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

DCHS2 Gene

protein-coding   GIFtS: 42
GCID: GC04M155155

Dachsous Cadherin-Related 2

(Previous names: cadherin-like 27, dachsous 2 (Drosophila))
(Previous symbols: CDH27, PCDH23)
  See related diseases
at  

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

Aliases
Dachsous Cadherin-Related 21     Cadherin-Like Protein VR82 3
CDH271 2 3     Protein Dachsous Homolog 22 3
PCDH231 2 3     Protocadherin PCDHJ2 3
CDHJ2 3 5     CDHR72
PCDHJ2 3 5     cadherin-272
Cadherin-Like 271 2     Protocadherin 232
Dachsous 2 (Drosophila)1 2     protocadherin-232
Cadherin-Related Family Member 71 2     Cadherin-273
Cadherin-Like Protein CDHJ2 3     

External Ids:    HGNC: 231111   Entrez Gene: 547982   Ensembl: ENSG000001974107   OMIM: 6124865   UniProtKB: Q6V1P93   

Export aliases for DCHS2 gene to outside databases

Previous GC identifers: GC04M155513 GC04M155374 GC04M150896


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for DCHS2 Gene: 
DCHS2 (dachsous cadherin-related 2) is a protein-coding gene. Diseases associated with DCHS2 include smallpox, and cerebritis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DCHS1.

UniProtKB/Swiss-Prot: PCD23_HUMAN, Q6V1P9
Function: Calcium-dependent cell-adhesion protein (By similarity)

Gene Wiki entry for DCHS2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DCHS2 gene promoter:
         COUP-TF   POU2F1a   Brachyury   HTF   COUP   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDCHS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DCHS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCHS2


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

Entrez Gene cytogenetic band: 4q31.3   Ensembl cytogenetic band:  4q31.3   HGNC cytogenetic band: 4q32.1

DCHS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCHS2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M155155:  view genomic region     (about GC identifiers)

Start:
155,155,527 bp from pter      End:
155,412,930 bp from pter
Size:
257,404 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PCD23_HUMAN, Q6V1P9 (See protein sequence)
Recommended Name: Protocadherin-23  
Size: 2916 amino acids; 322234 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: E9PC11 Q4W5P9 Q6ZS61 Q9NXU8
Alternative splicing: 4 isoforms:  Q6V1P9-1   Q6V1P9-2   Q6V1P9-3   Q6V1P9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DCHS2: NX_Q6V1P9

Explore proteomics data for DCHS2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6V1P9

  • DCHS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DCHS2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001136024.1  NP_001136025.1  NP_060109.2  

    ENSEMBL proteins: 
     ENSP00000349768   ENSP00000345062   ENSP00000408543   ENSP00000395539  

    Human Recombinant Protein Products for DCHS2: 
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    Cloud-Clone Corp. Proteins for DCHS2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    DCHS2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for DCHS2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CDHR: Cadherins / Cadherin-related

    3 InterPro protein domains:
     IPR015919 Cadherin-like
     IPR020894 Cadherin_CS
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry Q6V1P9

    ProtoNet protein and cluster: Q6V1P9

    1 Blocks protein domain: IPB002126 Cadherin

    UniProtKB/Swiss-Prot: PCD23_HUMAN, Q6V1P9
    Similarity: Contains 22 cadherin domains


    DCHS2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PCD23_HUMAN, Q6V1P9
    Function: Calcium-dependent cell-adhesion protein (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0005509calcium ion binding IEA--
         
    DCHS2 for ontologies           About GeneDecksing


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DCHS2 
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    miRNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DCHS2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007156homophilic cell adhesion IEA--

    DCHS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DCHS2 (PCD23)

    1 HMDB Compound for DCHS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about DCHS2 / PCD23

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DCHS2 gene (4 alternative transcripts): 
    NM_199348.1  NM_001142552.1  NM_001142553.1  NM_017639.3  

    Unigene Cluster for DCHS2:

    Dachsous 2 (Drosophila)
    Hs.655664  [show with all ESTs]
    Unigene Representative Sequence: NM_017639
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357232(uc003inw.2) ENST00000339452(uc003inx.2) ENST00000507542
    ENST00000504580 ENST00000456341 ENST00000443500(uc011cik.1)
    miRNA
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    Additional mRNA sequence: 

    AF169691.1 AK000054.1 AK095103.1 AK123368.1 AK127704.1 AK225200.1 AY354497.1 AY354498.1 
    BC140919.1 BX647835.1 

    5 DOTS entries:

    DT.75192211  DT.101956554  DT.442234  DT.101971734  DT.121276514 

    20 AceView cDNA sequences:

    NM_017639 AY354497 AF169691 BE208380 BE898809 AY354498 BE336923 AK095103 
    BX647835 BX506302 AK127704 AI493300 BX506301 BX116428 NM_199348 CD171613 
    AK000054 AI184027 AW468939 BE004274 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DCHS2    About this scheme

