ZNF407

Chr 18AR

zinc finger protein 407

Also known as: SIMHA

NCBI Gene: 55628 ENSG00000215421 UniProt: Q9C0G0 OMIM: 615894

This gene encodes a zinc finger protein that may be involved in transcriptional regulation. Mutations cause SIMHA syndrome, which is inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (pLI >0.99, LOEUF 0.092), indicating it is critical for normal cellular function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

SIMHA syndromeMIM #619557

UniProtShort stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.09

LOEUF· LoF intol.

LOF

Mechanism· predicted