ARL13B (ADP ribosylation factor like GTPase 13B)

2016-10-01  

Identity

HGNC
ARL13B
LOCATION
3q11.1
LOCUSID
200894
ALIAS
ARL2L1,JBTS8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 200894
MIM: 608922
HGNC: 25419
Ensembl: ENSG00000169379

Variants:

dbSNP: 200894
ClinVar: 200894
TCGA: ENSG00000169379
COSMIC: ARL13B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169379ENST00000303097Q3SXY8
ENSG00000169379ENST00000335438F8W837
ENSG00000169379ENST00000394222Q3SXY8
ENSG00000169379ENST00000460371F8WAY0
ENSG00000169379ENST00000471138Q3SXY8
ENSG00000169379ENST00000535334Q3SXY8

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
ARL13B-mediated ciliary trafficking of INPP5EREACTOMER-HSA-5624958

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
186747512008Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.148
202313832010Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans.87
231505592012ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.87
231534922012Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex.77
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
243397922013Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.48
232236332012Arl13b regulates endocytic recycling traffic.30
185545002008Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation.26
279277542017Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.24
251381002015Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.22

Citation

Dessen P

ARL13B (ADP ribosylation factor like GTPase 13B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56277/arl13b