HSF2BP

Chr 21AR

heat shock transcription factor 2 binding protein

Also known as: MEILB2, POF19

HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Premature ovarian failure 19MIM #619245
AR
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.81
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.81LOEUF
pLI 0.000
Z-score -1.14
OE 1.31 (0.921.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.17Z-score
OE missense 1.03 (0.921.17)
197 obs / 190.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.31 (0.921.81)
00.351.4
Missense OE?1.03 (0.921.17)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 21 / 16.1Missense obs/exp: 197 / 190.3Syn Z: 0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HSF2BP · 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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