AlphaFold predicted structure
ZNF423 · Q2M1K9
Mean pLDDT
60.6/ 100
Low
1,284 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)46%
- Low(50–70)20%
- Very low(< 50)34%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ZNF423
Chr 16q12.1zinc finger protein 423
- Aliases:
- KIAA0760, OAZ, hOAZ, Ebfaz, Zfp104
- MANE:
- ENST00000563137.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCystic kidney disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalNeurological ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOphthalmological ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalRenal ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalTubulointerstitial kidney disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Joubert syndrome with oculorenal defect
0.53Joubert syndrome
0.51Abnormality of the skeletal system
0.49hypertensive disorder
0.49Joubert syndrome 19
0.49mathematical ability
0.42smoking initiation
0.41Increased blood pressure
0.39essential hypertension
0.39nephronophthisis
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Zinc finger protein 423
Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation