HEBP2

Chr 6

heme binding protein 2

Also known as: C6ORF34B, C6orf34, PP23, SOUL

The protein encoded by this gene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded protein enhances outer and inner mitochondrial membrane permeabilization, especially under conditions of oxidative stress. [provided by RefSeq, May 2016]

ResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.54
LOEUF
Mechanism
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?
1.54LOEUF
pLI 0.000
Z-score 0.45
OE 0.83 (0.471.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.97 (0.821.15)
95 obs / 98.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.471.54)
00.351.4
Missense OE?0.97 (0.821.15)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 7 / 8.4Missense obs/exp: 95 / 98.1Syn Z: 0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HEBP2 · 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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