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FLASH GENE
Symbol RIN2 contributors: mct/npt/pgu - updated : 27-02-2013
HGNC name Ras and Rab interactor 2
HGNC id 18750
Corresponding disease
MACS macrocephaly, alopecia, cutis laxa, and scoliosis
Location 20p11.23      Physical location : 19.870.209 - 19.983.100
Synonym name
  • RAS inhibitor JC265
  • RAS association domain family 4
  • RAS interaction/interference protein 2
  • RAS association (RalGDS/AF-6) domain containing protein JC265
  • Rab5 GDP/GTP exchange factor
  • RAB5 interacting protein 2
  • Ras interaction/interference protein 2
  • Synonym symbol(s) RASSF4, MACS
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 115.94 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    text structure a Kozak consensus sequence
    MAPPING cloned Y linked N status provisional
    Physical map
    ZNF133 20p11.23-p11.22 zinc finger protein 133 (clone pHZ-13) C20orf12 20p11.23 chromosome 20 open reading frame 12 POLR3F 20p11.23 polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa RBBP9 20p11.2 retinoblastoma binding protein 9 RPS19P1 20p11.23 ribosomal protein S19 pseudogene 1 SEC23B 20pter-p12.3 Sec23 homolog B (S. cerevisiae) LOC388789 20 hypothetical gene supported by AF147354 HARS2 20p11.23 histidyl-tRNA synthetase 2 HSPC072 20p11.23 HSPC072 protein C20orf78 20p11.23 chromosome 20 open reading frame 78 C20orf79 20 chromosome 20 open reading frame 79 SLC24A3 20p13 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 LOC388790 20 LOC388790 RPL12L3 20p11.22 ribosomal protein L12-like 3 RIN2 20p11.22 Ras and Rab interactor 2 NAT5 20p11.22 N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae) CRNKL1 20q12 Crn, crooked neck-like 1 (Drosophila) C20orf26 20p11.23 chromosome 20 open reading frame 26 RPL17P1 20p11.2 ribosomal protein L17 pseudogene 1 INSM1 20p11.21 insulinoma-associated 1 KIAA1272 20p11.22 KIAA1272 protein MRPS11P1 20p11.22 KIAA1272 protein LOC388791 20 LOC388791 C20orf19 20pter-q11.23 chromosome 20 open reading frame 19 RPS15AP1 20p11.22 ribosomal protein S15a pseudogene 1 XRN2 20p11.2-p11.1 5'-3' exoribonuclease 2 LOC391233 20 similar to Homeobox protein Nkx-2.4 (Homeobox protein NKX2.4) (Homeobox protein NK-2 homolog D)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 4259 - 895 - 2006 16423831
    12 - 4525 - 944 - 2006 16423831
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineplacenta    
    Lymphoid/Immunespleen   lowly
    Reproductivefemale systemuterus   
    Respiratorylung    
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Nervousglia
    cell lineage
    cell lines Hela, N-1321 astrocytoma cells
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SH2 domain
  • two proline-rich motifs
  • a Vps9 domain
  • a Ras association (RA) domain
  • mono polymer homomer , tetramer , complex
    HOMOLOGY
    interspecies homolog to murine Rin2
    homolog to rattus LOC311494
    Homologene
    FAMILY
  • RIN (Ras interacting/interference) family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • GTPase activator activity
  • functions as a guanine-nucleotide exchange factor (GEF), required for the activation of the Rab5 protein and/or may be a downstream effector of RAB5
  • connects Ras to Rab5 in the HGF-induced endocytosis of E-cadherin
  • involved in the regulation of endocytic trafficking
  • is a key effector that in endothelial cells interacts with and mediates the pro-adhesive and -angiogenic activity of RRAS
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    text intracellular signaling cascade
    PATHWAY
    metabolism
    signaling
    a component
  • RRas/RIN2/RAB5A complex controls endothelial cell adhesion and morphogenesis via active integrin endocytosis and RAC1 signaling
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts preferentially with GTP-bound form of RAB5
  • interacting with Ras
  • RIN1, RIN2, RIN3 serve as guanine nucleotide exchange factors for RAB5A
  • connects three GTPases, RRas, RAB5A and RAC1, to promote endothelial cell adhesion through the regulation of integrin internalization and RAC1 activation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MACS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS