TFCP2

Chr 12

transcription factor CP2

Also known as: LBP1C, LSF, LSF1D, SEF, TFCP2C

This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…
0
Active trials
32
Pubs (1 yr)
P/LP submissions
P/LP missense
0.68
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.000
Z-score 3.04
OE 0.44 (0.290.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.77Z-score
OE missense 0.53 (0.460.60)
143 obs / 271.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.44 (0.290.68)
00.351.4
Missense OE?0.53 (0.460.60)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 15 / 34.2Missense obs/exp: 143 / 271.7Syn Z: 0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TFCP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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