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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ZNF711
zinc finger protein 711
Chromosome X Β· Xq21.1
NCBI Gene: 7552Ensembl: ENSG00000147180.18HGNC: HGNC:13128UniProt: Q6PK66
43PubMed Papers
21Diseases
0Drugs
16Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptionnucleusprotein bindingzinc ion bindingX-linked non-syndromic intellectual disabilitygenetic disordernon-syndromic X-linked intellectual disabilityX-linked complex neurodevelopmental disorder
✦AI Summary

ZNF711 is an X-linked zinc finger transcription factor essential for brain development and cellular differentiation. As a transcription regulator, ZNF711 binds to promoter sequences of target genes and recruits histone demethylases (PHF8 and JHDM2A) to activate expression of neurodevelopmental genes such as KDM5C 12. ZNF711 also functions as a regulatory switch in cardiac differentiation, directing progenitor commitment toward cardiomyocyte lineages through interaction with retinoic acid signaling 3. In disease contexts, ZNF711 mutations cause X-linked intellectual developmental disorder 97, characterized by mild intellectual disability and autism in approximately half of affected males, with no consistent craniofacial or neurologic findings 45. A ZNF711-specific DNA methylation signature aids clinical diagnosis. Beyond developmental disorders, ZNF711 expression alterations influence cancer chemotherapy resistance: downregulation promotes cisplatin resistance in ovarian cancer by suppressing SLC31A1-mediated drug uptake 6, while overexpression enhances carboplatin sensitivity 7. Paradoxically, ZNF711 overexpression promotes enzalutamide resistance in prostate cancer through AR pathway activation and epigenetic demethylation 8. These findings establish ZNF711 as a critical regulator with context-dependent roles in development, differentiation, and therapeutic response.

Sources cited
1
ZNF711 is a transcription regulator required for brain development that recruits PHF8 histone demethylase to activate neurodevelopmental genes like KDM5C
PMID: 20346720
2
ZNF711 acts as a transcription factor activating KDM5C expression and may compete with ARX transcription factor for this regulation
PMID: 31691806
3
ZNF711 functions as a regulatory switch and safeguard for cardiomyocyte commitment and interacts with retinoic acid in cardiac lineage commitment
PMID: 40020683
4
ZNF711 mutations cause X-linked intellectual disability with mild intellectual disability and autism in half of cases; a ZNF711-specific methylation signature assists clinical diagnosis
PMID: 34992252
5
ZNF711 was identified as one of nine genes implicated in X-linked mental retardation through large-scale X-chromosome resequencing
PMID: 19377476
6
ZNF711 downregulation promotes cisplatin resistance in epithelial ovarian cancer by suppressing SLC31A1 expression through recruitment of JHDM2A histone demethylase
PMID: 34521054
7
ZNF711 overexpression enhances carboplatin sensitivity in ovarian cancer cells; MAFF represses ZNF711 transcription to reduce drug sensitivity
PMID: 38908812
8
ZNF711 overexpression promotes enzalutamide resistance in prostate cancer by upregulating AR expression and suppressing CpG methylation at AR promoter and target genes
PMID: 41656388
9
ZNF711 is a C2H2 zinc finger transcription factor; loss of ZNF711 reduces cell growth and causes widespread transcriptomic changes
PMID: 32406922
Disease Associationsβ“˜21
X-linked non-syndromic intellectual disabilityOpen Targets
0.77Strong
genetic disorderOpen Targets
0.49Moderate
non-syndromic X-linked intellectual disabilityOpen Targets
0.41Moderate
X-linked complex neurodevelopmental disorderOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.27Weak
inherited obesityOpen Targets
0.12Weak
neoplasmOpen Targets
0.08Suggestive
Griscelli diseaseOpen Targets
0.08Suggestive
Griscelli disease type 3Open Targets
0.07Suggestive
