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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ARL14EP
ARF like GTPase 14 effector protein
Chromosome 11 · 11p14.1
NCBI Gene: 120534Ensembl: ENSG00000152219.7HGNC: HGNC:26798UniProt: Q8N8R7
25PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolcytoplasmendometriosisMenorrhagiauterine fibroidpolycystic ovary syndrome
✦AI Summary

ARL14EP (ARF like GTPase 14 effector protein) is a regulatory protein that functions in multiple cellular processes including vesicle trafficking, chr11 remodeling, and gene expression regulation. The protein interacts with ARL14 and MYO1E to connect MHC class II-containing cytoplasmic vesicles to the actin network, controlling vesicle movement along the actin cytoskeleton in dendritic cells [UniProt]. In epigenetic regulation, ARL14EP works with MET-2/SETDB1 and LIN-65/ATF7IP to prevent monoallelic expression by antagonizing histone methylation pathways 1. The gene shows significant disease relevance, particularly in polycystic ovary syndrome (PCOS), where increased ARL14EP expression is strongly associated with PCOS risk across multiple cohorts 2. ARL14EP expression is dynamically regulated during fetal development in gonadal, metabolic, and brain tissues, suggesting developmental roles in multiple organ systems 3. The gene is also associated with circadian light sensitivity, where variants enhance the effect of daylight exposure on chr11 4. Additionally, ARL14EP deletion may worsen lens abnormalities in WAGR syndrome patients 5. These findings indicate ARL14EP functions as a multifunctional regulatory protein with roles in cellular trafficking, chr11 regulation, and developmental processes across multiple tissues.

Sources cited
1
ARL14EP works with MET-2/SETDB1 and LIN-65/ATF7IP to prevent monoallelic expression by antagonizing histone methylation
PMID: 41315265
2
Increased ARL14EP expression is significantly associated with PCOS risk in discovery and replication cohorts
PMID: 36720993
3
ARL14EP is dynamically expressed in human fetal gonadal, metabolic and brain tissues during development
PMID: 37223019
4
ARL14EP variants enhance the morningness effect of daytime light exposure on chronotype
PMID: 36519390
5
ARL14EP deletion may worsen lens abnormalities in WAGR syndrome patients
PMID: 36011342
Disease Associationsⓘ20
endometriosisOpen Targets
0.52Moderate
MenorrhagiaOpen Targets
0.48Moderate
uterine fibroidOpen Targets
0.47Moderate
polycystic ovary syndromeOpen Targets
0.43Moderate
Uterine leiomyomaOpen Targets
0.41Moderate
Ovarian cystOpen Targets
0.39Weak
female reproductive system diseaseOpen Targets
0.39Weak
obesityOpen Targets
0.36Weak
Menstrual disorderOpen Targets
0.34Weak
positive regulation of ovulationOpen Targets
0.33Weak
overnutritionOpen Targets
0.32Weak
Irregular menstruationOpen Targets
0.32Weak
bilateral oophorectomyOpen Targets
0.31Weak
OligomenorrheaOpen Targets
0.30Weak
PolymenorrheaOpen Targets
0.30Weak
adenomyosisOpen Targets
0.30Weak
leiomyomaOpen Targets
0.29Weak
prostatitisOpen Targets
0.26Weak
hysterectomyOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
Pathogenic Variants1
NM_152316.3(ARL14EP):c.653G>A (p.Gly218Glu)Likely pathogenic
Global developmental delay;Abnormal facial shape;Truncal obesity;Microcephaly|not provided
★☆☆☆→ Residue 218
View on ClinVar ↗
Related Genes
SETDB2Protein interaction95%SETDB1Protein interaction81%ATF7IPProtein interaction81%ATF7IP2Protein interaction81%ARL14Protein interaction80%
Tissue Expression6 tissues
Heart
100%
Brain
52%
Ovary
46%
Liver
41%
Bone Marrow
37%
Lung
28%
Gene Interaction Network
Click a node to explore
ARL14EPSETDB2SETDB1ATF7IPATF7IP2ARL14
PROTEIN STRUCTURE
Preparing viewer…
PDB8HFP · 1.82 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.51 [0.33–0.82]
RankingsWhere ARL14EP stands among ~20K protein-coding genes
  • #12,941of 20,598
    Most Researched25
  • #5,309of 5,498
    Most Pathogenic Variants1
  • #6,987of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedARL14EP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome.
PMID: 36720993
J Hum Genet · 2023
1.00
2
Genome-wide gene by environment study of time spent in daylight and chronotype identifies emerging genetic architecture underlying light sensitivity.
PMID: 36519390
Sleep · 2023
0.90
3
Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases.
PMID: 36011342
Genes (Basel) · 2022
0.80
4
Maternal histone methyltransferases antagonistically regulate autosomal random monoallelic expression (aRMAE) in C. elegans.
PMID: 41315265
Nat Commun · 2025
0.70
5
Candidate genes for polycystic ovary syndrome are regulated by TGFβ in the bovine foetal ovary.
PMID: 35413103
Hum Reprod · 2022
0.60