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    CDH12 cadherin 12, type 2 (N-cadherin 2) [ Homo sapiens ]

    Gene ID: 1010, updated on 11-May-2012
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    Summary

    Official Symbol
    CDH12provided by HGNC
    Official Full Name
    cadherin 12, type 2 (N-cadherin 2)provided by HGNC
    Primary source
    HGNC:1751
    See related
    Ensembl:ENSG00000154162; HPRD:11081; MIM:600562; Vega:OTTHUMG00000090591
    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
    CDHB; FLJ34857
    Summary
    This gene encodes a type II classical cadherin from the cadherin superfamily of 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. 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 appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    5p14.3
    Sequence :
    Chromosome: 5; NC_000005.9 (21750973..22853731, complement)
    See CDH12 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene putative POM121-like protein 1-like Neighboring gene uncharacterized LOC100652982 Neighboring gene glucuronidase, beta pseudogene 1 Neighboring gene heat shock 60kDa protein 1 (chaperonin) pseudogene 1 Neighboring gene pro-melanin-concentrating hormone-like 1, pseudogene Neighboring gene glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 2 Neighboring gene zinc finger CCCH-type containing 14 pseudogene Neighboring gene protein tyrosine phosphatase, non-receptor type 11 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. CDH12 promotes the invasion of salivary adenoid cystic carcinoma. Wang JF, et al. Oncol Rep, 2011 Jul. PMID 21573496.
    2. A Large-scale genetic association study of esophageal adenocarcinoma risk. Liu CY, et al. Carcinogenesis, 2010 Jul. PMID 20453000.
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    4. Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. Hamshere ML, et al. Br J Psychiatry, 2009 Jul. PMID 19567891.
    5. NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. Heard-Costa NL, et al. PLoS Genet, 2009 Jun. PMID 19557197.

    See all (19) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. CDH12 may play an important role in the invasion and metastasis of salivary adenoid cystic carcinoma
      Title: CDH12 promotes the invasion of salivary adenoid cystic carcinoma.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
    4. E2F4, PHACTR3, PRAME family member and CDH12 most probably play important role in non-small-cell lung cancer geneses
      Title: Identification of genes associated with non-small-cell lung cancer promotion and progression.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P55289 Q13634 CDH18    HPRD  PubMed  
    P55289 Q9ULB5 CDH7    HPRD  PubMed  
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    adherens junction organization TAS
    Traceable Author Statement
    more info
    		  
    cell junction assembly TAS
    Traceable Author Statement
    more info
    		  
    cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    		  
    cell-cell junction organization TAS
    Traceable Author Statement
    more info
    		  
    homophilic cell adhesion NAS
    Non-traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane NAS
    Non-traceable Author Statement
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    cadherin-12
    Names
    cadherin-12
    Br-cadherin
    N-cadherin 2
    brain cadherin
    brain-cadherin
    neuronal cadherin 2
    neural type cadherin 2
    cadherin, neural type, 2
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    NCBI Reference Sequences (RefSeq)

    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_004061.3 → NP_004052.2  cadherin-12 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC140132, BC047608, L33477
      Consensus CDS
      CCDS3890.1
      UniProtKB/Swiss-Prot
      P55289
      Related
      ENSP00000371689, OTTHUMP00000115709, ENST00000382254, OTTHUMT00000207139
      Conserved Domains (2) summary
      pfam01049
      Location:638 – 785
      Blast Score: 558
      Cadherin_C; Cadherin cytoplasmic region
      cd11304
      Location:164 – 265
      Blast Score: 268
      Cadherin_repeat; Cadherin tandem repeat domain.

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      21750973..22853731, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      21604798..22819780, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC022139.5 (32461..100488) None
    genomic AC026716.5 (13176..20209) None
    genomic AC034239.5 (998..93380) None
    genomic AC091938.2 (132..70121) None
    genomic AC093263.3 (9922..89724) None
    genomic AC108089.2 (2132..133224) None
    genomic AC109455.2 (79671..152227) None
    genomic AC138854.2 None
    genomic AC138940.3 None
    genomic AC139497.3 (21239..199003) None
    genomic AC140132.3 (164936..185161) None
    genomic AC140171.3 None
    genomic CH471118.1 EAX10734.1
      EAX10735.1
      EAX10736.1
    genomic Z16831.1 None
    mRNA AK092176.1 BAG52492.1
    mRNA AK295123.1 BAH11982.1
    mRNA AK314800.1 BAG37328.1
    mRNA BC047608.1 AAH47608.1
    mRNA L33477.1 AAB48539.1
    mRNA L34057.1 AAA35623.1
    other-genetic EU832103.1 ACE87453.1
    other-genetic EU832197.1 ACE86767.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55289.2 GenPept UniProtKB/Swiss-Prot:P55289
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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