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 (macrocephaly alopecia cutis laxa and scoliosis), a form of the hereditary cutis laxa group(RIN2 syndrome). Alternative splicing leads to several transcript variants (Basel-Vanagaite L et al. 2009).

Furthermore, mutations in the BS7 and RIN2 genes cause the coincident occurrence of Bardet-Biedl syndrome and RIN2 synd rome respectively (Shaukat M et al. 2020).

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. Kawasaki T et al. (2005) A duplicated pair of Arabidopsis RING-finger E3 ligases contribute to the RPM1- and RPS2-mediated hypersensitive response. Plant J 44:258-270.
4. Shaukat M et al. (2020) RIN2 and BBS7 variants as cause of a coincidental syndrome. Eur J Med Genet 63:103755.
5. 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