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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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STARD7
StAR related lipid transfer domain containing 7
Chromosome 2 · 2q11.2
NCBI Gene: 56910Ensembl: ENSG00000084090.15HGNC: HGNC:18063UniProt: Q9NQZ5
43PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrial membrane organizationregulation of cellular respirationintermembrane phospholipid transferbenign adult familial myoclonic epilepsypolycystic ovary syndromeneurodegenerative diseaseneoplasm
✦AI Summary

STARD7 (StAR-related lipid transfer domain containing 7) is a phosphatidylcholine-specific lipid transfer protein that transports phosphatidylcholine from the endoplasmic reticulum to mitochondria, facilitating mitochondrial membrane stabilization and respiration function 1. The protein localizes to the cytosol, mitochondrial intermembrane space, and outer mitochondrial membrane 2. STARD7 maintains critical physiological functions across multiple tissues. In intestinal epithelium, STARD7 preserves mitochondrial architecture and aerobic respiration; its loss impairs tight junction protein expression and barrier integrity, increasing susceptibility to inflammatory bowel disease 1. In skeletal muscle, STARD7 is essential for myogenic differentiation by maintaining mitochondrial phosphatidylcholine composition and supporting myomaker/myomerger expression 2. In trophoblast cells, STARD7 expression is synergistically regulated by SF-1 and β-catenin signaling 3. STARD7 expression is elevated in multiple cancer types (22 of 25 tumors analyzed), correlating with poor prognosis 4. In breast cancer, STARD7 loss triggers metabolic reprogramming with altered carnitine and SAM accumulation, causing epigenetic changes that arrest cell cycle progression 5. In colon cancer, SUMO1 degraders suppress STARD7 expression through TCF4 deSUMOylation, inducing ER stress and ROS accumulation 6. STARD7 repeat expansions are also associated with familial adult myoclonus epilepsy 7.

Sources cited
1
STARD7 transports phosphatidylcholine from ER to mitochondria, facilitating mitochondrial stabilization and respiration; its loss impairs intestinal barrier integrity and increases colitis susceptibility
PMID: 39576011
2
STARD7 localizes to cytosol and mitochondrial compartments; is essential for myogenic differentiation by maintaining mitochondrial phosphatidylcholine and supporting myomaker/myomerger expression
PMID: 32071354
3
STARD7 expression is synergistically regulated by SF-1 and β-catenin signaling in trophoblast cells
PMID: 21622533
4
STARD7 is highly expressed in 22 of 25 tumor types analyzed and correlates with poor prognosis and tumor immune microenvironment
PMID: 39390226
5
STARD7 loss in breast cancer triggers metabolic reprogramming with carnitine and SAM accumulation, causing cell cycle arrest through epigenetic modifications
PMID: 40443279
6
In colon cancer, SUMO1 degraders reduce STARD7 through TCF4 deSUMOylation, inducing ER stress and ROS accumulation
PMID: 37191369
7
STARD7 repeat expansions are associated with familial adult myoclonus epilepsy
PMID: 37021642
Disease Associationsⓘ20
benign adult familial myoclonic epilepsyOpen Targets
0.50Moderate
polycystic ovary syndromeOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.26Weak
neoplasmOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.07Suggestive
colitisOpen Targets
0.07Suggestive
plasma fibronectin deficiencyOpen Targets
0.07Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.05Suggestive
immunodeficiency 51Open Targets
0.05Suggestive
primary ciliary dyskinesiaOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
immunodeficiency 15aOpen Targets
0.04Suggestive
Hereditary persistence of alpha-fetoproteinOpen Targets
0.04Suggestive
acne inversa, familial, 3Open Targets
0.04Suggestive
immunodeficiency 53Open Targets
0.04Suggestive
intellectual disability, FRA12A typeOpen Targets
0.04Suggestive
epidermolytic hyperkeratosis 2A, autosomal dominantOpen Targets
0.04Suggestive
congenital lethal erythrodermaOpen Targets
0.04Suggestive
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominantOpen Targets
0.04Suggestive
Pathogenic Variants2
NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]Pathogenic
Epilepsy, familial adult myoclonic, 2
☆☆☆☆2019
NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]Pathogenic
Epilepsy, familial adult myoclonic, 2
☆☆☆☆2019
View on ClinVar ↗
Related Genes
SAMD12Protein interaction76%NAT2Protein interaction72%COQ9Shared pathway25%COQ4Shared pathway25%COQ6Shared pathway25%STARD10Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Brain
77%
Lung
48%
Liver
46%
Bone Marrow
33%
Ovary
25%
Gene Interaction Network
Click a node to explore
STARD7SAMD12NAT2COQ9COQ4COQ6STARD10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NQZ5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.50–0.95]
RankingsWhere STARD7 stands among ~20K protein-coding genes
  • #9,795of 20,598
    Most Researched43
  • #4,460of 5,498
    Most Pathogenic Variants2
  • #8,968of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedSTARD7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
STARD7 maintains intestinal epithelial mitochondria architecture, barrier integrity, and protection from colitis.
PMID: 39576011
JCI Insight · 2024
1.00
2
Loss of STARD7 Triggers Metabolic Reprogramming and Cell Cycle Arrest in Breast Cancer.
PMID: 40443279
Adv Sci (Weinh) · 2025
0.90
3
StarD7 gene expression in trophoblast cells: contribution of SF-1 and Wnt-beta-catenin signaling.
PMID: 21622533
Mol Endocrinol · 2011
0.80
4
The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts.
PMID: 32071354
Sci Rep · 2020
0.70
5
StarD7 knockdown modulates ABCG2 expression, cell migration, proliferation, and differentiation of human choriocarcinoma JEG-3 cells.
PMID: 22952907
PLoS One · 2012
0.60