Gene
ZNF423
zinc finger protein 423
- HGNC 16762↗(opens in a new tab)
- Ensembl gene ENSG00000102935↗(opens in a new tab)
- NCBI Gene 23090↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q12.1
- Coordinates
- Chromosome 16: 49,487,524–49,856,112 (GRCh38)
- Exons
- 8 exons across 368.6 kb
- Protein
- 1,292 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- KIAA0760, OAZ, hOAZ, Ebfaz, Zfp104, NPHP14, JBTS19
- MANE Select transcript
- ENST00000563137.7NM_001379286.1
- 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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Get my Genome TestCurated reports relevant to this gene
Joubert Syndrome And Related Disorders
- Joubert Syndrome
A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.
- 1 GenCC submitter rates it definitive or strong
Nephronophthisis and Senior-Løken Syndrome
- NephronophthisisAutosomal recessive
A recessively inherited kidney disease, caused by variants in NPHP1 and other cilia genes, in which progressive tubulointerstitial scarring leads to kidney failure, typically in the first three decades of life.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing allows regular kidney function monitoring, timely planning for dialysis or transplantation, and carrier testing for relatives.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ZNF423 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 8 kb of the gene's 368.6 kb; 3,879 of those bases code for the protein.
Genes linked to the same conditions
- NPHP1nephrocystin 1Shares 2 conditions
- TMEM67transmembrane protein 67Shares 2 conditions
- ADAMTS9ADAM metallopeptidase with thrombospondin type 1 motif 9Shares 1 condition
- AHI1Abelson helper integration site 1Shares 1 condition
- ANKS6ankyrin repeat and sterile alpha motif domain containing 6Shares 1 condition
- ARL13BARF like GTPase 13BShares 1 condition
- ARL3ARF like GTPase 3Shares 1 condition
- ARMC9armadillo repeat containing 9Shares 1 condition
- B9D1B9 domain containing 1Shares 1 condition
- B9D2B9 domain containing 2Shares 1 condition
- CC2D2Acoiled-coil and C2 domain containing 2AShares 1 condition
- CEP104centrosomal protein 104Shares 1 condition
Traits linked to ZNF423
The Human Phenotype Ontology lists these as features of the rare conditions ZNF423 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Breakdown of light-sensitive cells in back of eye
- Birth defect that causes a hole in the innermost layer at the back of the eye
- Blindness
- Cat eye
- Drooping upper eyelid
- Involuntary, rapid, rhythmic eye movements
- Visual impairment
- Cross-eyed
Show 1 more trait
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.
- 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.). ZNF423 gene: zinc finger protein 423. Retrieved 17 October 2026, from https://dantelabs.com/genes/znf423
Dante Labs. ZNF423 gene: zinc finger protein 423 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/znf423
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