    for COL10A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/225 NCBI SNPs in COL10A1 are shown (see all 225)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1110335501,2
    		Cpathogenic196218993(-) TTCATA/GGAGTG 1 -- int10--------
    rs1110335461,2
    		Cpathogenic196224089(-) TTACTC/TGTCAG 1 -- int10--------
    rs1110335531,2
    		Cpathogenic196224102(-) ACCAGA/GAATAT 1 -- int10--------
    rs1110335541,2
    		Cpathogenic196224108(-) AATATA/GCTATT 1 -- int10--------
    rs1110335431,2
    		Cpathogenic196224202(-) GAATAC/GACCAA 1 -- int10--------
    rs1110335481,2
    		Cpathogenic196224214(-) GGCTAA/CCTGGA 1 -- int10--------
    rs1110335521,2
    		Cpathogenic196224329(-) ACTCCC/TCTTTC 1 -- int10--------
    rs792574081,2
    		--114019849(+) CTTGAG/ACCACA 1 -- int11Minor allele frequency- A:0.01WA 118
    rs784002911,2
    		F,--114021014(+) GTTCTC/TATATT 1 -- int11Minor allele frequency- T:0.13WA 118
    rs1130692151,2
    		F--114021258(+) TTTTAC/TGTTGC 1 -- int12Minor allele frequency- T:0.50CSA 4

    HapMap Linkage Disequilibrium report for COL10A1 (116440085 - 116479910 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COL10A1: --
    Human Gene Mutation Database (HGMD): COL10A1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL10A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL10A1

    Disorders / Diseases
    for COL10A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    COL10A1 for disorders           About GeneDecksing

    OMIM gene information: 120110    OMIM disorders: --

    UniProtKB/Swiss-Prot: COAA1_HUMAN, Q03692
  • Defects in COL10A1 are the cause of Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]. SMCD is a
    • dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature,
    coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide
    irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese
    type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and
    end-plate irregularity

    19 diseases for COL10A1:    About MalaCards
    metaphyseal chondrodysplasia    spondylometaphyseal dysplasia    cartilage-hair hypoplasia    chondrodysplasia
    schmid metaphyseal chondrodysplasia    age related macular degeneration    metaphyseal dysplasia    short stature
    cartilage disease    cleidocranial dysplasia    macular degeneration    pseudoachondroplasia
    hyperostosis    chondrosarcoma    scoliosis    osteoarthritis
    lung adenocarcinoma    twinning    adenocarcinoma

    3 diseases from the University of Copenhagen DISEASES database for COL10A1:
    Metaphyseal dysplasia     cartilage-hair hypoplasia     Osteoarthritis

    10/13 Novoseek disease relationships for COL10A1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metaphyseal chondrodysplasia, schmid type 96.6 7 8782043 (2), 17403716 (2), 10991694 (1), 9920912 (1) (see all 5)
    spondylometaphyseal dysplasia 87.7 4 11214689 (1), 8361538 (1), 9837818 (1)
    metaphyseal dysplasia 80 4 11214689 (1), 7607655 (1)
    cartilage-hair hypoplasia 79.5 1 14569119 (1)
    skeletal dysplasia 72.2 4 16845471 (3)
    cartilage diseases 67.3 3 15880705 (1), 16845471 (1)
    hypertrophy 59.9 8 18759285 (2), 17683641 (2), 19062577 (1), 20495570 (1) (see all 6)
    skeletal disorder 58.1 1 19113928 (1)
    short stature 56.5 4 16845471 (2), 15578582 (1)
    osteoarthritis 46.6 1 20495570 (1)

    Human Genome Epidemiology (HuGE) Navigator: COL10A1 (2 documents)

    Export disorders for COL10A1 gene to outside databases

    Publications
    for COL10A1 gene

    (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 COL10A1 gene, integrated from 9 sources (see all 106):
    (articles sorted by number of sources associating them with COL10A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6. (PubMed id 2037056)1, 2, 3, 9 Apte S.... Olsen B.R. (1991)
    2. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. (PubMed id 8782043)1, 2, 9 Wallis G.A.... Boot-Handford R.P. (1996)
    3. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. (PubMed id 15880705)1, 2, 9 Bateman J.F.... Savarirayan R. (2005)
    4. Mutation of the type X collagen gene 'COL10A1' causes spondylometaphyseal dysplasia. (PubMed id 9837818)1, 2, 9 Ikegawa S....Nakamura Y. (1998)
    5. Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia. (PubMed id 9067753)1, 2, 9 Ikegawa S.... Nakamura Y. (1997)
    6. Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10. (PubMed id 1587271)1, 2, 9 Apte S.S.... Olsen B.R. (1992)
    7. Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. (PubMed id 7876225)1, 2, 9 Chan D.... Bateman J.F. (1995)
    8. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. (PubMed id 8004099)1, 2, 9 McIntosh I.... Francomano C.A. (1994)
    9. Amino acid substitutions of conserved residues in the carboxyl- terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. (PubMed id 8304336)1, 2, 9 Wallis G.A.... Boot-Handford R.P. (1994)
    10. Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia. (PubMed id 9852679)1, 2, 9 Sawai H.... Koyama K. (1998)

    External Searches for COL10A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing COL10A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1300 HGNC: 2185 AceView: COL10A1 Ensembl:ENSG00000123500 euGenes: HUgn1300
    ECgene: COL10A1 H-InvDB: COL10A1

    Other Databases showing COL10A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL10A1 gene

    (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 COL10A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL10A1

    Intellectual Property
    for COL10A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for COL10A1 gene:
    Search GeneIP for patents involving COL10A1

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



    Products
    for COL10A1 gene

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    About This Section

     
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     Cell Lines associated with COL10A1: Chondrogenic Package 4D20.8,
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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