RIN2
Ras and Rab interactor 2
Synonyms:
MACS, RASSF4
Species:
Human RIN2 (54453), Mouse Rin2 (74030), Rat Rin2 (311494), domestic guinea pig Rin2 (100725411), naked mole-rat Rin2 (101723666), Thale Cress RIN2 (828626), sheep RIN2 (101123061), cow RIN2 (537459), dog RIN2 (477139), domestic cat RIN2 (101080627)
UniProtKB ID:
Gene ID:
- Human(54453) 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]
- Mouse(74030) Ras and Rab interactor 2
- Rat(311494) Ras and Rab interactor 2
- domestic guinea pig(100725411) Ras and Rab interactor 2
- naked mole-rat(101723666) Ras and Rab interactor 2
- Thale Cress(828626) E3 ubiquitin protein ligase RIN2
- sheep(101123061) Ras and Rab interactor 2
- cow(537459) Ras and Rab interactor 2
- dog(477139) Ras and Rab interactor 2
- domestic cat(101080627) Ras and Rab interactor 2
- chicken(421246) Ras and Rab interactor 2
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