Aliases for RABL2B Gene
External Ids for RABL2B Gene
Previous GeneCards Identifiers for RABL2B Gene
The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
GeneCards Summary for RABL2B Gene
RABL2B (RAB, Member Of RAS Oncogene Family Like 2B) is a Protein Coding gene. Diseases associated with RABL2B include Oligoasthenoteratozoospermia and Chromosome 16P13.3 Duplication Syndrome. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RABL2A.
UniProtKB/Swiss-Prot Summary for RABL2B Gene
Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability (PubMed:28625565). Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259).