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

COL23A1 Gene

protein-coding   GIFtS: 52
GCID: GC05M177664

collagen, type XXIII, alpha 1
 Explore 4 diseases affiliated with
COL23A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COL23A1    

Aliases
for COL23A1 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 XXIII, Alpha 11 2
DKFZp434K06211
Collagen Alpha-1(XXIII) Chain2
Procollagen, Type XXIII, Alpha 12

External Ids:    HGNC: 229901   Entrez Gene: 915222   Ensembl: ENSG000000507677   OMIM: 6100435   UniProtKB: Q86Y223   

Export aliases for COL23A1 gene to outside databases

Previous GC identifers: GC05M177733 GC05M177778 GC05M177597 GC05M172390


Summaries
for COL23A1 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 COL23A1:
COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single
pass hydrophobic transmembrane domain (Banyard et al., 2003 (PubMed 12644459)).(supplied by OMIM, Mar 2008)




Genomic Views
for COL23A1 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_000005.9  NC_018916.1  NT_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL23A1 gene promoter:
         HFH-3   SRF   ISGF-3   AP-1   SRF (504 AA)   MyoD   RORalpha2   FOXI1   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): COL23A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL23A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL23A1


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

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

COL23A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL23A1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M177664:  view genomic region     (about GC identifiers)

Start:
 177,664,617 bp from pter      End:
 178,017,556 bp from pter
Size:
 352,940 bases      Orientation:
 minus strand

Proteins
for COL23A1 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: CONA1_HUMAN, Q86Y22 (See protein sequence)
Recommended Name: Collagen alpha-1(XXIII) chain  
Size: 540 amino acids; 51944 Da
Subunit: Homotrimer (By similarity)
Subcellular location: Cell membrane; Single-pass type II membrane protein; Extracellular side (By similarity)
Secondary accessions: Q8IVR4 Q9NT93
Alternative splicing: 2 isoforms:  Q86Y22-1   Q86Y22-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL23A1: NX_Q86Y22

Post-translational modifications:

  • Undergoes proteolytic cleavage by furin protease to yield a 60 kDa soluble form that forms a homotrimer and exhibits a
    • low affinity interaction with heparin (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86Y22

    • COL23A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_775736.2  
    ENSEMBL proteins: 
     ENSP00000375069   ENSP00000385092  
    Reactome Protein details: Q86Y22
    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for COL23A1 (Collagen XXIII alpha 1)
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    OriGene Protein Over-expression Lysate: COL23A1
    OriGene Custom Protein Services for COL23A1 
    GenScript Custom Purified and Recombinant Proteins Services for COL23A1
    Novus Biologicals COL23A1 Proteins
    Novus Biologicals COL23A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005615extracellular space ----
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005886plasma membrane TAS--


    COL23A1 for ontologies           About GeneDecksing



    COL23A1 Antibody Products: 
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    Assay Products for COL23A1: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for COL23A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COL23A1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry Q86Y22

    ProtoNet protein and cluster: Q86Y22

    2 Blocks protein families:
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CONA1_HUMAN, Q86Y22
    Similarity: Contains 5 collagen-like domains


    Function
    for COL23A1 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
    miRNA
    Products:            		 OriGene 3'-UTR Clone: COL23A1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL23A1
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate COL23A1 (see all 17):
    hsa-miR-3934 hsa-miR-2052 hsa-miR-16-2* hsa-miR-19b-2* hsa-miR-125a-3p hsa-miR-520d-5p hsa-let-7a-2* hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmid: COL23A1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL23A1 (see all 7)
    OriGene shRNA RFP: COL23A1
    OriGene siRNA: COL23A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL23A1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for COL23A1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL23A1 (see all 3)
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    GenScript: all cDNA clones in your preferred vector: COL23A1 (NM_173465)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL23A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL23A1 

    Cell Line
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    Search LifeMap BioReagents cell lines for COL23A1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL23A1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008201heparin binding ----
    GO:0042803protein homodimerization activity ----


    COL23A1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for COL23A1:
     Increased S DNA content  Increased number of mitotic ce 


    Pathways & Interactions
    for COL23A1 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 - 5/7 super-pathways (see all 7) 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
    2Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    3Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74
    		Secretion of collagens0.49
    4Degradation of the extracellular matrix
    		Degradation of the extracellular matrix1.00
    		Degradation of collagen0.79
    5Blood Coagulation Cascade
    		Blood Coagulation Cascade1.00
    		Intrinsic Prothrombin Activation Pathway0.96

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL23A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5/7        Reactome Pathways for COL23A1 (see all 7)
        Secretion of transmembrane collagens
    Extracellular matrix organization
    Secretion of collagens
    Collagen biosynthesis and modifying enzymes
    Degradation of the extracellular matrix



    COL23A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL23A1

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

    5/42 Interacting proteins for COL23A1 (Q86Y223 ENSP000003750694) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FURINP099583, ENSP000002681714I2D: score=1 STRING: ENSP00000268171
    NAA38O957773, ENSP000002492994I2D: score=4 STRING: ENSP00000249299
    COL10A1ENSP000002432224STRING: ENSP00000243222
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL12A1ENSP000003251464STRING: ENSP00000325146
    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:0030198extracellular matrix organization TAS--
    GO:0070207protein homotrimerization ----


    COL23A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COL23A1 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 COL23A1
    Search CenterWatch for drugs/clinical trials and news about COL23A1 / CONA1 

    Transcripts
    for COL23A1 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 COL23A1 gene: 
    NM_173465.3  

    Unigene Cluster for COL23A1:

    Collagen, type XXIII, alpha 1
    Hs.660026  [show with all ESTs]
    Unigene Representative Sequence: NM_173465
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000390654(uc010jkt.2 uc021yiy.1 uc021yiz.1) ENST00000484750
    ENST00000407622

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate COL23A1 (see all 17):
    hsa-miR-3934 hsa-miR-2052 hsa-miR-16-2* hsa-miR-19b-2* hsa-miR-125a-3p hsa-miR-520d-5p hsa-let-7a-2* hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmid: COL23A1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL23A1 (see all 7)
    OriGene shRNA RFP: COL23A1
    OriGene siRNA: COL23A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL23A1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL23A1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL23A1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: COL23A1 (NM_173465)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL23A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL23A1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL23A1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COL23A1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL23A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL23A1

    Additional cDNA sequence: 

    AL137461.1 AY158895.1 AY898961.1 

    5 DOTS entries:

    DT.100740250  DT.406862  DT.75125190  DT.95249322  DT.91842038 

    2 AceView cDNA sequences:

    AI420126 BV191746 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for COL23A1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:                                                                                                                              
    SP2:        -                                                                                                                     
    SP3:                                                                                                                              
    SP4:                                                                                                                              
    SP5:              -                                                                                                               


    ECgene alternative splicing isoforms for COL23A1

    Expression
    for COL23A1 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

    COL23A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    COL23A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyInterstitial StromaKidney
    KidneyMetanephrosKidney
    Lower Urinary TractUreterLower Urinary Tract
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    See COL23A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL23A1

    SOURCE GeneReport for Unigene cluster: Hs.660026
        SABiosciences Custom PCR Arrays for COL23A1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL23A1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL23A1

    Orthologs
    for COL23A1 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 COL23A1 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Col23a11 , 5 collagen, type XXIII, alpha 11, 5 85.63(n)1
    91.49(a)1    		   11 (31.03 cM)5
    2377591  NM_153393.21  NP_700442.21 
     512899205 
    chicken
    (Gallus gallus)    		 Aves COL23A11 collagen, type XXIII, alpha 1 71.01(n)
    80.19(a)    		   425481  XM_003642083.1  XP_003642131.1 
    lizard
    (Anolis carolinensis)    		 Reptilia COL23A16
    		 --
    		 43(a)
    		 1 ↔ 1
    		 2(141956730-142008214)
    zebrafish
    (Danio rerio)    		 Actinopterygii si:dkeyp-44a8.41 si:dkeyp-44a8.4 61.18(n)
    64.41(a)    		   567373  XM_690666.4  XP_695758.4 


