TFDP1

Chr 13

transcription factor Dp-1

Also known as: DILC, DP1, DRTF1, Dp-1

NCBI Gene: 7027 ENSG00000198176 UniProt: Q14186 OMIM: 189902

The protein encoded by this gene heterodimerizes with E2F transcription factors to regulate genes involved in cell cycle progression from G1 to S phase and DNA replication. Mutations cause intellectual disability, microcephaly, and growth retardation with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.32), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009]

OMIM 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)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted