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Several gliomas, hepatocellular carcinomas, pancreatic, ovarian, prostate, ovarian and colorectal cancers displayed moderate cytoplasmic positivity. Remaining cancer tissues were in general weakly stained or negative.
GENE INFORMATION
Gene name
RIN2 (HGNC Symbol)
Synonyms
RASSF4
Description
Ras and Rab interactor 2 (HGNC Symbol)
Entrez 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. [provided by RefSeq, Jun 2011]
THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
