ARL2BP gene

ADP ribosylation factor like GTPase 2 binding protein

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

From NCBI Gene:

ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]

From UniProt:

Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2.

From NCBI Gene:

  • Retinitis pigmentosa with or without situs inversus

From UniProt:

Retinitis pigmentosa with or without situs inversus (RPSI): A disorder characterized by variable association of retinitis pigmentosa with situs inversus. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition. [MIM:615434]

Cytogenetic Location: 16q13, which is the long (q) arm of chromosome 16 at position 13

Molecular Location: base pairs 57,245,126 to 57,253,635 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q13, which is the long (q) arm of chromosome 16 at position 13
  • BART
  • BART1
  • RP66