HIVEP2

Chr 6AD

HIVEP zinc finger 2

Also known as: HIV-EP2, MBP-2, MIBP1, MRD43, SHN2, ZAS2, ZNF40B

NCBI Gene: 3097 ENSG00000010818 UniProt: P31629 OMIM: 143054

This gene encodes a large zinc finger transcription factor that regulates gene expression by binding to regulatory regions of cellular and viral genes involved in growth and development. Loss-of-function mutations cause autosomal dominant intellectual developmental disorder. The gene is highly intolerant to loss-of-function variation, consistent with haploinsufficiency as the pathogenic mechanism.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 43MIM #616977

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.08

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — HIVEP2