    ENSEMBL Gene Tree for COL23A1 (if available)
    TreeFam Gene Tree for COL23A1 (if available) 

    Paralogs
    for COL23A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL23A1 gene
    COL25A12  COL13A12  
    5 SIMAP similar genes for COL23A1 using alignment to 2 protein entries:     CONA1_HUMAN (see all proteins):
    COL11A1    COL11A2    FCN2    C1QTNF9B    COL5A1

    COL23A1 for paralogs           About GeneDecksing



    Genomic Variants
    for COL23A1 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

    10/7604 NCBI SNPs in COL23A1 are shown (see all 7604)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1841129971,2
    		--177664130(+) GGCACA/CCATCA 1 -- int10--------
    rs1463467831,2
    		--177664165(+) TTCTTC/TACTTT 1 -- int10--------
    rs1381330611,2
    		--177664210(+) GGTCTC/TGAACT 1 -- int10--------
    rs1175497501,2
    		F,--177664223(+) TGGGCT/CCAAGT 1 -- int11Minor allele frequency- C:0.03EA 120
    rs1866409821,2
    		--177664244(+) CCTTGC/TCCTCC 1 -- int10--------
    rs77157621,2
    		C,F,A,H,--177664297(+) AAATCG/ACCATT 1 -- int116Minor allele frequency- A:0.13NS EA NA WA 2210
    rs1918872431,2
    		--177664364(+) TAGAGA/GAGCAC 1 -- int10--------
    rs1823947521,2
    		--177664375(+) ACAGGA/GGCTCA 1 -- int10--------
    rs1495715491,2
    		--177664623(+) AGACAC/TGCACT 1 -- ut310--------
    rs139931,2
    		C,--177664843(+) TGGCCA/GGAGTT 1 -- ut314Minor allele frequency- G:0.07MN NA WA 424

    HapMap Linkage Disequilibrium report for COL23A1 (177664617 - 177914617 bp, first 250kb of COL23A1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 29 variations for COL23A1
         11 CNVs: 99375 33917 51650 36376 51649 38602 0595 64387 22583 69258 99376
         15/18 Indels (see all 18): 46832 12784 46831 43126 12782 42976 99377 12786 46830 69259 12785 46829 99374 42405 62460

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    Disorders / Diseases
    for COL23A1 gene

    (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
    COL23A1 for disorders           About GeneDecksing

    OMIM gene information: 610043    OMIM disorders: --

    4 diseases for COL23A1:    About MalaCards
    spina bifida    hypertrichosis    kidney disease    lung cancer

    2 diseases from the University of Copenhagen DISEASES database for COL23A1:
    Hypertrichosis     Spina bifida
    Human Genome Epidemiology (HuGE) Navigator: COL23A1 (4 documents)

    Export disorders for COL23A1 gene to outside databases

    Publications
    for COL23A1 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 COL23A1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with COL23A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Type XXIII collagen, a new transmembrane collagen identified in metastatic tumor cells. (PubMed id 12644459)1, 2, 3 Banyard J.... Zetter B.R. (2003)
    2. 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)
    3. Collagen XXIII, novel ligand for integrin alpha2beta1 in the epidermis. (PubMed id 21652699)1 Veit G....Koch M. (2011)
    4. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1 Oguri M....Yamada Y. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Collagen XXIII: a potential biomarker for the detecti on of primary and recurrent non-small cell lung cancer. (PubMed id 20447926)1 Spivey K.A....Zetter B.R. (2010)
    7. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1 Yoshida T....Yamada Y. (2010)
    8. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1 Yoshida T....Yamada Y. (2009)
    9. Shedding of collagen XXIII is mediated by furin and depends on the plasma membrane microenvironment. (PubMed id 17627939)1 Veit G....Koch M. (2007)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)

    External Searches for COL23A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing COL23A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 91522 HGNC: 22990 AceView: COL23A1.1 Ensembl:ENSG00000050767 euGenes: HUgn91522
    ECgene: COL23A1 H-InvDB: COL23A1

    Other Databases showing COL23A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL23A1 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 COL23A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for COL23A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for COL23A1 gene:
    Search GeneIP for patents involving COL23A1

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



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