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

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          


    ECgene alternative splicing isoforms for DCHS2

    (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

    DCHS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DCHS2 Expression
    About this image


    See DCHS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DCHS2

    SOURCE GeneReport for Unigene cluster: Hs.655664

    UniProtKB/Swiss-Prot: PCD23_HUMAN, Q6V1P9
    Tissue specificity: Cerebral cortex and testis

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    In Situ
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    (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 DCHS2 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    rat
    (Rattus norvegicus)
    Mammalia Dchs21 dachsous 2 (Drosophila) 76.25(n)
    70.87(a)
      310550  XM_002729088.1  XP_002729134.1 
    lizard
    (Anolis carolinensis)
    Reptilia DCHS26
    Uncharacterized protein
    44(a)
    1 ↔ 1
    5(130384835-130591573)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000044581 protocadherin-23-like 51.76(n)
    43.1(a)
      100004458  XM_001343723.4  XP_001343759.4 


    ENSEMBL Gene Tree for DCHS2 (if available)
    TreeFam Gene Tree for DCHS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DCHS2 gene
    DCHS12  CDHR22  CELSR32  CELSR12  FAT22  CDHR12  PCDH152  FAT42  
    FAT32  CELSR22  FAT12  
    11 SIMAP similar genes for DCHS2 using alignment to 4 protein entries:     PCD23_HUMAN (see all proteins):
    PCDHJ    FAT3    ME6    ME5    DCHS1    DSC2
    ME2    Nbla04261    ME1    DKFZp434P2350    PCDHGA6

    DCHS2 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) 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

    10/5601 SNPs in DCHS2 are shown (see all 5601)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1809320851,2
    --155155040(+) TATTTG/TTTTCT 1 -- ds50010--------
    rs1835285291,2
    --155155052(+) CCTATA/TGTCAC 1 -- ds50010--------
    rs1880706151,2
    --155155094(+) TATTAG/TTTTTC 1 -- ds50010--------
    rs1501191171,2
    C--155155114(+) CCACAC/TTGAAA 1 -- ds50010--------
    rs1819914921,2
    --155155154(+) GTATAC/TGGGGA 1 -- ds50010--------
    rs1163042121,2
    C,F--155155201(+) ACCAAC/TTATTG 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs800398281,2
    C,F--155155277(+) CTCATT/CCTCCA 1 -- ds50011Minor allele frequency- C:0.05WA 118
    rs748346201,2
    C,F--155155287(+) ATTTAG/CCCTTT 1 -- ds50011Minor allele frequency- C:0.06WA 118
    rs170312771,2
    C,F,H--155155318(+) GCAGTG/ATGATC 1 -- ds500123Minor allele frequency- A:0.14NA NS EA CSA WA 2773
    rs727213801,2
    C,F--155155471(+) TGAGTC/TCTGAG 1 -- ds50011Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for DCHS2 (155155527 - 155405527 bp, first 250kb of DCHS2)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for DCHS2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658770CNV Deletion23128226
    nsv507205CNV Insertion20534489
    nsv507206CNV Insertion20534489
    esv28468CNV Loss19812545
    nsv822780CNV Gain20364138
    nsv830119CNV Gain17160897
    nsv880812CNV Gain21882294
    nsv822781CNV Gain20364138
    nsv461692CNV Gain19166990
    nsv510924CNV Complex20534489

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612486    OMIM disorders: --

    2 diseases for DCHS2:    About MalaCards
    smallpox    cerebritis


    DCHS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DCHS2

    Export disorders for DCHS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DCHS2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with DCHS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of new human cadherin genes using a combination of protein motif search and gene finding methods. (PubMed id 15003449)1, 2, 3 Hoeng J.C.... Liu Y. (2004)
    2. Genome-wide association analysis of age-at-onset in Al zheimer's disease. (PubMed id 22005931)1, 4 Kamboh M.I....Lopez O.L. (2012)
    3. Assessment of genetic determinants of the association of I^' fibrinogen in relation to cardiovascular disease. (PubMed id 21757653)1, 4 Lovely R.S....Farrell D.H. (2011)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive stre ngth index and appendicular lean mass in males. (PubMed id 22960237)1 Han Y....Deng H. (2012)
    6. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    7. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (2012)
    8. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    9. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)4 Baranzini S.E....Oksenberg J.R. (2008)
    10. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54798 HGNC: 23111 AceView: DCHS2 Ensembl:ENSG00000197410 euGenes: HUgn54798
    ECgene: DCHS2 H-InvDB: DCHS2

    (According to HUGE)
    About This Section
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    (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 DCHS2 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 DCHS2 gene:
    Search GeneIP for patents involving DCHS2

    GeneCards and IP:
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