RIN2 gene

Ras and Rab interactor 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP.

From NCBI Gene:

  • Macrocephaly, alopecia, cutis laxa, and scoliosis

From UniProt:

MACS syndrome (MACS): A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications. [MIM:613075]

Cytogenetic Location: 20p11.23, which is the short (p) arm of chromosome 20 at position 11.23

Molecular Location: base pairs 19,757,610 to 20,002,459 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20p11.23, which is the short (p) arm of chromosome 20 at position 11.23
  • MACS
  • RASSF4