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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZNF214
zinc finger protein 214
Chromosome 11 · 11p15.4
NCBI Gene: 7761Ensembl: ENSG00000149050.11HGNC: HGNC:13006UniProt: B7ZMB1
15PubMed Papers
15Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Swiss-Prot Reviewed
DNA-binding transcription factor activityzinc ion bindingregulation of DNA-templated transcriptionnucleusneurodegenerative diseasefamilial hemolytic anemiainherited hemoglobinopathybreast carcinoma
✦AI Summary

ZNF214 is a zinc finger protein located on chromosome 11 that functions as a DNA-binding transcription factor 1. The gene is predominantly expressed in testicular tissue and plays a role in spermatogenesis and testicular descent 2. ZNF214 exhibits tissue-specific imprinting patterns and exists in close genomic proximity to the related ZNF215 gene, with portions of ZNF215 transcripts derived from the antisense strand of ZNF214 3. Mutations and polymorphisms in ZNF214 are associated with male factor subfertility, particularly in cases of idiopathic impaired spermatogenesis and cryptorchidism 2. Five novel variants were identified in subfertile patients, with at least three inherited maternally 2. Common polymorphisms in ZNF214 contribute as risk factors for isolated cryptorchidism 4. Additionally, CNV-associated reduced transcript expression of ZNF214 has been identified in autism spectrum disorder, suggesting neurodevelopmental involvement 5. Duplications of the 11p15.4 region encompassing ZNF214 cause a novel microduplication syndrome featuring intellectual disability, obesity, and dysmorphic features 1. These findings implicate ZNF214 in reproductive development, spermatogenesis, and neurodevelopmental processes through transcriptional regulation mechanisms.

Sources cited
1
ZNF214 duplication in 11p15.4 region associated with intellectual disability, obesity, overgrowth, and dysmorphic features in a three-generation pedigree
PMID: 22052655
2
ZNF214 predominantly expressed in testis; mutations and polymorphisms associated with male factor subfertility and impaired spermatogenesis
PMID: 12970396
3
ZNF214 mutations and polymorphisms involved in cryptorchidism etiology and gubernacular development
PMID: 20980787
4
Reduced ZNF214 transcript expression in autism cases compared to unaffected transmitting parents, suggesting CNV-related pathogenic mechanism
PMID: 21448237
5
ZNF214 is a zinc-finger gene with antisense transcript overlap with ZNF215; exhibits tissue-specific imprinting and involved in Beckwith-Wiedemann syndrome region
PMID: 10762538
6
Genetic variations in ZNF214 identified in cryptorchid patients used for induced pluripotent stem cell generation
PMID: 23025704
Disease Associationsⓘ15
neurodegenerative diseaseOpen Targets
0.35Weak
familial hemolytic anemiaOpen Targets
0.22Weak
inherited hemoglobinopathyOpen Targets
0.18Weak
breast carcinomaOpen Targets
0.04Suggestive
placental retentionOpen Targets
0.02Suggestive
Beckwith-Wiedemann syndromeOpen Targets
0.02Suggestive
Intellectual disabilityOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
cryptorchidismOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Sjogren syndromeOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BAZ2BProtein interaction81%BAZ2AProtein interaction80%ZNF215Co-mentioned in literature43%
Tissue Expression6 tissues
Ovary
100%
Liver
47%
Brain
31%
Heart
28%
Lung
18%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ZNF214BAZ2BBAZ2AZNF215
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UL59
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.62–1.01]
RankingsWhere ZNF214 stands among ~20K protein-coding genes
  • #15,747of 20,598
    Most Researched15
  • #9,925of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedZNF214
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.
PMID: 22052655
Am J Med Genet A · 2012
1.00
2
Chromosomal region 11p15 is associated with male factor subfertility.
PMID: 12970396
Mol Hum Reprod · 2003
0.86
3
Morphogenetic targets and genetics of undescended testis.
PMID: 20980787
Sex Dev · 2010
0.71
4
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
PMID: 21448237
Eur J Hum Genet · 2011
0.57
5
Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome.
PMID: 10762538
Am J Hum Genet · 2000
0.43