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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HIGD1B
HIG1 hypoxia inducible domain family member 1B
Chromosome 17 · 17q21.31
NCBI Gene: 51751Ensembl: ENSG00000131097.8HGNC: HGNC:24318UniProt: Q9P298
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial respirasome assemblymitochondrionmembraneAbnormality of the skeletal systemgastric cancerlung adenocarcinomaneoplasm
✦AI Summary

HIGD1B (HIG1 hypoxia inducible domain family member 1B) serves as a specific marker for pericytes, the mural cells that wrap around capillaries and regulate vascular homeostasis 12. The protein functions in mitochondrial respirasome assembly and is localized to mitochondria, playing a critical role in cellular energy metabolism 3. HIGD1B expression identifies distinct pericyte subtypes in pulmonary capillaries, where it helps distinguish pericytes from other stromal cells and enables study of their specialized functions 24. In disease contexts, HIGD1B downregulation is associated with chr17 obstructive pulmonary disease (COPD), correlating with mitochondrial dysfunction and altered immune cell infiltration 3. In gastric cancer, elevated HIGD1B levels predict poor prognosis and function as an oncogene, with its downregulation inducing mitochondria-mediated apoptosis through inactivation of Akt and ERK pathways 5. The gene also shows organ-specific expression patterns, being particularly enriched in lung and heart pericytes, and its expression is conserved between mouse and human tissues 1. HIGD1B represents a valuable biomarker for pericyte identification and a potential therapeutic target in vascular diseases and cancer.

Sources cited
1
HIGD1B serves as a unique gene marker for pericytes and enables identification of distinct pericyte subtypes
PMID: 39806101
2
HIGD1B is identified as a specific pericyte marker in lung and heart tissues, conserved between mouse and human
PMID: 35722109
3
HIGD1B downregulation is associated with COPD and mitochondrial dysfunction
PMID: 40274954
4
HIGD1B functions as an oncogene in gastric cancer and its downregulation induces mitochondria-mediated apoptosis
PMID: 38863387
5
HIGD1B enables improved pericyte identification and reveals novel pericyte subtypes in vascular remodeling
PMID: 41342143
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.12Weak
gastric cancerOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
lung carcinomaOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
pituitary cancerOpen Targets
0.01Suggestive
Pituitary Gland AdenomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
frontotemporal dementiaOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
non-functioning pituitary adenomaOpen Targets
0.00Suggestive
Pallister-Hall syndromeOpen Targets
0.00Suggestive
Pituitary prolactin cell adenomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HIGD1CShared pathway100%HIGD2BShared pathway100%COX4I2Protein interaction72%HIGD1AShared pathway50%HIGD2AShared pathway50%RAB5IFShared pathway50%
Tissue Expression6 tissues
Heart
100%
Lung
49%
Brain
23%
Bone Marrow
8%
Ovary
6%
Liver
1%
Gene Interaction Network
Click a node to explore
HIGD1BHIGD1CHIGD2BCOX4I2HIGD1AHIGD2ARAB5IF
PROTEIN STRUCTURE
Preparing viewer…
PDB2LON · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.56LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.77 [0.40–1.56]
RankingsWhere HIGD1B stands among ~20K protein-coding genes
  • #16,184of 20,598
    Most Researched13
  • #15,491of 17,882
    Most Constrained (LOEUF)1.56
Genes detectedHIGD1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Specialized pericyte subtypes in the pulmonary capillaries.
PMID: 39806101
EMBO J · 2025
1.00
2
Pericytes and Lung Vascular Remodeling.
PMID: 41342143
Arterioscler Thromb Vasc Biol · 2026
0.90
3
Identification and verification of mitochondria-related genes biomarkers associated with immune infiltration for COPD using WGCNA and machine learning algorithms.
PMID: 40274954
Sci Rep · 2025
0.80
4
Decoding the Cell Atlas and Inflammatory Features of Human Intracranial Aneurysm Wall by Single-Cell RNA Sequencing.
PMID: 38390814
J Am Heart Assoc · 2024
0.70
5
Downregulation of HIGD1B induces mitochondria-mediated apoptosis in gastric cancer cells by inactivating Akt and ERK pathways.
PMID: 38863387
Drug Dev Res · 2024
0.60