ZNF335

Chr 20AR

zinc finger protein 335

ENSG00000198026 UniProt: Q9H4Z2 OMIM: 610827

The protein is a component of histone methyltransferase complexes that enhances ligand-dependent transcriptional activation by nuclear hormone receptors and plays an important role in neural progenitor cell proliferation and self-renewal through regulation of genes involved in brain development. Mutations cause microcephaly 10, primary, autosomal recessive, which presents with congenital microcephaly. The gene is highly constrained against loss-of-function variation (LOEUF 0.501), reflecting its critical role in neurodevelopment.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters (PubMed:19131338, PubMed:23178126). Enhances ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:12215545, PubMed:18180299, PubMed:19131338). Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST (PubMed:23178126). Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation (PubMed:23178126)

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.501 OMIM phenotype

Clinical Summary— ZNF335

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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