Version 5.4
Homo sapiens Gene: RIN2
Summary
InnateDB Gene IDBG-57967.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RIN2
Gene Name Ras and Rab interactor 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000132669
Encoded Proteins
IDBP-57969
Ras and Rab interactor 2
IDBP-368356
Ras and Rab interactor 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:19886521-20002457
Strand Forward strand
Band p11.23
Transcripts
ENST00000255006 ENSP00000255006
ENST00000440354 ENSP00000391239
ENST00000459721
ENST00000467569
ENST00000488077
ENST00000465815
ENST00000484638
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000001768
View Gene Order
ENSBTAG00000020382
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
met_pathway
Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
ajdiss_2pathway
Posttranslational regulation of adherens junction stability and dissassembly
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.472270
RefSeq NM_001242581 NM_018993 XM_005260730 XM_005260731 XM_005260732 XM_005260733 XM_006723573 XM_006723574 XM_006723575 XM_006723576 XM_006723577
HUGO
OMIM
CCDS CCDS56182
HPRD 15249
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca