# TSPO2

> Gene · canonical: https://sugi.bio/atlas/gene/TSPO2/
> Atlas v1.12.2 · generated 2026-10-13T13:32:47+00:00

## Summary

**TSPO2** (translocator protein 2, HGNC:21256) is a protein-coding gene on chromosome 6p21.1, encoding **Translocator protein 2** (Q5TGU0). Cholesterol-binding protein involved in the redistribution of cholesterol from lipid droplets to the endoplasmic reticulum.

Enables 5-aminolevulinic acid transmembrane transporter activity. Involved in 5-aminolevulinic acid import across plasma membrane. Located in plasma membrane.

*Source: [NCBI Gene 222642](https://www.ncbi.nlm.nih.gov/gene/222642) — automated summary from GO annotations (Alliance of Genome Resources).*

**At a glance**

- **GWAS associations:** 2
- **Clinical variants (ClinVar):** 20 total
- **GTEx eGene:** eQTL in 4 tissues, sQTL in 1 (q < 0.05)
- **Constraint (gnomAD):** pLI 0.00 (LoF-tolerant), LOEUF 1.64 (unconstrained)
- **MANE Select transcript:** `NM_001010873`




## Identifiers

### Gene identifiers

| Field | Value |
| --- | --- |
| HGNC ID | HGNC:21256 |
| Approved symbol | TSPO2 |
| Name | translocator protein 2 |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ34B21.2 |
| Ensembl gene | ENSG00000112212 |
| Ensembl biotype | protein_coding |
| OMIM | 619409 |
| Entrez | 222642 |

## Gene structure

### Transcript identifiers

**Ensembl transcripts: 10** — 10 protein_coding

**MANE Select:** `ENST00000373161`

**Transcript support level (Ensembl TSL; 1 = fully mRNA-supported):** TSL 1: 3

`ENST00000373161`, `ENST00000373158`, `ENST00000470917`, `ENST00000984170`, `ENST00001103123`, `ENST00001103124`, `ENST00001103125`, `ENST00001103126`, `ENST00001103127`, `ENST00001138256`

**RefSeq mRNA: 2** — MANE Select: `NM_001010873`
`NM_001010873`, `NM_001159726`

**CCDS:** `CCDS34444`

#### Canonical transcript exons

`ENST00000373161` — 4 exons

| Exon | Start | End |
| --- | --- | --- |
| ENSE00000750657 | 41043557 | 41043698 |
| ENSE00001459681 | 41042966 | 41043158 |
| ENSE00001459682 | 41042467 | 41042778 |
| ENSE00001820779 | 41043940 | 41044337 |

### Expression profiles

**Bgee:** expression breadth **ubiquitous**, 140 present calls, max score 87.22.

**FANTOM5 (CAGE):** breadth **tissue_specific**, TPM avg 0.0525 / max 43.5445, expressed in 4 samples.

**Highest expression (Bgee):** trabecular bone tissue, bone marrow, bone marrow cell, blood, Brodmann (1909) area 10.

#### Genetic regulation across tissues (GTEx eQTL / sQTL)

TSPO2 is an **eGene** in GTEx v10 — its expression is genetically regulated (eQTL) in **4** tissues and its splicing (sQTL) in **1** (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant's alternative allele.

5 significant tissue × QTL associations:

| Tissue | QTL | q-value | Slope | Lead variant |
| --- | --- | --- | --- | --- |
| Testis | eqtl | 8.4e-11 | -0.47 | 6:41037763:T:C |
| Esophagus Mucosa | eqtl | 2.2e-02 | -0.71 | 6:40896019:T:C |
| Esophagus Gastroesophageal Junction | eqtl | 2.5e-02 | +0.53 | 6:40374375:A:G |
| Minor Salivary Gland | eqtl | 3.0e-02 | -0.42 | 6:40370560:T:C |
| Whole Blood | sqtl | 3.3e-02 | -1.11 | 6:40846973:T:C |

#### FANTOM5 promoters

2 alternative TSS:

| Promoter ID | TPM avg | Samples expressed |
| --- | --- | --- |
| 67722 | 0.0325 | 4 |
| 67723 | 0.0199 | 3 |

#### Top tissues by expression

showing 100 of 280 tissues by Bgee expression score (0-100, higher = more expressed):

| Tissue | Anatomy ID | Expression score | Quality |
| --- | --- | --- | --- |
| trabecular bone tissue | UBERON:0002483 | 87.22 | gold quality |
| bone marrow | UBERON:0002371 | 85.12 | gold quality |
| bone marrow cell | CL:0002092 | 73.64 | gold quality |
| blood | UBERON:0000178 | 69.15 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 68.66 | gold quality |
| mononuclear cell | CL:0000842 | 65.48 | gold quality |
| monocyte | CL:0000576 | 65.46 | gold quality |
| leukocyte | CL:0000738 | 63.01 | gold quality |
| sural nerve | UBERON:0015488 | 61.26 | gold quality |
| cerebellar vermis | UBERON:0004720 | 58.83 | gold quality |
| jejunal mucosa | UBERON:0000399 | 58.66 | silver quality |
| gall bladder | UBERON:0002110 | 57.79 | gold quality |
| duodenum | UBERON:0002114 | 57.71 | gold quality |
| endometrium epithelium | UBERON:0004811 | 57.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 56.23 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 55.98 | gold quality |
| right lobe of liver | UBERON:0001114 | 55.66 | gold quality |
| liver | UBERON:0002107 | 55.52 | gold quality |
| upper leg skin | UBERON:0004262 | 55.41 | silver quality |
| body of stomach | UBERON:0001161 | 55.40 | gold quality |
| small intestine | UBERON:0002108 | 54.83 | gold quality |
| thymus | UBERON:0002370 | 54.67 | silver quality |
| small intestine Peyer's patch | UBERON:0003454 | 54.62 | gold quality |
| stomach | UBERON:0000945 | 53.63 | gold quality |
| quadriceps femoris | UBERON:0001377 | 53.47 | gold quality |
| metanephros | UBERON:0000081 | 52.91 | gold quality |
| paraflocculus | UBERON:0005351 | 52.73 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 52.66 | gold quality |
| mucosa of stomach | UBERON:0001199 | 52.54 | gold quality |
| vastus lateralis | UBERON:0001379 | 52.42 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 52.30 | gold quality |
| spleen | UBERON:0002106 | 52.17 | gold quality |
| metanephros cortex | UBERON:0010533 | 52.17 | gold quality |
| pancreas | UBERON:0001264 | 52.14 | gold quality |
| oocyte | CL:0000023 | 51.87 | gold quality |
| tibia | UBERON:0000979 | 51.66 | gold quality |
| pancreatic ductal cell | CL:0002079 | 51.33 | silver quality |
| kidney | UBERON:0002113 | 51.33 | gold quality |
| deltoid | UBERON:0001476 | 51.04 | gold quality |
| squamous epithelium | UBERON:0006914 | 50.71 | gold quality |
| body of pancreas | UBERON:0001150 | 50.51 | gold quality |
| frontal pole | UBERON:0002795 | 50.41 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 50.30 | gold quality |
| muscle tissue | UBERON:0002385 | 49.74 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 49.70 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 49.53 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.49 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 49.27 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| hair follicle | UBERON:0002073 | 49.18 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 49.13 | gold quality |
| placenta | UBERON:0001987 | 49.04 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 48.94 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| cortex of kidney | UBERON:0001225 | 48.85 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| skin of leg | UBERON:0001511 | 48.83 | gold quality |
| right lung | UBERON:0002167 | 48.74 | gold quality |
| nephron tubule | UBERON:0001231 | 48.62 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 48.55 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 48.51 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 48.50 | gold quality |
| oviduct epithelium | UBERON:0004804 | 48.48 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 48.24 | gold quality |
| upper arm skin | UBERON:0004263 | 48.06 | gold quality |
| cervix epithelium | UBERON:0004801 | 48.04 | gold quality |
| kidney epithelium | UBERON:0004819 | 47.92 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 47.92 | gold quality |
| intestine | UBERON:0000160 | 47.90 | gold quality |
| transverse colon | UBERON:0001157 | 47.85 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 47.80 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 47.74 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 47.70 | gold quality |
| renal glomerulus | UBERON:0000074 | 47.60 | gold quality |
| tibial nerve | UBERON:0001323 | 47.34 | gold quality |
| cranial nerve II | UBERON:0000941 | 47.28 | silver quality |
| granulocyte | CL:0000094 | 47.20 | silver quality |
| zone of skin | UBERON:0000014 | 47.17 | gold quality |
| periodontal ligament | UBERON:0008266 | 47.14 | gold quality |
| diaphragm | UBERON:0001103 | 47.05 | gold quality |
| gluteal muscle | UBERON:0002000 | 47.03 | gold quality |
| triceps brachii | UBERON:0001509 | 47.01 | gold quality |
| tibialis anterior | UBERON:0001385 | 46.82 | silver quality |
| tonsil | UBERON:0002372 | 46.59 | silver quality |
| skin of abdomen | UBERON:0001416 | 46.38 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 45.89 | gold quality |
| large intestine | UBERON:0000059 | 45.64 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 45.51 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 45.50 | gold quality |
| anatomical system | UBERON:0000467 | 45.48 | gold quality |
| colon | UBERON:0001155 | 45.45 | gold quality |
| material anatomical entity | UBERON:0000465 | 45.42 | gold quality |
| multicellular organism | UBERON:0000468 | 45.42 | gold quality |
| adrenal cortex | UBERON:0001235 | 45.33 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 45.30 | gold quality |
| fundus of stomach | UBERON:0001160 | 45.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 45.16 | gold quality |

#### Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 3.

| Experiment | Marker? | Max mean expression |
| --- | --- | --- |
| [E-MTAB-10042](https://www.ebi.ac.uk/gxa/sc/experiments/E-MTAB-10042) | yes | 138.78 |
| [E-HCAD-9](https://www.ebi.ac.uk/gxa/sc/experiments/E-HCAD-9) | yes | 6.51 |
| [E-MTAB-9067](https://www.ebi.ac.uk/gxa/sc/experiments/E-MTAB-9067) | yes | 4.66 |
| [E-HCAD-10](https://www.ebi.ac.uk/gxa/sc/experiments/E-HCAD-10) | no | 1.96 |
| [E-ANND-3](https://www.ebi.ac.uk/gxa/sc/experiments/E-ANND-3) | no | 1.29 |
| [E-MTAB-9467](https://www.ebi.ac.uk/gxa/sc/experiments/E-MTAB-9467) | no | 0.62 |

#### HPA expression

RNA tissue specificity: **Tissue enriched**

48 HPA tissues / cells by nTPM:

| Tissue / cell | Axis | nTPM |
| --- | --- | --- |
| Bone marrow | tissue | 47.3 |
| Olfactory bulb | tissue | 7.7 |
| Cerebellum | tissue | 6.4 |
| Cerebral cortex | tissue | 5.4 |
| Retrosplenial and cingulate cortex | tissue | 5.4 |
| Retrosplenial cortex | tissue | 5.0 |
| Temporal cortex | tissue | 5.0 |
| Basal ganglia | tissue | 4.9 |
| Insular cortex | tissue | 4.9 |
| Amygdala | tissue | 4.7 |
| Hippocampal formation | tissue | 4.5 |
| Entorhinal cortex | tissue | 4.5 |
| Occipital cortex | tissue | 4.4 |
| Prefrontal cortex | tissue | 3.9 |
| Ventral forebrain | tissue | 3.9 |
| Motor cortex | tissue | 3.8 |
| Putamen | tissue | 3.5 |
| Corpus callosum | tissue | 3.5 |
| Septum | tissue | 3.4 |
| Somatosensory cortex | tissue | 3.4 |
| Periaqueductal gray | tissue | 3.3 |
| Hypothalamus | tissue | 2.8 |
| Midbrain | tissue | 2.7 |
| Nucleus accumbens | tissue | 2.1 |
| Substantia nigra | tissue | 2.1 |
| Locus coeruleus | tissue | 2.1 |
| Pons | tissue | 2.0 |
| Medulla oblongata | tissue | 2.0 |
| Superior colliculi | tissue | 2.0 |
| Spinal cord | tissue | 2.0 |
| Choroid plexus | tissue | 1.9 |
| Thalamus | tissue | 1.7 |
| Hippocampus | tissue | 1.7 |
| Postcentral gyrus | tissue | 1.4 |
| Placenta | tissue | 1.1 |
| Duodenum | tissue | 1.1 |
| Small intestine | tissue | 0.7 |
| Gallbladder | tissue | 0.6 |
| Skin 1 | tissue | 0.5 |
| Stomach 1 | tissue | 0.5 |
| Kidney | tissue | 0.5 |
| Retina | tissue | 0.3 |
| Testis | tissue | 0.2 |
| Liver | tissue | 0.2 |
| Lymph node | tissue | 0.1 |
| Heart muscle | tissue | 0.1 |
| Skeletal muscle | tissue | 0.1 |
| Appendix | tissue | 0.1 |

**Brain sub-regions (HPA Brain Atlas):** detected in 188; highest nTPM — Parieto-temporal junction (white matter) (5.4), Medial olivary nucleus (4.2), Temporal white matter (4.1), Corpus callosum, genu (white matter) (4.0), Nucleus raphe obscurus (4.0).

### Regulation

**Is transcription factor: no**

### Functional genomics

**gnomAD constraint:** pLI 2.8e-08, LOEUF 1.64, missense Z 0.111 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). [gnomAD](https://gnomad.broadinstitute.org/)

**Regional missense constraint (gnomAD RMC):** no regional variation along `ENST00000373161` — one region, missense o/e 1.02.

### Literature-anchored findings (GeneRIF, showing 2)

- identify the TSPO2 family of proteins as mediators of cholesterol redistribution-dependent erythroblast maturation during mammalian erythropoiesis (PMID:19729679)
- TSPO ligands can induce Plasmodium falciparum death by increasing the uptake of porphyrins through a TSPO2-VDAC complex, which leads to an accumulation of reactive oxygen species. (PMID:27641616)

### Cross-species orthologs

**5 orthologs**

| Organism | Symbol | Gene ID |
| --- | --- | --- |
| danio_rerio | tspo | ENSDARG00000026655 |
| mus_musculus | Tspo2 | ENSMUSG00000023995 |
| rattus_norvegicus | Tspo2 | ENSRNOG00000050521 |
| drosophila_melanogaster | Tspo | FBGN0031263 |
| caenorhabditis_elegans | tspo-1 | WBGENE00077771 |

**Paralogs (1):** TSPO (ENSG00000100300)

#### Mouse-model phenotypes

Observed phenotypes of the mouse ortholog ([MGI:1917276](https://www.informatics.jax.org/marker/MGI:1917276)) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 6 distinct phenotype terms.

| Mouse phenotype (MP) | Records |
| --- | --- |
| decreased hematocrit | 1 |
| reticulocytosis | 1 |
| decreased hemoglobin content | 1 |
| decreased erythrocyte cell number | 1 |
| abnormal erythroblast morphology | 1 |
| increased erythrocyte sodium:potassium-exchanging ATPase activity | 1 |

#### Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara's model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions' gene symbols aren't in biobtree yet, so each row shows the UniProt accession.

| Organism | UniProt | Identity | Method |
| --- | --- | --- | --- |
| Bos taurus | [P30535](https://www.uniprot.org/uniprotkb/P30535/entry) | 94.1% | Diamond |
| Ovis aries | [Q9GMC9](https://www.uniprot.org/uniprotkb/Q9GMC9/entry) | 94.1% | Diamond |
| Sus scrofa | [Q6UN27](https://www.uniprot.org/uniprotkb/Q6UN27/entry) | 82.2% | Diamond |
| Canis lupus familiaris | [E2RDM9](https://www.uniprot.org/uniprotkb/E2RDM9/entry) | 72.1% | Diamond |
| Chlorobaculum tepidum TLS | [Q8KBX2](https://www.uniprot.org/uniprotkb/Q8KBX2/entry) | 47.1% | Diamond |

### Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

| Symbol | Type | Entrez |
| --- | --- | --- |
| [UNC5CL](/atlas/gene/UNC5CL/) | protein-coding | 222643 |
| [OARD1](/atlas/gene/OARD1/) | protein-coding | 221443 |
| [TREML1](/atlas/gene/TREML1/) | protein-coding | 340205 |
| [NFYA](/atlas/gene/NFYA/) | protein-coding | 4800 |
| [APOBEC2](/atlas/gene/APOBEC2/) | protein-coding | 10930 |
| [TREM2](/atlas/gene/TREM2/) | protein-coding | 54209 |

<a id="protein-Q5TGU0"></a>

## Protein

### Protein identifiers

**Translocator protein 2** — `Q5TGU0` (reviewed: Q5TGU0)

**Alternative names:** Peripheral-type benzodiazepine receptor-like protein 1

**All UniProt accessions (1):** `Q5TGU0`

#### UniProt curated annotations — [full annotation on UniProt →](https://www.uniprot.org/uniprotkb/Q5TGU0/entry)

**Function.** Cholesterol-binding protein involved in the redistribution of cholesterol from lipid droplets to the endoplasmic reticulum. Required to meet cholesterol demands during erythropoietic differentiation. May play a role in transport processes at the plasma membrane of erythrocytes, including regulating VDAC-mediated ATP export, and import of the heme precursors protoporphyrin IX and 5-aminolevulinic acid.

**Subunit / interactions.** Homotetramer. May also form homodimer.

**Subcellular location.** Endoplasmic reticulum membrane. Cell membrane.

**Tissue specificity.** Expressed in erythrocytes (at protein level).

**Domain organisation.** The C-terminal region mediates cholesterol-binding.

**Similarity.** Belongs to the TspO/BZRP family.

#### Isoforms (2)

| UniProt ID | Names | Canonical? |
| --- | --- | --- |
| Q5TGU0-1 | 1 | yes |
| Q5TGU0-2 | 2 |  |

**RefSeq proteins (2):** `NP_001010873`*, `NP_001153198`  (*=MANE)

#### Domains & families (InterPro)

| ID | Name | Type |
| --- | --- | --- |
| IPR004307 | TspO_MBR | Family |
| IPR038330 | TspO/MBR-related_sf | Homologous_superfamily |

**Pfam:** `PF03073`

**UniProt features (8 total):** transmembrane region 5, splice variant 2, chain 1

### Structure

#### Predicted structure (AlphaFold)

| Model | pLDDT | Fraction very-high |
| --- | --- | --- |
| AF-Q5TGU0-F1 | 68.09 | 0.00 |

### Human Protein Atlas

**Protein class:** Transporters, Predicted membrane proteins, Predicted intracellular proteins

**Protein evidence:** Evidence at protein level

**Subcellular location (HPA, imaging):** plasma membrane

**Antibody reliability (HPA):** IF enhanced

## Function

### Pathways and Gene Ontology

#### Reactome pathways

**0 curated (TAS)** of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

**MSigDB gene sets: 119** (showing top):
`GOBP_MYELOID_CELL_DIFFERENTIATION`, `MORF_RAGE`, `GOBP_MYELOID_CELL_HOMEOSTASIS`, `GOBP_ERYTHROCYTE_HOMEOSTASIS`, `GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT`, `GNF2_ANK1`, `GOBP_ORGANIC_ACID_TRANSPORT`, `GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT`, `GOBP_AMINO_ACID_TRANSPORT`, `GOBP_ORGANIC_ANION_TRANSPORT`, `GOCC_MITOCHONDRIAL_ENVELOPE`, `GNF2_SPTA1`, `GNF2_PCAF`, `TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA`, `GOBP_MONOCARBOXYLIC_ACID_TRANSPORT`

**GO Biological Process (5):**
intracellular cholesterol transport (GO:0032367), lipid droplet organization (GO:0034389), enucleate erythrocyte differentiation (GO:0043353), import across plasma membrane (GO:0098739), 5-aminolevulinic acid import across plasma membrane (GO:0140484)

**GO Molecular Function (3):**
cholesterol binding (GO:0015485), 5-aminolevulinic acid transmembrane transporter activity (GO:0140485), protein binding (GO:0005515)

**GO Cellular Component (6):**
mitochondrial outer membrane (GO:0005741), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), organelle membrane (GO:0031090), membrane (GO:0016020)

#### GO top-level categories

28 GO namespaces:

| Category | Terms |
| --- | --- |
| membrane | 2 |
| intracellular anatomical structure | 1 |
| cholesterol transport | 1 |
| intracellular sterol transport | 1 |
| organelle organization | 1 |
| erythrocyte differentiation | 1 |
| transmembrane transport | 1 |
| import into cell | 1 |
| monocarboxylic acid transport | 1 |
| nitrogen compound transport | 1 |
| amino acid import across plasma membrane | 1 |
| carboxylic acid transmembrane transport | 1 |
| sterol binding | 1 |
| alcohol binding | 1 |
| monocarboxylic acid transmembrane transporter activity | 1 |
| amino acid transmembrane transporter activity | 1 |
| binding | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cell periphery | 1 |
| membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |

#### Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 5 of 14 annotations. The rest are phylogenetic / computational / electronic (IEA).

5 experimentally-supported GO terms:

| GO term | NS | Evidence |
| --- | --- | --- |
| [5-aminolevulinic acid import across plasma membrane](https://amigo.geneontology.org/amigo/term/GO:0140484) | BP | mutant phenotype |
| [import across plasma membrane](https://amigo.geneontology.org/amigo/term/GO:0098739) | BP | direct assay |
| [organelle membrane](https://amigo.geneontology.org/amigo/term/GO:0031090) | CC | direct assay |
| [plasma membrane](https://amigo.geneontology.org/amigo/term/GO:0005886) | CC | direct assay |
| [5-aminolevulinic acid transmembrane transporter activity](https://amigo.geneontology.org/amigo/term/GO:0140485) | MF | mutant phenotype |

### Protein interactions and networks

#### STRING

showing 15 of 1,095 interactions by confidence (×1000):

| Protein A | Protein B | Partner UniProt | Score |
| --- | --- | --- | --- |
| TSPO2 | HBM | Q6B0K9 | 551 |
| TSPO2 | FAM174B | Q3ZCQ3 | 471 |
| TSPO2 | EPS8L1 | Q8TE68 | 463 |
| TSPO2 | STAR | P49675 | 463 |
| TSPO2 | HBQ1 | P09105 | 415 |
| TSPO2 | KLF1 | Q13351 | 388 |
| TSPO2 | CRYGN | Q8WXF5 | 378 |
| TSPO2 | GYPB | P06028 | 377 |
| TSPO2 | GYPE | P15421 | 372 |
| TSPO2 | LCP2 | Q13094 | 370 |
| TSPO2 | LRP2 | P98164 | 346 |
| TSPO2 | GYPA | P02724 | 340 |
| TSPO2 | UNC5A | Q6ZN44 | 339 |
| TSPO2 | TSPO | P30536 | 337 |
| TSPO2 | SLC4A1 | P02730 | 335 |

#### IntAct

Human interaction partners of TSPO2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 55 partners by confidence:

| Partner | Interaction type | MIscore | Records |
| --- | --- | --- | --- |
| CREB3L1 | physical association | 0.560 | 5 |
| RETREG3 | physical association | 0.560 | 5 |
| AHNAK2 | physical association | 0.560 | 3 |
| AQP6 | physical association | 0.560 | 3 |
| ARL13B | physical association | 0.560 | 3 |
| ASGR2 | physical association | 0.560 | 3 |
| ASZ1 | physical association | 0.560 | 3 |
| BIK | physical association | 0.560 | 3 |
| CD53 | physical association | 0.560 | 3 |
| CD69 | physical association | 0.560 | 3 |
| CD79A | physical association | 0.560 | 3 |
| CERS4 | physical association | 0.560 | 3 |
| CLDN4 | physical association | 0.560 | 3 |
| CNR2 | physical association | 0.560 | 3 |
| COL4A5 | physical association | 0.560 | 3 |
| CPLX4 | physical association | 0.560 | 3 |
| DKK4 | physical association | 0.560 | 3 |
| EBP | physical association | 0.560 | 3 |
| EFNA5 | physical association | 0.560 | 3 |
| EMP1 | physical association | 0.560 | 3 |
| ERGIC3 | physical association | 0.560 | 3 |
| ERP29 | physical association | 0.560 | 3 |
| FCGR1A | physical association | 0.560 | 3 |
| FFAR2 | physical association | 0.560 | 3 |
| FNDC9 | physical association | 0.560 | 3 |
| FXYD3 | physical association | 0.560 | 3 |
| GGT7 | physical association | 0.560 | 3 |
| GJB5 | physical association | 0.560 | 3 |
| GPR152 | physical association | 0.560 | 3 |
| GPR42 | physical association | 0.560 | 3 |

**BioGRID (62 interactions; top human partners by supporting records):** AHNAK2 (Two-hybrid), AQP6 (Two-hybrid), ARL13B (Two-hybrid), ASGR2 (Two-hybrid), ASZ1 (Two-hybrid), BIK (Two-hybrid), C10orf54 (Two-hybrid), CD53 (Two-hybrid), CD69 (Two-hybrid), CD79A (Two-hybrid), CERS4 (Two-hybrid), CLDN4 (Two-hybrid), CNR2 (Two-hybrid), COL4A5 (Two-hybrid), CPLX4 (Two-hybrid)

#### SIGNOR signaling

2 signaling interactions:

| A | Effect | B | Mechanism |
| --- | --- | --- | --- |
| TSPO2 | "up-regulates activity" | SLC25A4 | binding |
| TSPO2 | "up-regulates activity" | VDAC1 | binding |

## Disease & clinical

### Genetic variants

**Variant evidence for TSPO2:** [20 ClinVar records](#clinvar) (0 pathogenic / likely pathogenic); [2 GWAS associations](#gwas-assoc).

#### ClinVar

20 variants total. Per-class counts are floors (≥ shown; pagination cap):

| Classification | Count (floor) |
| --- | --- |
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 2 |
| Benign | 0 |

#### SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 19 predictions of 307):

| Position(s) | Effect | Δscore | Sites |
| --- | --- | --- | --- |
| 6:41043938–41043939 | acceptor_loss | 0.9700 | 6 |
| 6:41043159–41043160 | donor_loss | 0.9600 | 5 |
| 6:41043933 | acceptor_loss | 0.9500 |  |
| 6:41043160 | donor_loss | 0.9400 |  |
| 6:41043163 | donor_loss | 0.9400 |  |
| 6:41042775 | donor_gain | 0.9300 |  |
| 6:41043163 | donor_loss | 0.9000 |  |
| 6:41043163 | donor_loss | 0.8800 |  |
| 6:41043937 | acceptor_loss | 0.8600 |  |
| 6:41042768 | donor_gain | 0.8500 |  |

#### AlphaMissense

98 missense substitutions predicted likely pathogenic (of 1,064 scored), across 48 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
| --- | --- | --- | --- |
| W124 | 5 | 0.771 | 0.890 |
| G58 | 4 | 0.800 | 0.897 |
| W141 | 4 | 0.750 | 0.891 |
| G15 | 4 | 0.741 | 0.844 |
| W91 | 4 | 0.736 | 0.859 |
| W65 | 4 | 0.683 | 0.717 |
| W153 | 4 | 0.683 | 0.732 |
| S90 | 3 | 0.921 | 0.921 |
| S119 | 3 | 0.886 | 0.886 |
| F8 | 3 | 0.799 | 0.799 |
| G115 | 3 | 0.762 | 0.777 |
| P137 | 3 | 0.746 | 0.836 |
| S61 | 3 | 0.690 | 0.739 |
| F97 | 3 | 0.682 | 0.682 |
| F98 | 3 | 0.676 | 0.676 |
| N128 | 3 | 0.617 | 0.654 |
| A60 | 2 | 0.759 | 0.805 |
| P12 | 2 | 0.682 | 0.683 |
| V64 | 2 | 0.677 | 0.788 |
| L142 | 2 | 0.677 | 0.726 |

### HPA cancer prognostics

**RNA cancer specificity:** Cancer enhanced (Liver Hepatocellular Carcinoma)

### Disease associations

**OMIM:** gene `MIM:619409` | disease phenotypes: 

#### GWAS associations

2 associations:

| Study | Trait | p-value |
| --- | --- | --- |
| GCST003007_1 | Non-cardia gastric cancer | 3e-8 |
| GCST003010_4 | Gastric cancer | 7e-8 |

## Drugs & pharmacology

### Drug and pharmacology data

**Is drug target: no**

**PharmGKB:** 1 entry (CPIC guideline: no)

#### CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

| Chemical | Actions (top 5) | PubMed papers |
| --- | --- | --- |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| perfluorooctanoic acid | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | affects cotreatment, decreases expression | 1 |
| perfluorohexanesulfonic acid | affects cotreatment, decreases expression | 1 |
| theaflavin-3,3'-digallate | affects expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Cyclosporine | increases expression | 1 |

#### Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

## Related Atlas pages

- **Disease cohort memberships** *(association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases)*: [gastric carcinoma](/atlas/disease/gastric-carcinoma/)