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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GHITM
growth hormone inducible transmembrane protein
Chromosome 10 · 10q23.1
NCBI Gene: 27069Ensembl: ENSG00000165678.23HGNC: HGNC:17281UniProt: Q9H3K2
57PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum membranemitochondrionprotein bindingcalcium:proton antiporter activityliver diseaseceliac diseaseinfluenza A (H1N1)spinal cord injury
✦AI Summary

GHITM (growth hormone inducible transmembrane protein) is a mitochondrial transmembrane protein that plays critical roles in maintaining mitochondrial structure and function. The protein localizes to the inner mitochondrial membrane where it regulates calcium and proton transport, functioning as both a proton-dependent calcium efflux mediator and an electroneutral mitochondrial proton/potassium exchanger 1. GHITM is essential for maintaining mitochondrial tubular network integrity and cristae organization, with knockout cells displaying fragmented mitochondria, vacuolar cristae structure, reduced membrane potential, and impaired respiration 1. The protein belongs to the Bax inhibitory protein-like (TMBIM) family and affects apoptotic susceptibility, with GHITM-deficient cells showing increased sensitivity to apoptotic stimuli 1. GHITM demonstrates ubiquitous expression across mammalian tissues and cell lines, with expression patterns suggesting developmental regulation 2. In cancer contexts, GHITM appears to function as a tumor suppressor in renal cell carcinoma, where its downregulation correlates with poor prognosis and it regulates PD-L1 expression through Notch signaling pathways 3. The protein also shows promise as a stable housekeeping gene for normalization in gene expression studies, particularly in breast cancer research 4.

Sources cited
1
GHITM regulates mitochondrial calcium/proton transport, maintains cristae organization, and affects apoptotic susceptibility
PMID: 32977469
2
GHITM shows ubiquitous expression in mammalian tissues and developmental regulation
PMID: 16412389
3
GHITM functions as tumor suppressor in renal cancer and regulates PD-L1 via Notch signaling
PMID: 38588015
4
GHITM serves as stable housekeeping gene for normalization in gene expression studies
PMID: 40489916
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
liver diseaseOpen Targets
0.30Weak
celiac diseaseOpen Targets
0.24Weak
influenza A (H1N1)Open Targets
0.24Weak
spinal cord injuryOpen Targets
0.24Weak
ovarian neoplasmOpen Targets
0.23Weak
preeclampsiaOpen Targets
0.20Weak
Abnormality of the dentitionOpen Targets
0.18Weak
cataractOpen Targets
0.18Weak
intestinal infectious diseaseOpen Targets
0.17Weak
Dental malocclusionOpen Targets
0.17Weak
benign digestive system neoplasmOpen Targets
0.17Weak
muscular diseaseOpen Targets
0.17Weak
tuberculosisOpen Targets
0.16Weak
secondary malignant neoplasmOpen Targets
0.15Weak
immune system diseaseOpen Targets
0.15Weak
Alzheimer diseaseOpen Targets
0.07Suggestive
sleep apneaOpen Targets
0.06Suggestive
autosomal dominant mitochondrial myopathy with exercise intoleranceOpen Targets
0.05Suggestive
asthmaOpen Targets
0.05Suggestive
allergic rhinitisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TLR4Protein interaction100%LY96Protein interaction91%TMEM45AProtein interaction87%SCHIP1Protein interaction86%MINDY3Protein interaction80%TMEM9Protein interaction78%
Tissue Expression6 tissues
Heart
100%
Brain
54%
Liver
39%
Bone Marrow
21%
Lung
19%
Ovary
14%
Gene Interaction Network
Click a node to explore
GHITMTLR4LY96TMEM45ASCHIP1MINDY3TMEM9
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H3K2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.51Intermediate
Observed/Expected LoF0.31 [0.12–0.96]
RankingsWhere GHITM stands among ~20K protein-coding genes
  • #7,964of 20,598
    Most Researched57
  • #9,132of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedGHITM
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GHITM regulates malignant phenotype and sensitivity to PD-1 blockade of renal cancer cells via Notch signalling.
PMID: 38588015
J Cell Mol Med · 2024
1.00
2
Refining housekeeping genes and demonstrating their potential for clinical and experimental applications.
PMID: 40489916
Comput Biol Med · 2025
0.90
3
Microarray evidence that 8-cell human embryos express some hormone family members including oxytocin.
PMID: 38133877
J Assist Reprod Genet · 2024
0.80
4
Ghitm is an ortholog of the Bombyx mori prothoracic gland-derived receptor (Pgdr) that is ubiquitously expressed in mammalian cells and requires an N-terminal signal sequence for expression.
PMID: 16412389
Biochem Biophys Res Commun · 2006
0.70
5
The growth-hormone inducible transmembrane protein (Ghitm) belongs to the Bax inhibitory protein-like family.
PMID: 18071587
Int J Biol Sci · 2007
0.60