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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATF7IP2
activating transcription factor 7 interacting protein 2
Chromosome 16 · 16p13.2-p13.13
NCBI Gene: 80063Ensembl: ENSG00000166669.15HGNC: HGNC:20397UniProt: Q5U623
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coregulator activityregulation of DNA-templated transcriptionnucleustranscription regulator complexneurodegenerative diseasealcohol drinkingTietze syndromecolor vision disorder
✦AI Summary

ATF7IP2 (activating transcription factor 7 interacting protein 2) is a transcriptional coregulator that functions as a recruiter coupling transcription factors to the general transcription apparatus, thereby modulating transcriptional regulation and chr16 formation. ATF7IP2 forms hetero-trimeric complexes with SETDB1 and its paralog ATF7IP 1, where it prevents SETDB1 nuclear export by competing with Crm1 for binding to SETDB1 nuclear export signals. These complexes mediate MBD1-dependent transcriptional repression by recruiting histone-modifying activities that establish H3K9me3 marks and couple DNA methylation to heterochromatin formation 1. ATF7IP2 also functions as a distant enhancer-regulated gene controlled through chr16 interactions at the CLEC16A locus, where allele-specific transcription factor complexes mediate its expression and influence AKT signaling and CD4+ T cell immune responses 2. Regarding disease relevance, ATF7IP2 variants are associated with multiple human conditions: a GWAS meta-analysis identified ATF7IP2 (16p13.2-p13.13) as a susceptibility locus for endometrial cancer 3, a genome-wide association study of neuropathological features linked rs1097915 near GRIN2A/ATF7IP2 to lower parahippocampal Lewy body counts in Lewy body disease 4, variants correlated with visceral leishmaniasis relapse susceptibility 5, and ATF7IP2 emerged as an adverse prognostic factor in stage I lung squamous cell carcinoma 6. Additionally, rs28368872 near ATF7IP2 associated with AMD progression to choroidal neovascularization 7.

Sources cited
1
ATF7IP2 forms hetero-trimeric complexes with SETDB1, prevents Crm1-mediated nuclear export, and fine-tunes H3K9me regulation
PMID: 40339988
2
ATF7IP2 is a distant target gene regulated by CLEC16A enhancer through chromatin interactions affecting AKT signaling and T cell immune responses
PMID: 38191060
3
ATF7IP2 at 16p13.2-p13.13 identified as candidate risk region for endometrial cancer in GWAS meta-analysis
PMID: 40633141
4
GRIN2A/ATF7IP2 rs1097915 associated with lower parahippocampal Lewy body counts in Lewy body disease (discovery series)
PMID: 40091616
5
ATF7IP2 variants correlated with visceral leishmaniasis relapse susceptibility
PMID: 40020829
6
ATF7IP2 identified as adverse prognostic factor in 12-gene signature for stage I lung squamous cell carcinoma
PMID: 34028782
7
rs28368872 near ATF7IP2 associated with progression to choroidal neovascularization in age-related macular degeneration
PMID: 29346644
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
alcohol drinkingOpen Targets
0.33Weak
Tietze syndromeOpen Targets
0.26Weak
color vision disorderOpen Targets
0.21Weak
chronic primary adrenal insufficiencyOpen Targets
0.19Weak
peptic ulcer diseaseOpen Targets
0.19Weak
trauma complicationOpen Targets
0.19Weak
cataractOpen Targets
0.16Weak
eye diseaseOpen Targets
0.16Weak
adolescent idiopathic scoliosisOpen Targets
0.04Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.02Suggestive
Hodgkins lymphomaOpen Targets
0.02Suggestive
lung carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
bacteriemiaOpen Targets
0.01Suggestive
chronic interstitial cystitisOpen Targets
0.00Suggestive
transitional cell carcinoma of kidneyOpen Targets
0.00Suggestive
retinal degenerationOpen Targets
0.00Suggestive
Retinal dystrophyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SETDB1Protein interaction96%ATF7IPProtein interaction96%ARL14EPProtein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
98%
Heart
41%
Ovary
15%
Lung
14%
Brain
7%
Gene Interaction Network
Click a node to explore
ATF7IP2SETDB1ATF7IPARL14EP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5U623
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.47–0.91]
RankingsWhere ATF7IP2 stands among ~20K protein-coding genes
  • #14,922of 20,598
    Most Researched17
  • #8,284of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedATF7IP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GWAS meta-analysis identifies five susceptibility loci for endometrial cancer.
PMID: 40633141
EBioMedicine · 2025
1.00
2
Setdb1 and Atf7IP form a hetero-trimeric complex that blocks Setdb1 nuclear export.
PMID: 40339988
J Biol Chem · 2025
0.90
3
Whole-exome sequencing identifies EP300 variants associated with visceral leishmaniasis relapse.
PMID: 40020829
Int J Biol Macromol · 2025
0.80
4
Genome-wide association study of neuropathological features in Lewy body disease.
PMID: 40091616
Brain · 2025
0.70
5
Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency.
PMID: 38191060
J Allergy Clin Immunol · 2024
0.60