Symbol: Name: ID: |
RIN2 Ras and Rab interactor 2 GFS:7586 |
Gene name: | RIN2 |
Chromosome: | 20p11.22 |
Previous Symbols: | |
Previous Names: | |
Aliases: | RASSF4 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1921280 | Rat Genome Database ID: | RGD:1305873 |
HGNC ID: | HGNC:18750 | RefSeq IDs: | NM_018993 |
Entrez Gene ID: | 54453 | Ensembl Gene ID: | ENSG00000132669 |
VEGA IDs: | OTTHUMG00000031996 | UniProt ID: | Q8WYP3 |
UCSC ID: | uc002wro.1 | OMIM ID: | 610222 |
Pubmed: | PMID11733506 PMID 1849280 PMID 16423831 | ||
CCDS IDs: |
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].
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.
Products for RIN2 gene
Catalog | Product Name | Application | Company |
GFS:E07586 | Ras and Rab interactor 2; ELISA kit | ELISA | n/a |
GFS:A07586 | Ras and Rab interactor 2; Anti | ANTIBODIES | n/a |
GFS:P07586 | Ras and Rab interactor 2; Protien | Protien | n/a |