RASD2

This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]

Description

RASD family member 2

Tissue specificity

Tissue enriched (brain)

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

22 (35540831 - 35553999)

Ensembl ID

ENSG00000100302  (ver. 103.38)

Orthologs

Mouse Rasd2: ENSMUSG00000034472

UniProt

Q96D21

neXtProt

NX_Q96D21

Human splice variants
Mouse splice variants

Protein structure