RIN2

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]

Description

Ras and Rab interactor 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoli, Golgi apparatus, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

20:p11.23 (19757606 - 20002457)

Ensembl ID

ENSG00000132669  (ver. 103.38)

Orthologs

Mouse Rin2: ENSMUSG00000001768

UniProt

Q8WYP3

neXtProt

NX_Q8WYP3

Human splice variants
Mouse splice variants