Griscelli syndrome type 3Open Targets
0.07Suggestive
uncombable hair syndromeOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
ringed hair diseaseOpen Targets
0.05Suggestive
pili bifurcatiOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.05Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.05Suggestive
ovarian cancerOpen Targets
0.05Suggestive
uncombable hair syndrome 3Open Targets
0.05Suggestive
Griscelli syndrome type 1Open Targets
0.05Suggestive
Intellectual developmental disorder, X-linked 97UniProt
Pathogenic Variants16
NM_001330574.2(ZNF711):c.2217del (p.Lys739fs)Likely pathogenic
Intellectual disability, X-linked 97|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 739
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs)Pathogenic
Intellectual disability, X-linked 97
β˜…β˜…β˜†β˜†2022β†’ Residue 356
NM_001330574.2(ZNF711):c.97dup (p.Thr33fs)Pathogenic
not provided|Intellectual disability, X-linked 97
β˜…β˜…β˜†β˜†2019β†’ Residue 33
NM_001330574.2(ZNF711):c.2218del (p.His740fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 740
NM_001330574.2(ZNF711):c.2217dup (p.His740fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 740
NM_001330574.2(ZNF711):c.1495C>T (p.Arg499Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 499
NM_001330574.2(ZNF711):c.531_532dup (p.Gly178fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 178
NM_001330574.2(ZNF711):c.1199_1203del (p.Gln400fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 400
NM_001330574.2(ZNF711):c.1243del (p.Thr415fs)Likely pathogenic
Intellectual disability, X-linked 97
β˜…β˜†β˜†β˜†2023β†’ Residue 415
NM_001330574.2(ZNF711):c.2265_2266del (p.Cys755_Glu756delinsTer)Pathogenic
Intellectual disability, X-linked 97|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 755
NM_001330574.2(ZNF711):c.1681C>T (p.Arg561Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 561
NM_001330574.2(ZNF711):c.2299C>T (p.Arg767Ter)Likely pathogenic
not provided|Intellectual disability, X-linked 97
β˜…β˜†β˜†β˜†2022β†’ Residue 767
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr)Likely pathogenic
Intellectual disability, X-linked 97|Intellectual disability
β˜…β˜†β˜†β˜†2019β†’ Residue 244
NM_001330574.2(ZNF711):c.1377dup (p.Tyr460fs)Likely pathogenic
Intellectual disability, X-linked 97
β˜…β˜†β˜†β˜†2016β†’ Residue 460
NM_001330574.2(ZNF711):c.2192del (p.Phe731fs)Pathogenic
Intellectual disability, X-linked 97
β˜†β˜†β˜†β˜†2021β†’ Residue 731
NM_001330574.2(ZNF711):c.1711A>T (p.Arg571Ter)Pathogenic
Intellectual disability, X-linked 97
β˜†β˜†β˜†β˜†2009β†’ Residue 571
View on ClinVar β†—
Related Genes
LOC728743Shared pathway100%ATXN7L3BShared pathway100%CAVIN4Shared pathway100%UNCXShared pathway100%DPPA5Shared pathway100%NKAPLShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
25%
Ovary
14%
Heart
10%
Lung
1%
Liver
1%
Gene Interaction Network
Click a node to explore
ZNF711LOC728743ATXN7L3BCAVIN4UNCXDPPA5NKAPL
PROTEIN STRUCTURE
Preparing viewer…
PDB9CJA Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.18Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.07 [0.03–0.18]
RankingsWhere ZNF711 stands among ~20K protein-coding genes
  • #9,824of 20,598
    Most Researched43
  • #2,418of 5,498
    Most Pathogenic Variants16
  • #338of 17,882
    Most Constrained (LOEUF)0.18 Β· top 5%
Genes detectedZNF711
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
PMID: 19377476
Nat Genet Β· 2009
1.00
2
Cardiac differentiation roadmap for analysis of plasticity and balanced lineage commitment.
PMID: 40020683
Stem Cell Reports Β· 2025
0.90
3
MAFF mediates PEITC-induced enhancement of sensitivity to carboplatin in ovarian cancer cell lines via activating ZNF711 transcription in vivo and invitro.
PMID: 38908812
Chem Biol Interact Β· 2024
0.80
4
Clinical Significance of ZNF711 in Human Breast Cancer.
PMID: 32753895
Onco Targets Ther Β· 2020
0.70
5
ZNF711 puts a spell on DNA.
PMID: 35132177
Eur J Hum Genet Β· 2022
0.60