GHITM

Chr 10

growth hormone inducible transmembrane protein

Also known as: DERP2, HSPC282, MICS1, My021, PTD010, TMBIM5

NCBI Gene: 27069ENSG00000165678UniProt: Q9H3K2

Enables calcium:proton antiporter activity. Involved in calcium export from the mitochondrion; inner mitochondrial membrane organization; and negative regulation of release of cytochrome c from mitochondria. Located in endoplasmic reticulum membrane and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.73
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.012
Z-score 2.34
OE 0.37 (0.20–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.05Z-score
OE missense 0.99 (0.88–1.12)
192 obs / 193.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.20–0.73)
0≤0.351.4
Missense OE?0.99 (0.88–1.12)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 6 / 16.1Missense obs/exp: 192 / 193.8Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GHITM · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients