Property Summary

NCBI Gene PubMed Count 20
PubMed Score 25.25
PubTator Score 17.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
glioblastoma multiforme 1.100 4.8e-17
osteosarcoma 1.387 1.1e-02
posterior fossa group B ependymoma 1.600 3.5e-08
primitive neuroectodermal tumor 1.100 1.0e-02
tuberculosis and treatment for 6 months -1.800 1.0e-03
invasive ductal carcinoma -1.573 1.8e-03
progressive supranuclear palsy -1.200 1.7e-02
ovarian cancer 1.300 1.4e-04
chronic rhinosinusitis -1.063 5.0e-02

 GO Function (1)

 OMIM Phenotype (1)

Protein-protein Interaction (10)

Gene RIF (12)

PMID Text
25138100 Thus our data identify a novel ARL13B variant that causes JS and retinopathy and suggest an extension of the phenotypic spectrum of ARL13B mutations to obesity.
24339792 We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms.
24168557 X-ray crystallography of Arl13B demonstrates involvement of mutations R79Q and R200C in stabilizing intramolecular interactions.
23548655 Arl13b acts as the all-rounder in cilia formation and signaling (Review).
23223633 These results indicate a previously unidentified role for Arl13b in endocytic recycling traffic and suggest a link between Arl13b function and the actin cytoskeleton.
23153492 Expression of Arl13b variants known to cause Joubert syndrome induce defective interneuronal migration, suggesting that defects in cilia-dependent interneuron migration may in part underlie the neurological defects in Joubert syndrome patients.
23150559 findings indicate that ARL13B, INPP5E, PDE6D, and CEP164 form a distinct functional network that is involved in JBTS and NPHP but independent of the ones previously defined by NPHP and MKS proteins
23128241 data reveal a novel but conserved role for the SUMOylation modification of ciliary small GTPase ARL13B in specifically regulating the proper ciliary targeting of various sensory receptors
21068128 Observational study of gene-disease association. (HuGE Navigator)
20231383 data implicate a role for JS-associated Arl13b at ciliary membranes, where it regulates ciliary transmembrane protein localizations and anterograde IFT assembly stability
18674751 ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs
18554500 These findings suggest that N and C domains of Arl13b cooperatively regulate its ciliary localization and that N domain-dependent self-association of Arl13b may be important for its function in cilia biogenesis.

AA Sequence

MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIF      1 - 70
DLGGGIRIRGIWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGE     71 - 140
ADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNERIQKETTEQRA    141 - 210
LEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKM    211 - 280
EKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKKTKK    281 - 350
LRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPN    351 - 420
SDAHDVIS                                                                  421 - 428
//

Text Mined References (21)

PMID Year Title
25138100 2015 Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
24421332 2014 The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly.
24339792 2013 Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
24168557 2014 Structural insights into the small G-protein Arl13B and implications for Joubert syndrome.
24120134 2013 Asymmetric inheritance of centrosome-associated primary cilium membrane directs ciliogenesis after cell division.
23548655 2013 Molecular views of Arf-like small GTPases in cilia and ciliopathies.
23223633 2012 Arl13b regulates endocytic recycling traffic.
23153492 2012 Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex.
23150559 2012 ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
23128241 2012 SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
20643351 2010 Pitchfork regulates primary cilia disassembly and left-right asymmetry.
20231383 2010 Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans.
18674751 2008 Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
18554500 2008 Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17646400 2007 Functional dissection of Rab GTPases involved in primary cilium formation.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15314642 2004 Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.