TSPO2

protein-coding

translocator protein 2

Gene summary

Enables 5-aminolevulinic acid transmembrane transporter activity. Involved in 5-aminolevulinic acid import across plasma membrane. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

BZRPL1

MANE transcript

NM_001010873.3

Inheritance

—

ClinVar variants

U:16B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr6:41,042,467-41,044,337

External References & Databases

Ensembl (ENSG00000112212)

Transcript & Mutation Effects

hg38 • Region Span ~1.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TSPO2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 16

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001010873.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			15 clinvar	2 clinvar		17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	16	2	0	18

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001010873.3	RefSeq	NP_001010873.1	3	MANE Select
ENST00000373161.6	Ensembl	ENSP00000362255.1	3	MANE Select
NM_001159726.1	RefSeq	NP_001153198.1	3	Standard
ENST00000373158.6	Ensembl	ENSP00000362252.2	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

cholesterol binding

Cellular Component

endoplasmic reticulum
endoplasmic reticulum membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373161
Coding exons: 3
Length: 1784
Individuals with no LoFs: 125728
Homozygous LoFs: 1
Heterozygous LoFs: 19
Defined: 125748
p: 0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.550	75	89.6	0.837	0.00000455	1059
Missense (PolyPhen)		19	30.052	0.63224		427
Synonymous	0.510	38	42.2	0.900	0.00000214	381
Loss of Function	0.473	5	6.28	0.796	2.68e-7	65

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000080	0.000079	rare
South Asian	0.000099	0.000065	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds cholesterol and mediates its redistribution during erythropoiesis which may play a role in erythrocyte maturation. {ECO:0000269|PubMed:19729679}.;

Recessive Scores

pRec: 0.0822

Intolerance Scores

LoFtool: 0.786
RVIS EVS: 0.7
RVIS percentile EVS: 85.34

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.231

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium