Gene
ZNF462
zinc finger protein 462
- HGNC 21684↗(opens in a new tab)
- Ensembl gene ENSG00000148143↗(opens in a new tab)
- NCBI Gene 58499↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q31.2
- Coordinates
- Chromosome 9: 106,863,166–107,013,634 (GRCh38)
- Exons
- 13 exons across 150.5 kb
- Protein
- 2,506 amino acids
- Also known as
- DKFZP762N2316, KIAA1803, Zfp462
- MANE Select transcript
- ENST00000277225.10NM_021224.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Syndromic Craniosynostosis
Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.
How ZNF462 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 10.3 kb of the gene's 150.5 kb; 7,521 of those bases code for the protein.
How a genome test reads ZNF462
45
positions in ZNF462 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 150.5 kb of ZNF462, introns included, not only the 10.3 kb of exons.
Genes linked to the same conditions
- CYP26B1cytochrome P450 family 26 subfamily B member 1Shares 1 condition
- ERFETS2 repressor factorShares 1 condition
- FGFR1fibroblast growth factor receptor 1Shares 1 condition
- FGFR2fibroblast growth factor receptor 2Shares 1 condition
- FGFR3fibroblast growth factor receptor 3Shares 1 condition
- IFT122intraflagellar transport 122Shares 1 condition
- IFT43intraflagellar transport 43Shares 1 condition
- IFT52intraflagellar transport 52Shares 1 condition
- IL11RAinterleukin 11 receptor subunit alphaShares 1 condition
- KAT6Alysine acetyltransferase 6AShares 1 condition
- MEGF8multiple EGF like domains 8Shares 1 condition
- MSX2msh homeobox 2Shares 1 condition
Traits linked to ZNF462
The Human Phenotype Ontology lists these as features of the rare conditions ZNF462 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad philtrum
- Downward slanting of the opening between the eyelids
- Exaggerated cupid's bow
- Eye folds
- Highly arched eyebrow
- Nasal tip, upturned
- Prominent metopic ridge
- Prominent nasal tip
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ZNF462 gene: zinc finger protein 462. Retrieved 17 October 2026, from https://dantelabs.com/genes/znf462
Dante Labs. ZNF462 gene: zinc finger protein 462 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/znf462
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