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    CDH6 cadherin 6 [ Homo sapiens (human) ]

    Gene ID: 1004, updated on 25-Apr-2018
    Official Symbol
    CDH6provided by HGNC
    Official Full Name
    cadherin 6provided by HGNC
    Primary source
    HGNC:HGNC:1765
    See related
    Ensembl:ENSG00000113361 MIM:603007; Vega:OTTHUMG00000090673
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAD6; KCAD
    Summary
    This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011]
    Expression
    Broad expression in kidney (RPKM 6.1), gall bladder (RPKM 4.1) and 17 other tissues See more
    Orthologs
    Location:
    5p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (31193655..31329146)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (31193762..31329253)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 1 light intermediate chain 1, pseudogene Neighboring gene ribosomal protein L19 pseudogene 11 Neighboring gene uncharacterized LOC105374709 Neighboring gene double homeobox 4 like 51 (pseudogene) Neighboring gene drosha ribonuclease III Neighboring gene chromosome 5 open reading frame 22

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
    NHGRI GWA Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    NHGRI GWA Catalog
    • Adherens junctions interactions, organism-specific biosystem (from REACTOME)
      Adherens junctions interactions, organism-specific biosystemThe adherens junctions (AJ) are multiprotein complexes that promote homotypic cell adhesion in nearly all types of tissue by linking membrane and cytoskeletal components at discrete contact regions (...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
      Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition, organism-specific biosystem (from WikiPathways)
      TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition, organism-specific biosystemThis pathway is based on the Figure 7 of "Cadherin 6 Is a New RUNX2 Target in TGF-? Signalling Pathway" (see bibliography). TGF-B is a target gene in thyroid cells in the causation of cancer. When TG...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ14176, DKFZp564N1116

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeletal protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    adherens junction organization TAS
    Traceable Author Statement
    more info
     
    calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell-cell adhesion mediated by cadherin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell-cell adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    cadherin-6
    Names
    cadherin 6, type 2, K-cadherin (fetal kidney)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001362435.1NP_001349364.1  cadherin-6 isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' CDS and 3' UTR, compared to variant 1, and encodes a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC091898, AC113386
      Conserved Domains (2) summary
      cd11304
      Location:163264
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
    2. NM_004932.3NP_004923.1  cadherin-6 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_004923.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC091898, D31784, DC353791
      Consensus CDS
      CCDS3894.1
      UniProtKB/Swiss-Prot
      P55285
      Related
      ENSP00000265071.2, OTTHUMP00000115839, ENST00000265071.2, OTTHUMT00000207355
      Conserved Domains (3) summary
      cd11304
      Location:163264
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:645782
      Cadherin_C; Cadherin cytoplasmic region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      31193655..31329146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008911.2XP_016864400.1  cadherin-6 isoform X2

      UniProtKB/Swiss-Prot
      P55285
      Related
      ENSP00000424843.1, OTTHUMP00000220908, ENST00000514738.5
      Conserved Domains (2) summary
      cd11304
      Location:163264
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
    2. XM_011513921.3XP_011512223.1  cadherin-6 isoform X1

      See identical proteins and their annotated locations for XP_011512223.1

      UniProtKB/Swiss-Prot
      P55285
      Conserved Domains (3) summary
      cd11304
      Location:163264
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:645782
      Cadherin_C; Cadherin cytoplasmic region
    3. XM_017008910.2XP_016864399.1  cadherin-6 isoform X1

      UniProtKB/Swiss-Prot
      P55285
      Conserved Domains (3) summary
      cd11304
      Location:163264
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:79157
      CA; Cadherin repeats
      pfam01049
      Location:645782
      Cadherin_C; Cadherin cytoplasmic region

    RNA

    1. XR_001741972.2 RNA Sequence

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