TFDP2

Chr 3

transcription factor Dp-2

Also known as: DP2

NCBI Gene: 7029 ENSG00000114126 UniProt: Q14188 OMIM: 602160

The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

OMIM Research

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.18LOEUF

pLI 0.999

Z-score 4.57

OE 0.04 (0.01–0.18)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

1.69Z-score

OE missense 0.68 (0.60–0.78)

156 obs / 227.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.04 (0.01–0.18)

0≤0.351.4

Missense OE?0.68 (0.60–0.78)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 1 / 26.3Missense obs/exp: 156 / 227.9Syn Z: 1.38

Background carrier burden — how many people carry a rare variant somewhere in TFDP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

469 rare PASS variants

Rare truncating (LoF)

1 in 1,500

55 rare PASS variants

Rare synonymous (reference)

1 in 430

219 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TFDP2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 2,100
South Asian	~43k	1 in 110	1 in 5,200
Remaining (unassigned)	~30k	1 in 110	1 in 920
European (Finnish)	~27k	1 in 550	none seen
Admixed American	~22k	1 in 100	1 in 2,200
African / African American	~21k	1 in 200	1 in 740
East Asian	~20k	1 in 250	≈ 1 in 4,700
Ashkenazi Jewish	~13k	1 in 560	none seen
Middle Eastern	~2,884	1 in 220	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 9 of 12 coding exons well covered in gnomAD exomes; exons 2, 3, 6 marginal. Genomes: all 12.? see exons ↓