Rin2 gene

The gene RIN2 (Ras And Rab Interactor 2), located on chromosome 20p11.23, is involved in endosome transport (Aslanger AD et al. 2014). RIN2 encodes for the RAS Interaction/Interference Protein 2

RIN2 (Ras And Rab Interactor 2) is a protein-coding gene. The protein encoded by the RIN2 gene, a GTPase, binds the GTP-bound form of the RAB5 protein and acts as a guanine nucleotide exchange factor for RAB5. The encoded protein is mainly tetramerically organized in the cytoplasm and otherwise does not bind other members of the RAB family (Saito K et al. 2002).

Mutations in this gene cause macrocephaly, alopecia cutis laxa and scoliosis (MACS) syndrome, a form of hereditary cutis laxa group(RIN2 syndrome). Alternative splicing results in multiple transcript variants (Basel-Vanagaite L et al. 2009).

1. Basel-Vanagaite L et al (2009) RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.Am J Hum Genet 85: 254-263
2. Kameli R et al (2020) Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. Eur J Med Genet 63:103629.
3. Saito K et al (2002) A novel binding protein composed of homophilic tetramer exhibits unique properties for the small GTPase Rab5. The Journal of biological chemistry 277:3412-3418