HEMGN

Chr 9

hemogen

Also known as: CT155, EDAG, EDAG-1, NDR

The protein regulates hematopoietic cell proliferation and differentiation, blocking megakaryocytic differentiation when overexpressed and potentially preventing apoptosis through NF-kB activation. The extremely low pLI score and elevated LOEUF indicate this gene is tolerant to loss-of-function variants, and no established human disease associations have been identified for HEMGN mutations.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.22
Clinical SummaryHEMGN
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.22LOEUF
pLI 0.000
Z-score 0.81
OE 0.80 (0.541.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.24Z-score
OE missense 0.96 (0.861.07)
229 obs / 239.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.80 (0.541.22)
00.351.4
Missense OE0.96 (0.861.07)
00.61.4
Synonymous OE1.06
01.21.6
LoF obs/exp: 16 / 19.9Missense obs/exp: 229 / 239.3Syn Z: -0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HEMGN · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
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