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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZNF22
zinc finger protein 22
Chromosome 10 · 10q11.21
NCBI Gene: 7570Ensembl: ENSG00000165512.6HGNC: HGNC:13012UniProt: P17026
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleoplasmDNA bindingregulation of gene expressionfrozen shoulderprostate carcinomaneurodegenerative diseaseplacenta praevia
✦AI Summary

ZNF22 (zinc finger protein 22), also known as KROX-26, is a DNA-binding transcription factor located at chromosome 10.2 1. The protein binds DNA through the consensus sequence 5'-CAATG-3' and functions as a transcriptional regulator 2. During human fetal development, ZNF22 is expressed in the epithelial component of developing tooth organs during early bud and cap stages, as well as in osteoblasts of craniofacial bone and the developing tongue, suggesting a role in tooth formation 2. The ZNF22 gene maps to chromosome 10.21, a locus associated with permanent tooth agenesis (He-Zhao deficiency), further supporting its involvement in odontogenesis 2. ZNF22 belongs to a cluster of zinc finger genes in the pericentromeric region of chromosome 10 1, a region linked to multiple endocrine neoplasia syndromes 1. In clinical applications, ZNF22 has been used as a polymorphic genetic marker for linkage analysis in families with medullary thyroid cancer and MEN2 syndromes 34. Recent whole exome sequencing identified mutations in ZNF22 as probably pathogenic in a case of HPV-related sinonasal carcinoma 5, though the functional significance remains unclear.

Sources cited
1
ZNF22/KROX-26 is expressed in developing tooth epithelium and craniofacial tissues; gene maps to locus for permanent tooth agenesis
PMID: 14630903
2
ZNF22 located in pericentromeric region of chromosome 10q11.2 as part of zinc finger protein gene cluster
PMID: 1639412
3
ZNF22/Kox15 mapped to chromosome 10q11 as member of zinc finger gene family
PMID: 1946370
4
ZNF22 used as polymorphic marker for linkage analysis in MEN2 families
PMID: 7909818
5
ZNF22 used as genetic marker in linkage analysis for familial medullary thyroid cancer
PMID: 7829628
6
ZNF22 mutations identified as probably pathogenic in HPV-related sinonasal carcinoma
PMID: 39319059
Disease Associationsⓘ20
frozen shoulderOpen Targets
0.30Weak
prostate carcinomaOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.06Suggestive
liver diseaseOpen Targets
0.06Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
intellectual developmental disorder, autosomal dominant 69Open Targets
0.05Suggestive
Phelan-McDermid syndromeOpen Targets
0.05Suggestive
Brunner syndromeOpen Targets
0.05Suggestive
Monoamine oxidase A deficiencyOpen Targets
0.05Suggestive
X-linked retinal dysplasiaOpen Targets
0.04Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.04Suggestive
Stargardt diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LOC728743Shared pathway50%ATXN7L3BShared pathway50%CAVIN4Shared pathway50%UNCXShared pathway50%DPPA5Shared pathway50%NKAPLShared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
97%
Heart
92%
Bone Marrow
89%
Ovary
61%
Lung
56%
Gene Interaction Network
Click a node to explore
ZNF22LOC728743ATXN7L3BCAVIN4UNCXDPPA5NKAPL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P17026
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.53–1.22]
RankingsWhere ZNF22 stands among ~20K protein-coding genes
  • #10,423of 20,598
    Most Researched39
  • #12,793of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedZNF22
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Whole exome sequencing of human papillomavirus-related multiphenotypic sinonasal carcinoma: a case report.
PMID: 39319059
Front Oncol · 2024
1.00
2
The human KROX-26/ZNF22 gene is expressed at sites of tooth formation and maps to the locus for permanent tooth agenesis (He-Zhao deficiency).
PMID: 14630903
J Dent Res · 2003
0.88
3
A cluster of expressed zinc finger protein genes in the pericentromeric region of human chromosome 10.
PMID: 1639412
Genomics · 1992
0.75
4
Characterization and mapping of human genes encoding zinc finger proteins.
PMID: 1946370
Proc Natl Acad Sci U S A · 1991
0.63
5
An SphI polymorphism at the ZNF22 locus.
PMID: 1364011
Hum Mol Genet · 1992
0.50