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    CDH8 cadherin 8 [ Homo sapiens (human) ]

    Gene ID: 1006, updated on 3-Dec-2024

    Summary

    Official Symbol
    CDH8provided by HGNC
    Official Full Name
    cadherin 8provided by HGNC
    Primary source
    HGNC:HGNC:1767
    See related
    Ensembl:ENSG00000150394 MIM:603008; AllianceGenome:HGNC:1767
    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
    Nbla04261
    Summary
    This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 2.8) and ovary (RPKM 0.2) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDH8 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (61647250..62036438, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (67428496..67824205, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (61681154..62070342, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371301 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:61297235-61297884 Neighboring gene NANOG hESC enhancer GRCh37_chr16:61357837-61358373 Neighboring gene uncharacterized LOC105371302 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:61407998-61408223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:61615153-61616128 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:61626422-61626594 Neighboring gene Sharpr-MPRA regulatory region 11181 Neighboring gene NANOG hESC enhancer GRCh37_chr16:61652273-61652774 Neighboring gene RN7SK pseudogene 76 Neighboring gene OCT4-NANOG hESC enhancers GRCh37_chr16:61905754-61906432 and GRCh37_chr16:61906433-61907110 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:61921436-61922635 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:61966823-61968022 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:61990702-61991580 Neighboring gene CDH8 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:62002410-62002927 Neighboring gene NANOG hESC enhancer GRCh37_chr16:62068143-62068644 Neighboring gene uncharacterized LOC124903777 Neighboring gene NANOG hESC enhancer GRCh37_chr16:62078473-62078974 Neighboring gene uncharacterized LOC124903778

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell adhesion mediated by cadherin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cold IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in axon terminus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in synaptic cleft IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cadherin-8
    Names
    cadherin 8, type 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001410893.1NP_001397822.1  cadherin-8 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC012174, AC040161, AC092124, AC092125, AC092129
      Consensus CDS
      CCDS92168.1
      UniProtKB/TrEMBL
      J3QLE6
      Related
      ENSP00000463511.1, ENST00000584337.5
    2. NM_001796.5NP_001787.2  cadherin-8 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001787.2

      Status: REVIEWED

      Source sequence(s)
      AC092125, AK124734, BC113416, R49605
      Consensus CDS
      CCDS10802.1
      UniProtKB/Swiss-Prot
      B3KWC1, P55286, Q14DC6, Q9ULB2
      UniProtKB/TrEMBL
      J3KRI5
      Related
      ENSP00000462701.1, ENST00000577390.6
      Conserved Domains (3) summary
      cd11304
      Location:281387
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:87165
      CA; Cadherin repeats
      pfam01049
      Location:645790
      Cadherin_C; Cadherin cytoplasmic region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      61647250..62036438 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255760.5XP_005255817.1  cadherin-8 isoform X1

      See identical proteins and their annotated locations for XP_005255817.1

      UniProtKB/TrEMBL
      J3KRI5
      Related
      ENSP00000299345.6, ENST00000299345.10
      Conserved Domains (3) summary
      cd11304
      Location:281387
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:87165
      CA; Cadherin repeats
      pfam01049
      Location:653702
      Cadherin_C; Cadherin cytoplasmic region
    2. XM_047433482.1XP_047289438.1  cadherin-8 isoform X2

    3. XM_047433484.1XP_047289440.1  cadherin-8 isoform X3

      UniProtKB/TrEMBL
      J3KTG8, J3QKW5
      Related
      ENSP00000463266.1, ENST00000585315.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      67428496..67824205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379347.1XP_054235322.1  cadherin-8 isoform X1

      UniProtKB/TrEMBL
      J3KRI5
    2. XM_054379348.1XP_054235323.1  cadherin-8 isoform X2

    3. XM_054379349.1XP_054235324.1  cadherin-8 isoform X3

      UniProtKB/TrEMBL
      J3KTG8, J3QKW5