ARL13B (ARF like GTPase 13B)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
200894
Gene name Gene Name - the full gene name approved by the HGNC.
ARF like GTPase 13B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARL13B
Synonyms (NCBI Gene) Gene synonyms aliases
ARL2L1, JBTS8
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q11.1-q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia f
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs121912606 G>A Pathogenic 5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs121912607 G>A Pathogenic 5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs121912608 C>A,T Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs139997243 C>A Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Missense variant, non coding transcript variant, coding sequence variant
rs373604132 G>C,T Pathogenic Intron variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(133)
miRTarBase ID miRNA Experiments Reference
MIRT020451 hsa-miR-106b-5p Microarray 17242205
MIRT021785 hsa-miR-132-3p Microarray 17612493
MIRT308605 hsa-miR-1277-5p PAR-CLIP 21572407
MIRT549787 hsa-miR-5000-5p PAR-CLIP 21572407
MIRT308604 hsa-miR-1266-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(43)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001947 Process Heart looping IEA
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 20643351, 32296183, 32541000
GO:0005525 Function GTP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608922 25419 ENSG00000169379
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q3SXY8
Protein name ADP-ribosylation factor-like protein 13B (ADP-ribosylation factor-like protein 2-like 1) (ARL2-like protein 1)
Protein function Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze fit; the GTPase activity remains unclea
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00025 Arf 9 → 190 ADP-ribosylation factor family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the developing brain. {ECO:0000269|PubMed:25138100}.
Sequence 
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINL
RQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRI
SGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIK
KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIET
QGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVE
PLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPN
SDAHDVIS
Sequence length 428
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    ARL13B-mediated ciliary trafficking of INPP5E
Aggrephagy
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cerebellar vermis agenesis familial aplasia of the vermis rs1560002959 N/A
Joubert Syndrome Joubert syndrome 8, Joubert syndrome and related disorders rs1560002959, rs752472169, rs121912606, rs121912607, rs121912608, rs863225149, rs764109067, rs373604132 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 18950740, 37910852
Alkaptonuria Associate 28158906
Carcinogenesis Associate 37830570
Central Nervous System Cysts Associate 27562488
Ciliary Motility Disorders Associate 35488810
Ciliopathies Associate 21068128
Genetic Diseases Inborn Associate 31759544
Glioblastoma Associate 37830570
Glioma Associate 37830570