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FLASH GENE
Symbol PRRG4 contributors: mct - updated : 11-12-2014
HGNC name proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)
HGNC id 30799
Location 11p13      Physical location : 32.851.488 - 32.876.103
Synonym symbol(s) TMG4, PRGP4
DNA
TYPE functioning gene
STRUCTURE 23.86 kb     6 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 5538
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systembreast  highly Homo sapiens
 female systemuteruscervix highly Homo sapiens
 female systemuterus  lowly Homo sapiens
Respiratorylung     Homo sapiens
Urinarykidney   highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a gamma-carboxy-glutamate domain (Gla) domain, extracellular gamma-carboxyglutamic acid (Gla) protein domain
  • nine potential Gla residues (Gla residues are produced after subsequent posttranslational modifications of glutamate by a vitamin K-dependent gamma- carboxylase)
  • membrane-spanning hydrophobic regions
  • cytoplasmic C- terminal regions containing PPXY motifs
  • cytosolic WW binding motifs, essential for these newly found protein-protein interactions, and SH3 binding motifs, with a A PPXY WW domain binding motif present in the PRRG4 sequence at AAs 204207
  • HOMOLOGY
    interspecies ortholog to murine Prrg4
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I membrane protein
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Ca2+
    protein
  • MAGI1, -2, and -3 all contain WW domains and were confirmed as PRRG4-binding proteins
  • PRRG4-initiated signaling events most likely depend on proteins with WW domains
  • YAP1-PRRG4 interaction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism spectrum disorder
    Variant & Polymorphism
    Candidate gene
  • haploinsufficiencies of PRRG4 is a candidate genes for severe developmental delay and autistic features characteristic of WAGR syndrome
  • Marker
    Therapy target
    ANIMAL & CELL MODELS