ZNF462

Chr 9q31.2

zinc finger protein 462

Aliases:: DKFZP762N2316, KIAA1803, Zfp462
MANE:: ENST00000277225.10

OMIM: 617371 ↗NCBI: 58499 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ZNF462 · Q96JM2

v62025-08-01

Predicted Aligned Error matrix for ZNF462 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

49.7/ 100

Very low

2,506 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)30%
Low(50–70)15%
Very low(< 50)54%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Weiss-Kruszka syndrome
0.80
craniosynostosis
0.55
hereditary disease
0.53
hypothyroidism
0.51
neurodegenerative disease
0.50
intellectual disability, autosomal dominant
0.45
mathematical ability
0.44
atrial fibrillation
0.43
prostate carcinoma
0.42
androgenetic alopecia
0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc finger protein 462

Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965)