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COL21A1 Gene

protein-coding   GIFtS: 55
GCID: GC06M055968

Collagen, Type XXI, 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 XXI, Alpha 11 2     Collagen Alpha-1(XXI) Chain2
COLA1L2     dJ682J15.12
Alpha 1 Chain-Like Collagen2     dJ708F5.12
Alpha 1 Type XXI Collagen2     COL1AL3

External Ids:    HGNC: 170251   Entrez Gene: 815782   Ensembl: ENSG000001247497   OMIM: 6100025   UniProtKB: Q96P443   

Export aliases for COL21A1 gene to outside databases

Previous GC identifers: GC06M055923 GC06M056029 GC06M055756


(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 COL21A1 Gene:
This gene encodes the alpha chain of type XXI collagen, a member of the FACIT collagen family (fibril-associated
collagens with interrupted helices). Type XXI collagen is localized to tissues containing type I collagen so,
like other members of this collagen family, it may serve to maintain the integrity of the extracellular matrix.
An alternatively spliced transcript variant has been described, but its full-length nature has yet to be
determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for COL21A1 Gene:
COL21A1 (collagen, type XXI, alpha 1) is a protein-coding gene. An important paralog of this gene is COL25A1.




(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_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for COL21A1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL21A1 promoter sequence
   Search Chromatin IP Primers for COL21A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL21A1


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

Entrez Gene cytogenetic band: 6p12.3-p11.2|6p12.3-p11.2   Ensembl cytogenetic band:  6p12.1   HGNC cytogenetic band: 6p12.3-p11.2

COL21A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL21A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M055968:  view genomic region     (about GC identifiers)

Start:
55,921,388 bp from pter      End:
56,258,892 bp from pter
Size:
337,505 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, 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: COLA1_HUMAN, Q96P44 (See protein sequence)
Recommended Name: Collagen alpha-1(XXI) chain precursor  
Size: 957 amino acids; 99369 Da
Developmental stage: Highest expression observed at the fetal stage. Expressed by smooth-muscle cells in the
artery wall in a PDGF-dependent way
Sequence caution: Sequence=AAH45597.1; Type=Frameshift; Positions=478;
Secondary accessions: A6NIX5 B2R8J9 Q49A51 Q71RF4 Q8WXV8 Q9H0V3
Alternative splicing: 3 isoforms:  Q96P44-1   Q96P44-2   Q96P44-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL21A1: NX_Q96P44

Explore proteomics data for COL21A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn62

  • See COL21A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_110447.2  
    ENSEMBL proteins: 
     ENSP00000433624   ENSP00000244728   ENSP00000359855   ENSP00000390958   ENSP00000359853  
     ENSP00000444384   ENSP00000359844  
    Reactome Protein details: Q96P44

    COL21A1 Human Recombinant Protein Products:

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    Novus Biologicals COL21A1 Protein
    Novus Biologicals COL21A1 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for COL21A1 

     
    antibodies-online proteins for COL21A1 (2 products) 

     
    antibodies-online peptides for COL21A1

    COL21A1 Antibody Products:

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    antibodies-online antibodies for COL21A1 (11 products) 

    COL21A1 Assay Products:

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    Search eBioscience for ELISAs for COL21A1 
    antibodies-online kits for COL21A1 (2 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

    5 InterPro protein domains:
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR008160 Collagen
     IPR008985 ConA-like_lec_gl_sf
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q96P44

    ProtoNet protein and cluster: Q96P44

    4 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB003129 Thrombospondin
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: COLA1_HUMAN, Q96P44
    Similarity: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family
    Similarity: Contains 7 collagen-like domains
    Similarity: Contains 1 laminin G-like domain
    Similarity: Contains 1 VWFA domain


    Find genes that share domains with COL21A1           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: COLA1_HUMAN, Q96P44
    Induction: Stimulated by PDGF/platelet-derived growth factor

    Animal Models:

       genOway: Develop your customized and physiologically relevant rodent model for COL21A1

    miRNA
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    miRTarBase miRNAs that target COL21A1:
    hsa-mir-335-5p (MIRT018264), hsa-mir-29c-3p (MIRT006383)

    Block miRNA regulation of human, mouse, rat COL21A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL21A1 (see all 18):
    hsa-miR-217 hsa-miR-513a-5p hsa-miR-128 hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-141* hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidCOL21A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL21A1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: COL21A1 (NM_030820)
    Sino Biological Human cDNA Clone for COL21A1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL21A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL21A1

    Cell Line
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    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL21A1


    (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
    COLA1_HUMAN, Q96P44: Secreted, extracellular space, extracellular matrix. Cytoplasm. Note=Found in the
    extracellular matrix component of blood vessel walls and in the cytoplasm of cultured human aortic smooth muscle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    lysosome1
    mitochondrion1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0031012colocalizes with extracellular matrix IDA--

    Find genes that share ontologies with COL21A1           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 COL21A1 About   (see all 7)  
    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
    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
    4Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    5Degradation of the extracellular matrix
    Extracellular matrix organization0.34


    Find genes that share SuperPaths with COL21A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL21A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway


    1 Reactome Pathway for COL21A1
        Collagen biosynthesis and modifying enzymes


    2 Kegg Pathways  (Kegg details for COL21A1):
        Protein digestion and absorption
    Proteoglycans in cancer

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL21A1
    Interactions:

        Search GeneGlobe Interaction Network for COL21A1

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

    Selected Interacting proteins for COL21A1 (ENSP000002447284) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL12A1ENSP000003251464STRING: ENSP00000325146
    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--

    Find genes that share ontologies with COL21A1           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 COL21A1 (COLA1)



    (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 COL21A1 gene: 
    NM_030820.3  

    Unigene Cluster for COL21A1:

    Collagen, type XXI, alpha 1
    Hs.47629  [show with all ESTs]
    Unigene Representative Sequence: NM_030820
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488912(uc011dxh.2) ENST00000244728(uc003pcs.3 uc003pct.1 uc011dxi.1)
    ENST00000370819(uc010jzz.3 uc011dxg.2 uc003pcu.1) ENST00000467045(uc003pcr.3)
    ENST00000482933 ENST00000467216 ENST00000461489 ENST00000484987 ENST00000469682
    ENST00000456983 ENST00000370817 ENST00000535941 ENST00000370808
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate COL21A1 (see all 18):
    hsa-miR-217 hsa-miR-513a-5p hsa-miR-128 hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-141* hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidCOL21A1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat COL21A1
      QuantiFast Probe-based Assays in human, mouse, rat COL21A1

    Additional mRNA sequence: 

    AF330693.1 AF370383.1 AF414088.1 AK096444.1 AK126586.1 AK313398.1 AL136624.1 BC045597.1 
    BC126108.1 BC143862.1 BC143863.1 BC143864.1 BC143865.1 

    10 DOTS entries:

    DT.444444  DT.446938  DT.102831166  DT.97858317  DT.40229664  DT.99991738  DT.100807987  DT.121324137 
    DT.121324150  DT.95120648 

    Selected AceView cDNA sequences (see all 71):

    AF370383 BQ893743 AF330693 CD632846 CA397287 BM680109 CB305358 AI434106 
    AA490461 AW173264 AW169386 BX458795 AA227783 BP362615 BM971460 AI933870 
    BM724875 NM_030820 N46880 AK126586 BC045597 CD632837 CD104076 W92417 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COL21A1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b
    SP1:                                                                                                                    -                     
    SP2:                                -                                                                                                         
    SP3:                                                                                                                                          
    SP4:                          -     -                                                                                                         
    SP5:                    -     -     -                                                                                                         


    ECgene alternative splicing isoforms for COL21A1

    (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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    COL21A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGTTATTC
    COL21A1 Expression
    About this image


    COL21A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Vascular endothelial growth factor-induced embryoid bodies
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Bone (Muscoskeletal System)
             HyStem+BMP4-induced SK11 cells
     
     Cartilage (Muscoskeletal System)
             HyStem+BMP4-induced SK11 cells
    COL21A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL21A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.47629

    UniProtKB/Swiss-Prot: COLA1_HUMAN, Q96P44
    Tissue specificity: Highly expressed in lymph node, jejunum, pancreas, stomach, trachea, testis, uterus and
    placenta; moderately expressed in brain, colon, lung, prostate, spinal cord, salivary gland and vascular
    smooth-muscle cells and very weakly expressed in heart, liver, kidney, bone marrow, spleen, thymus, skeletal
    muscle, adrenal gland and peripheral leukocytes. Expression in heart was higher in the right ventricle and atrium
    than in the left ventricle and atrium

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL21A1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for COL21A1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia COL21A11 collagen, type XXI, alpha 1 91.54(n)
    92.27(a)
      474945  XM_005627495.1  XP_005627552.1 
    chicken
    (Gallus gallus)
    Aves COL21A11 collagen, type XXI, alpha 1 74.92(n)
    77.32(a)
      421885  XM_004940463.1  XP_004940520.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL21A16
    collagen, type XXI, alpha 1
    75(a)
    1 ↔ 1
    GL343342.1(915648-1030496)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia col21a11 collagen, type XXI, alpha 1 68.34(n)
    66.25(a)
      100497739  XM_002934864.2  XP_002934910.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003338371 collagen alpha-1(XXI) chain-like 61.76(n)
    61.04(a)
      100333837  XM_002664080.3  XP_002664126.3 
    worm
    (Caenorhabditis elegans)
    Secernentea col-1356
    Protein COL-135, isoform a (col-135) mRNA, complet...
    31(a)
    1 → many
    IV(15129662-15131786) WBGene00000708


    ENSEMBL Gene Tree for COL21A1 (if available)
    TreeFam Gene Tree for COL21A1 (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 COL21A1 gene
    COL25A12  COL19A12  COL9A12  COL22A12  COL13A12  COL9A32  COL9A22  COL16A12  
    COL23A12  
    Selected SIMAP similar genes for COL21A1 using alignment to 6 protein entries:     COLA1_HUMAN (see all proteins) (see all similar genes):
    VWA2    VIT    MATN1    MATN2    COCH    COL6A3
    COL28A1    MATN4    ITGA11    COL6A5    DKFZp686K04147    COL22A1
    ITGA2    VWA1    COL14A1    MATN3    ITGA1    COL6A6

    Find genes that share paralogs with COL21A1           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 COL21A1 (see all 4015)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1814437911,2
    Cuntested156044484(+) AAGTTA/C/TGGCAT 2 K E mis10--------
    rs580699561,2
    C--55839593(+) ACACA-/CAAGTGT 1 -- int11Minor allele frequency- CA:0.00NA 2
    rs1865710181,2
    --55921013(+) AGGGGC/TGATAG 1 -- ds50010--------
    rs2012390571,2
    C--55921048(+) GGGCC-/TTTACTG 1 -- ds50010--------
    rs1908834891,2
    --55921099(+) ACTAAA/GCATCA 1 -- ds50010--------
    rs1444490471,2
    C--55921141(+) AAATAA/GTAGAA 1 -- ds50010--------
    rs1507818121,2
    --55921175(+) CTGGG-/CCAACA 1 -- ds50010--------
    rs575210201,2
    F--55921260(+) ATTTCG/AGGTGA 1 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs1822982231,2
    --55921269(+) GAACAC/TATTTT 1 -- ds50010--------
    rs605302341,2
    F--55921314(+) CCATTA/GAATAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for COL21A1 (55921388 - 56171388 bp, first 250kb of COL21A1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL21A1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732118CNV Deletion23290073
    esv993486CNV Deletion20482838
    esv2732119CNV Deletion23290073
    esv1388199CNV Deletion17803354
    esv2427713CNV Deletion19546169
    nsv5313CNV Insertion18451855
    nsv885911CNV Loss21882294
    nsv526703CNV Loss19592680
    nsv349404CNV Loss16902084
    esv27231CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL21A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL21A1

    (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: 610002    OMIM disorders: --


    Find genes that share disorders with COL21A1           About GenesLikeMe

    Genetic Association Database (GAD): COL21A1
    Human Genome Epidemiology (HuGE) Navigator: COL21A1 (2 documents)

    Export disorders for COL21A1 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 COL21A1 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with COL21A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new FACIT of the collagen family: COL21A1. (PubMed id 11566190)1, 2, 3, 9 Fitzgerald J. and Bateman J.F. (FEBS Lett. 2001)
    2. Genomic organization and characterization of the human type XXI collagen (COL21A1) gene. (PubMed id 11863369)1, 2, 9 Chou M.-Y. and Li H.-C. (Genomics 2002)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    6. Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. (PubMed id 23817571)1 BA... . (Nat. Genet. 2013)
    7. 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)
    8. A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. (PubMed id 17903305)4 Murabito J.M....Hwang S.J. (BMC Med. Genet. 2007)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    10. 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)

    (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: 81578 HGNC: 17025 AceView: COL21A1 Ensembl:ENSG00000124749 euGenes: HUgn81578
    ECgene: COL21A1 Kegg: 81578 H-InvDB: COL21A1

    (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)
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    NameDescription
    PharmGKB entry for COL21A1 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 COL21A1 gene:
    Search GeneIP for patents involving COL21A1

    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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