Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    PCDHA2 protocadherin alpha 2 [ Homo sapiens (human) ]

    Gene ID: 56146, updated on 9-Jun-2013
    Official Symbol
    PCDHA2provided by HGNC
    Official Full Name
    protocadherin alpha 2provided by HGNC
    Primary source
    HGNC:8668
    See related
    Ensembl:ENSG00000204969; HPRD:07320; MIM:606308; Vega:OTTHUMG00000163363
    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
    PCDH-ALPHA2
    Summary
    This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
    Location :
    5q31
    Sequence :
    Chromosome: 5; NC_000005.9 (140174444..140391929)
    See PCDHA2 in Epigenomics

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene vault RNA 1-3 Neighboring gene ZFP14 zinc finger protein pseudogene Neighboring gene protocadherin alpha cluster, complex locus Neighboring gene protocadherin alpha 1 Neighboring gene protocadherin alpha 3 Neighboring gene protocadherin alpha 4 Neighboring gene protocadherin alpha 5 Neighboring gene protocadherin alpha 6 Neighboring gene protocadherin alpha 7 Neighboring gene protocadherin alpha 8 Neighboring gene protocadherin alpha 10 Neighboring gene protocadherin alpha 9 Neighboring gene protocadherin alpha 14 pseudogene Neighboring gene protocadherin alpha 11 Neighboring gene protocadherin alpha 12 Neighboring gene protocadherin alpha 13 Neighboring gene protocadherin alpha subfamily C, 1 Neighboring gene protocadherin alpha subfamily C, 2 Neighboring gene protocadherin alpha constant Neighboring gene protocadherin beta 1 Neighboring gene protocadherin beta cluster Neighboring gene protocadherin beta 2

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    2. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738.
    3. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. Wu C, et al. Proteomics, 2007 Jun. PMID 17474147.
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.
    5. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022.

    See all (13) citations in PubMed

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

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

    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:121086 BioGRID:114625 DDX21    BioGRID  PubMed Co-fractionation 
    BioGRID:121086 BioGRID:108029 DHX15    BioGRID  PubMed Co-fractionation 
    BioGRID:121086 BioGRID:116266 DIDO1    BioGRID  PubMed Co-fractionation 
    BioGRID:121086 BioGRID:110751 HNRNPM    BioGRID  PubMed Co-fractionation 
    BioGRID:121086 BioGRID:109433 HNRNPU    BioGRID  PubMed Co-fractionation 
    BioGRID:121086 BioGRID:119128 HP1BP3    BioGRID  PubMed Co-fractionation 
    BioGRID:121086 BioGRID:116961 NCSTN    BioGRID  PubMed Co-fractionation 
    BioGRID:121086 BioGRID:110847 NFIA    BioGRID  PubMed Co-fractionation 
    BioGRID:121086 BioGRID:110874 NHP2L1    BioGRID  PubMed Co-fractionation 

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    homophilic cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Preferred Names
    protocadherin alpha-2
    Names
    protocadherin alpha-2
    PCDH-alpha-2
    KIAA0345-like 12

    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.

    Genomic

    1. NG_000016.2 Reference

      Range
      60732..278218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018905.2 → NP_061728.1  protocadherin alpha-2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) includes the constant region exons and encodes the longest isoform (1).
      Source sequence(s)
      AF152310
      Consensus CDS
      CCDS54914.1
      UniProtKB/Swiss-Prot
      Q9Y5H9
      Related
      ENSP00000431748, OTTHUMP00000223672, ENST00000526136, OTTHUMT00000372877
      Conserved Domains (1) summary
      cd11304
      Location:246 – 346
      Blast Score: 308
      Cadherin_repeat; Cadherin tandem repeat domain.

    2. NM_031495.1 → NP_113683.1  protocadherin alpha-2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) utilizes the large, first exon then continues into the downstream intron 1 sequence before terminating. This one-exon transcript encodes a shorter isoform (2), compared to isoform 1. This short variant is represented based on data in PMID:10380929.
      Source sequence(s)
      AF152480, BC003126
      UniProtKB/Swiss-Prot
      Q9Y5H9
      Related
      ENSP00000367372, ENST00000378132
      Conserved Domains (1) summary
      cd11304
      Location:246 – 346
      Blast Score: 306
      Cadherin_repeat; Cadherin tandem repeat domain.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p10 Primary Assembly

      Range
      140174444..140391929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      135319158..135536628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018916.1 Alternate CHM1_1.0

      Range
      140451095..140668584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031496.1: Suppressed sequence

      Description
      NM_031496.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01026419.1 (42486..117137) None
    genomic ABBA01026420.1 None
    genomic AC005609.1 AAC34324.1
    genomic AC008468.6 None
    genomic AC010223.6 (50269..146485) None
    genomic AMYH01015661.1 (182494..399983) None
    mRNA AF152310.1 AAD43704.1
    mRNA AF152480.1 AAD43741.1
    mRNA BC003126.1 AAH03126.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5H9.1 GenPept UniProtKB/Swiss-Prot:Q9Y5H9

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content