HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ANKRD27
ankyrin repeat domain 27
Chromosome 19 · 19q13.11
NCBI Gene: 84079Ensembl: ENSG00000105186.17HGNC: HGNC:25310UniProt: Q96NW4
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
early endosome to late endosome transportguanyl-nucleotide exchange factor activityprotein bindingsmall GTPase bindingprolonged electroretinal response suppression 2bradyopsiaeosinophilic esophagitisdiabetes mellitus
✦AI Summary

ANKRD27 (ankyrin repeat domain 27), also known as VARP (VPS9-ankyrin-repeat protein), is a multifunctional regulator of endosomal trafficking 1. As a guanine exchange factor (GEF), ANKRD27 activates small GTPases Rab21, Rab32, and Rab38 to coordinate endosome dynamics and vesicular transport 1. ANKRD27 interacts with the retromer complex through Zn-fingernail domains that bind VPS29, enabling endosome-to-plasma-membrane recycling of cargo proteins including GLUT1 2. The protein regulates VAMP7 function by trapping it in an inactive conformation, thereby controlling SNARE-mediated membrane fusion events 1. In melanocytes, ANKRD27 coordinates trafficking of melanogenic enzymes (TYR, TYRP1, DCT/TYRP2) to melanosomes through cooperation with Rab32, Rab38, and VAMP7 3. ANKRD27 also promotes neurite outgrowth, requiring its GEF activity toward Rab21 and VAMP7 1. Disease relevance includes association with eosinophilic esophagitis, a chr19 allergic inflammatory disorder of the esophagus 4, and potential susceptibility to SARS-CoV-2 infection 5. The protein's pleiotropic functions in membrane trafficking make it a candidate therapeutic target for inflammatory and infectious diseases.

Sources cited
1
ANKRD27/VARP functions as a GEF for Rab21, Rab32, and Rab38; interacts with retromer complex and VAMP7; regulates melanogenic enzyme trafficking and neurite outgrowth
PMID: 27103185
2
ANKRD27 is a genome-wide significant locus associated with eosinophilic esophagitis risk and regulates trafficking of melanogenic enzymes
PMID: 25407941
3
ANKRD27 contains Zn-fingernail domains that bind VPS29 of the retromer complex; mutations abolishing this interaction inhibit endosome-to-plasma-membrane trafficking
PMID: 33024112
4
ANKRD27 genetic variants show potential correlation with SARS-CoV-2 infection susceptibility in Chinese population
PMID: 35927536
5
ANKRD27 interacts with retromer and functions in endosome-to-melanosome transport of melanogenic enzymes tyrosinase and TYRP1
PMID: 25278552
Disease Associationsⓘ20
prolonged electroretinal response suppression 2Open Targets
0.46Moderate
bradyopsiaOpen Targets
0.42Moderate
eosinophilic esophagitisOpen Targets
0.20Weak
diabetes mellitusOpen Targets
0.15Weak
type 2 diabetes mellitusOpen Targets
0.15Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
Absent tibia - polydactylyOpen Targets
0.06Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
AcheiropodiaOpen Targets
0.05Suggestive
X-linked retinal dysplasiaOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.05Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.05Suggestive
Hypoplastic tibiae - postaxial polydactylyOpen Targets
0.05Suggestive
Blount diseaseOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
tibial hemimeliaOpen Targets
0.05Suggestive
asthmaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VAMP7Protein interaction99%RAB21Protein interaction90%RAB32Protein interaction90%RAB38Protein interaction90%GOLGA4Protein interaction87%VPS29Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Lung
77%
Heart
71%
Bone Marrow
63%
Ovary
52%
Liver
28%
Gene Interaction Network
Click a node to explore
ANKRD27VAMP7RAB21RAB32RAB38GOLGA4VPS29
PROTEIN STRUCTURE
Preparing viewer…
PDB4B93 · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.69–0.96]
RankingsWhere ANKRD27 stands among ~20K protein-coding genes
  • #8,766of 20,598
    Most Researched50
  • #9,133of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedANKRD27
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Meta-Analysis of Heifer Traits Identified Reproductive Pathways in
PMID: 34069992
Genes (Basel) · 2021
1.00
2
Genome-wide association study of SARS-CoV-2 infection in Chinese population.
PMID: 35927536
Eur J Clin Microbiol Infect Dis · 2022
0.90
3
Multiple Roles of VARP in Endosomal Trafficking: Rabs, Retromer Components and R-SNARE VAMP7 Meet on VARP.
PMID: 27103185
Traffic · 2016
0.80
4
The genetic basis of eosinophilic esophagitis.
PMID: 26552769
Best Pract Res Clin Gastroenterol · 2015
0.70
5
GWAS identifies four novel eosinophilic esophagitis loci.
PMID: 25407941
Nat Commun · 2014
0.60