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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZFAND6
zinc finger AN1-type containing 6
Chromosome 15 · 15q25.1
NCBI Gene: 54469Ensembl: ENSG00000086666.21HGNC: HGNC:30164UniProt: Q6FIF0
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of apoptotic processregulation of canonical NF-kappaB signal transductioncellular response to tumor necrosis factortype 2 diabetes mellitusbalanoposthitisatrial fibrillationbreast cancer
✦AI Summary

ZFAND6 (zinc finger AN1-type containing 6) is a multifunctional protein with roles in immune regulation, apoptosis, and peroxisomal protein trafficking. In immune signaling, ZFAND6 modulates TNF-induced NF-κB activation by regulating Lys-48-linked polyubiquitination of TRAF2 and reducing its association with RIPK1, thereby negatively regulating apoptosis [UniProt]. In peroxisomal biology, ZFAND6 functions as a cofactor for Pex6 AAA-ATPase in PTS1-receptor recycling, with its A20 zinc-finger domain preferentially binding cysteine-ubiquitinated Pex5; this activity is essential for peroxisomal protein import and Pex5 stability 1. Beyond these canonical functions, ZFAND6 has emerging disease associations. Genetic variants (rs11634397) show associations with type 2 diabetes risk across multiple populations, with heterozygous genotypes conferring reduced prediabetes susceptibility in Saudi cohorts and homozygous variants showing increased risk in Indian populations 23. CircRNA-ZFAND6 is downregulated in unexplained recurrent spontaneous abortion and promotes trophoblast proliferation while suppressing mitochondrial apoptosis through a ceRNA mechanism involving miR-575 and SOD2 4. Additionally, ZFAND6 expression is reduced in infertile males and involved in alternative splicing regulation during interferon-mediated antiviral responses 56.

Sources cited
1
ZFAND6/AWP1 functions as a cofactor for Pex6 in Pex5 export, binds ubiquitinated Pex5 via its A20 zinc-finger domain, and is essential for PTS1-protein import into peroxisomes and Pex5 stability
PMID: 21980954
2
ZFAND6 variant rs11634397 heterozygous genotype (GA) is associated with reduced prediabetes risk in Saudi population, with AA genotype showing higher C-reactive protein levels
PMID: 36980809
3
ZFAND6 variant rs11634397 is associated with increased type 2 diabetes risk in Indian endogamous population (OR=3.05, p=0.047)
PMID: 37738238
4
CircRNA-ZFAND6 is downregulated in unexplained recurrent spontaneous abortion, promotes trophoblast proliferation and reduces apoptosis via miR-575/SOD2 axis affecting mitochondrial apoptosis
PMID: 40200350
5
ZFAND6 is underexpressed in infertile males and identified as an apoptosis-modulating gene with altered expression patterns affecting reproductive outcomes
PMID: 30897172
6
ZFAND6 undergoes alternative mRNA splicing regulated by SART1 spliceosome factor, contributing to antiviral effects against HCV
PMID: 25481564
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.29Weak
balanoposthitisOpen Targets
0.25Weak
atrial fibrillationOpen Targets
0.18Weak
breast cancerOpen Targets
0.08Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
severe congenital hypochromic anemia with ringed sideroblastsOpen Targets
0.05Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.05Suggestive
sideroblastic anemia 3Open Targets
0.05Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.05Suggestive
Hyperlipoproteinemia type 1Open Targets
0.05Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.04Suggestive
congenital dyserythropoietic anemia type 4Open Targets
0.04Suggestive
Congenital dyserythropoietic anemia type IVOpen Targets
0.04Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.04Suggestive
non-spherocytic hemolytic anemia due to hexokinase deficiencyOpen Targets
0.04Suggestive
pyruvate kinase deficiency of red cellsOpen Targets
0.04Suggestive
anemia (phenotype)Open Targets
0.04Suggestive
anemia, nonspherocytic hemolytic, due to G6PD deficiencyOpen Targets
0.04Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEX1Protein interaction77%PEX6Protein interaction77%ZBED3Protein interaction71%NAA38Shared pathway25%NAA35Shared pathway25%GMEB1Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
98%
Liver
91%
Lung
57%
Brain
45%
Ovary
42%
Gene Interaction Network
Click a node to explore
ZFAND6PEX1PEX6ZBED3NAA38NAA35GMEB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6FIF0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.59 [0.36–1.00]
RankingsWhere ZFAND6 stands among ~20K protein-coding genes
  • #9,823of 20,598
    Most Researched43
  • #9,677of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedZFAND6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic Variants of
PMID: 36980809
Genes (Basel) · 2023
1.00
2
Silencing circRNA-ZFAND6 induces trophoblast apoptosis by activating the mitochondrial pathway through the miR-575/SOD2 axis in unexplained recurrent spontaneous abortion.
PMID: 40200350
BMC Womens Health · 2025
0.90
3
Genetic associations of TMEM154, PRC1 and ZFAND6 loci with type 2 diabetes in an endogamous business community of North India.
PMID: 37738238
PLoS One · 2023
0.80
4
Genetic and epigenetic profiling of the infertile male.
PMID: 30897172
PLoS One · 2019
0.70
5
The spliceosome factor SART1 exerts its anti-HCV action through mRNA splicing.
PMID: 25481564
J Hepatol · 2015
0.60