Aliases for RIN2 Gene
External Ids for RIN2 Gene
Previous GeneCards Identifiers for RIN2 Gene
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]
GeneCards Summary for RIN2 Gene
RIN2 (Ras And Rab Interactor 2) is a Protein Coding gene. Diseases associated with RIN2 include Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis and Scoliosis. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include GTPase activator activity and GTPase regulator activity. An important paralog of this gene is RIN3.
UniProtKB/Swiss-Prot for RIN2 Gene
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.