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FLASH GENE
Symbol PCDHGA11 contributors: mct - updated : 11-05-2012
HGNC name protocadherin gamma subfamily A, 11
HGNC id 8698
Location 5q31.3      Physical location : 140.800.536 - 140.892.546
Synonym name
  • protocadherin, cadherin related neuronal receptor, gamma A11, in the gamma cluster
  • Synonym symbol(s) PCDHVGA11, PCDH-GAMMA-A11
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    text component of PCDHG@, subfamily A
    STRUCTURE 92.01 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure the first large exon corresponding to the variable region A11 of the gamma cluster encodes the N terminal extracellular transmembrane domains, the three small last exons corresponding the constant region of the gamma cluster encode the C terminal cytoplasmic domain (identical for each protein in the cluster)
    MAPPING cloned Y linked Y status provisional
    Map cen - PCDHGA1 - PCDHGA2 - PCDHGA3 - PCDHGB1 - PCDHGA4 - PCDHGB2 - PCDHGA5 - PCDHGB3 - PCDHGA6 - PCDHGA7 - PCDHGB4 - PCDHGA8 - PCDHGB5 - PCDHGA9 - PCDHGB6 - PCDHGA10 - PCDHGB7 - PCDHGA11 - PCDHGA12 - PCDHGC3 - PCDHGC4 - PCDHGC5 - qter
    Authors Wu (01)
    Physical map
    SLC25A2 5q31 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member TAF7 5q31 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa PCDHGA1 5q31.3 protocadherin gamma subfamily A, 1 PCDHGA2 5q31.3 protocadherin gamma subfamily A, 2 PCDHGA3 5q31.3 protocadherin gamma subfamily A, 3 PCDHGB1 5q31.3 protocadherin gamma subfamily B, 1 PCDHGA4 5q31.3 protocadherin gamma subfamily A, 4 PCDHGB2 5q31.3 protocadherin gamma subfamily B, 2 PCDHGA5 5q31.3 protocadherin gamma subfamily A, 5 PCDHGB3 5q31.3 protocadherin gamma subfamily B, 3 PCDHGA6 5q31.3 protocadherin gamma subfamily A, 6 PCDHGA7 5q31.3 protocadherin gamma subfamily A, 7 PCDHGB4 5q31.3 protocadherin gamma subfamily B, 4 PCDHGA8 5q31.3 protocadherin gamma subfamily A, 8 PCDHGB5 5q31.3 protocadherin gamma subfamily B, 5 PCDHGA9 5q31.3 protocadherin gamma subfamily A, 9 PCDHGB6 5q31.3 protocadherin gamma subfamily B, 6 PCDHGA10 5q31.3 protocadherin gamma subfamily A, 10 PCDHGB7 5q31.3 protocadherin gamma subfamily B, 7 PCDHGA11 5q31.3 protocadherin gamma subfamily A, 11 PCDHGB8P 5q31.3 protocadherin gamma subfamily B, 8 pseudogene PCDHGA12 5q31.3 protocadherin gamma subfamily A, 12 PCDHGC3 5q31.3 protocadherin gamma subfamily C, 3 PCDHGC4 5q31.3 protocadherin gamma subfamily C, 4 PCDHGC5 5q31.3 protocadherin gamma subfamily C, 5
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4872 98.6 935 - 2001 11230163
    variable region A11 and constant region of gamma cluster
    1 - 3117 88.6 837 - 2001 11230163
    terminating downstream intron 1,putatively secreted
    4 - 4317 78.8 750 - 2001 11230163
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six extracellular cadherin repeats
  • a transmembrane segment encoded by a unique exon
  • a cytoplasmic tail identical for each protein in the cluster
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Pcdhga11 protocadherin gamma subfamily A,11
    intraspecies homolog to cadherin
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
  • protocadherin subfamily
  • CATEGORY adhesion , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    text integral membrane protein type I, localized at the synaptic junction
    basic FUNCTION
  • cadherin-related neuronal receptor, putatively involved specific neuronal connections
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    text playing a putative role in cell-cell interactions critical in the development of the central nervous system, mediating adhesion in synaptic junctions through lack-in process
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • cytoplasmic domain putatively connecting to intermediate filaments
  • cell & other
  • cells expressing the same protocadherin
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in astrocytomas (WHO grades II and III), glioblastomas (WHO grade IV), and glioma cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS