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FLASH GENE
Symbol ARHGEF28 contributors: mct - updated : 06-09-2017
HGNC name Rho guanine nucleotide exchange factor 28
HGNC id 30322
Location 5q13.2      Physical location : -
Synonym name
  • Rho interacting protein 2
  • p190-RhoGEF
  • rho-guanine nucleotide exchange factor
  • Synonym symbol(s) RGNEF, RIP2, p190RHOGEF, FLJ21817, KIAA1998
    DNA
    TYPE functioning gene
    STRUCTURE 315.84 kb     37 Exon(s)
    MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 6369 - 1731 - 2010 19488899
    36 - 6291 - 1705 - 2010 19488899
    28 - 5247 - 1392 - 2010 19488899
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY storage
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • a Rho guanine-nucleotide-exchange factor (GEF) that binds focal adhesion kinase (PTK2)
  • scaffolding role for ARHGEF28 in PTK2 localization and activation at early adhesions in a PH-domain-dependent but GEF-activity-independent manner
  • with ARHGEF10, ARHGEF2, ARHGEF12, PLEKHG1 are involved in cyclic-stretch-induced perpendicular reorientation of endothelial cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between ARHGEF28 and PTK2, a non-receptor tyrosine kinase that controls migration properties of normal and tumor cells
  • with BLZF1 and ARHGEF28, LURAP1 bind MYO18A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    mutation in familial amyotrophic lateral sclerosis
    Susceptibility to amyotrophic lateral sclerosis
    Variant & Polymorphism insertion/deletion
  • intron 6, + 1 del G (GT>TT) mutation of the ARHGEF28 gene generates a shortened protein that might be related to amyotrophic lateral sclerosis (ALS)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS