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ARL14EP

Chr 11p14.1

ARF like GTPase 14 effector protein

Aliases:
FLJ38968, ARF7EP
MANE:
ENST00000282032.4
OMIM: 612295 ↗NCBI: 120534 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • endometriosis

    0.50

  • Menorrhagia

    0.46

  • uterine corpus leiomyoma

    0.45

  • polycystic ovary syndrome

    0.43

  • Uterine leiomyoma

    0.40

  • female reproductive system disorder

    0.37

  • Ovarian cyst

    0.35

  • Menstrual disorder

    0.35

  • obesity disorder

    0.32

  • positive regulation of ovulation

    0.31

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

Protein function (UniProt)

ARL14 effector protein

Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells

Diseases associated with ARL14EP

Curated MONDO disease pages that list ARL14EP 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.