ZNF384

Chr 12

zinc finger protein 384

Also known as: CAGH1, CAGH1A, CIZ, ERDA2, NMP4, NP, TNRC1

NCBI Gene: 171017 ENSG00000126746 UniProt: Q8TF68

This gene encodes a C2H2-type zinc finger transcription factor that binds to specific DNA sequences and regulates promoters of extracellular matrix genes including MMP1, MMP3, MMP7, and COL1A1. Mutations in ZNF384 cause developmental disorders with intellectual disability, developmental delay, and various congenital anomalies, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.998, LOEUF 0.228), indicating that functional copies are essential for normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]

ResearchGenerating clinical summary…

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.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.23

LOEUF· LoF intol.

LOF

Mechanism· predicted

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