Gene: RIN2

Alternate names for this Gene: MACS|RASSF4

Gene 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.23

Description of this Gene: Ras and Rab interactor 2

Type of Gene: protein-coding

rs4813376 in RIN2 gene and Mental disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

rs181853315 in RIN2 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4813376 in RIN2 gene and Psychotic Disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

rs16981145 in RIN2 gene and Serum total cholesterol measurement PMID 22028671 2011 A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol.