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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TSPO2
translocator protein 2
Chromosome 6 · 6p21.1
NCBI Gene: 222642Ensembl: ENSG00000112212.12HGNC: HGNC:21256UniProt: Q5TGU0
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein binding5-aminolevulinic acid transmembrane transporter activityimport across plasma membrane5-aminolevulinic acid import across plasma membraneLeft bundle branch blockesophageal carcinomahypertrophic cardiomyopathydeep vein thrombosis
✦AI Summary

TSPO2 (translocator protein 2) is a cholesterol-binding transmembrane protein specifically expressed in erythroid cells that plays essential roles in erythropoiesis and red blood cell function 1. The protein primarily functions by redistributing intracellular cholesterol from lipid droplets to the endoplasmic reticulum, which is critical for meeting cholesterol demands during erythropoietic differentiation 1. TSPO2 coordinates both maturation and proliferation of terminally differentiating erythroblasts, with deficiency leading to impaired cytokinesis, increased binucleated cells, and compensated anemia 2. Beyond cholesterol metabolism, TSPO2 participates in a supramolecular membrane transport complex with VDAC and ANT that mediates ATP release from red blood cells through VDAC oligomerization 3. The protein also functions as a selective transporter for heme biosynthesis precursors, specifically facilitating 5-aminolevulinic acid import across the plasma membrane, which is essential for protoporphyrin IX accumulation in erythroid cells 4. Unlike its paralog TSPO1, TSPO2 has lost drug ligand-binding properties but retained cholesterol-binding capabilities and shows tissue-specific distribution in hematopoietic cells 1. These diverse functions make TSPO2 crucial for normal erythropoiesis and red blood cell physiology.

Sources cited
1
TSPO2 is a cholesterol-binding protein that redistributes cholesterol from lipid droplets to ER during erythropoiesis
PMID: 19729679
2
TSPO2 coordinates maturation and proliferation of erythroblasts; deficiency causes cytokinesis defects and anemia
PMID: 32358067
3
TSPO2 participates in membrane complex with VDAC and ANT that mediates ATP release through VDAC oligomerization
PMID: 30061676
4
TSPO2 functions as selective transporter for 5-aminolevulinic acid import in erythroid cells
PMID: 31989647
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Left bundle branch blockOpen Targets
0.21Weak
esophageal carcinomaOpen Targets
0.18Weak
hypertrophic cardiomyopathyOpen Targets
0.11Weak
deep vein thrombosisOpen Targets
0.10Weak
dementiaOpen Targets
0.10Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
Pyruvate kinase hyperactivityOpen Targets
0.07Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.06Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.06Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.06Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.06Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
inosine triphosphatase deficiencyOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
erythrocytosis, familial, 3Open Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GYPAProtein interaction78%RELCHShared pathway50%SERAC1Shared pathway33%GRAMD1AShared pathway33%GRAMD1CShared pathway33%HSD17B13Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
2%
Brain
1%
Lung
1%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
TSPO2GYPARELCHSERAC1GRAMD1AGRAMD1CHSD17B13
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5TGU0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.14 [0.80–1.64]
RankingsWhere TSPO2 stands among ~20K protein-coding genes
  • #17,210of 20,598
    Most Researched10
  • #15,846of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedTSPO2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dense red blood cell and oxygen desaturation in sickle-cell disease.
PMID: 27380930
Am J Hematol · 2016
1.00
2
Translocator protein 2 is involved in cholesterol redistribution during erythropoiesis.
PMID: 19729679
J Biol Chem · 2009
0.90
3
Recombinant Overexpression of Mammalian TSPO Isoforms 1 and 2.
PMID: 28755361
Methods Mol Biol · 2017
0.80
4
Cholesterol-binding protein TSPO2 coordinates maturation and proliferation of terminally differentiating erythroblasts.
PMID: 32358067
J Biol Chem · 2020
0.70
5
Human erythrocytes release ATP by a novel pathway involving VDAC oligomerization independent of pannexin-1.
PMID: 30061676
Sci Rep · 2018
0.60