Homo sapiens Protein: RIN2
Summary
InnateDB Protein IDBP-57969.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RIN2
Protein Name Ras and Rab interactor 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000255006
InnateDB Gene IDBG-57967 (RIN2)
Protein Structure
UniProt Annotation
Function Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP. {ECO:0000269PubMed:11733506}.
Subcellular Localization Cytoplasm {ECO:0000305}.
Disease Associations MACS syndrome (MACS) [MIM:613075]: A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications. {ECO:0000269PubMed:19631308}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Expressed in heart, kidney, lung placenta. Expressed at low level in skeletal muscle, spleen and peripheral blood. {ECO:0000269PubMed:11733506}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005083 small GTPase regulator activity
GO:0005096 GTPase activator activity
GO:0017112 Rab guanyl-nucleotide exchange factor activity
Biological Process
GO:0006897 endocytosis
GO:0007165 signal transduction
GO:0007264 small GTPase mediated signal transduction
GO:0032851 positive regulation of Rab GTPase activity
GO:0050790 regulation of catalytic activity
Cellular Component
GO:0005575 cellular_component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000159 Ras-association
IPR000980 SH2 domain
IPR003123 Vacuolar sorting protein 9
IPR013995 Vacuolar sorting protein 9, subgroup
IPR029071 Ubiquitin-related domain
PFAM PF00788
PF00017
PF14633
PF02204
PRINTS PR00401
PIRSF
SMART SM00314
SM00252
SM00167
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WYP3
PhosphoSite PhosphoSite-Q8WYP3
TrEMBL
UniProt Splice Variant
Entrez Gene 54453
UniGene Hs.472270
RefSeq NP_061866
HUGO HGNC:18750
OMIM 610222
CCDS CCDS56182
HPRD 15249
IMGT
EMBL AB060339 AK094884 AL049538 AL132821 AL136924 M37190
GenPept AAA36553 BAB84317 CAB66858 CAI19340 CAI23572