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ARL13B

Chr 3q11.1-q11.2

ARF like GTPase 13B

Aliases:
DKFZp761H079, JBTS8
MANE:
ENST00000394222.8
OMIM: 608922 ↗NCBI: 200894 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Neurological ciliopathies

    BIALLELIC, autosomal or pseudoautosomal

  • Ophthalmological ciliopathies

    BIALLELIC, autosomal or pseudoautosomal

  • Rare multisystem ciliopathy disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Renal ciliopathies

    BIALLELIC, autosomal or pseudoautosomal

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Childhood onset dystonia, chorea or related movement disorder

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Joubert syndrome

    0.79

  • Joubert syndrome 8

    0.75

  • Joubert syndrome and related disorders

    0.48

  • hereditary disease

    0.41

  • Intellectual disability

    0.37

  • Thromboembolism

    0.27

  • alcohol drinking

    0.25

  • clear cell renal carcinoma

    0.25

  • atrial fibrillation

    0.24

  • diabetes mellitus

    0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ADP-ribosylation factor-like protein 13B

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 unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. Plays a role in ciliar trafficking of phosphatidylinositol phosphatase INPP5E in ciliogenesis (PubMed:38219074). May regulate ARF6- and RAB22A-dependent endocytic recycling traffic (PubMed:23223633)

Diseases associated with ARL13B

Curated MONDO disease pages that list ARL13B among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.