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TSPO2 translocator protein 2 [ Homo sapiens (human) ]

Gene ID: 222642, updated on 11-Apr-2024

Summary

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Official Symbol
TSPO2provided by HGNC
Official Full Name
translocator protein 2provided by HGNC
Primary source
HGNC:HGNC:21256
See related
Ensembl:ENSG00000112212 MIM:619409; AllianceGenome:HGNC:21256
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BZRPL1
Summary
Predicted to enable cholesterol binding activity. Involved in amino acid import across plasma membrane. Located in organelle membrane and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in bone marrow (RPKM 6.9) and testis (RPKM 0.2) See more
Orthologs
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Genomic context

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Location:
6p21.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41041386..41044337)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (40869908..40872901)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41010206..41012076)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929555 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:40867240-40867751 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:40867752-40868262 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:40885732-40886434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:40886435-40887135 Neighboring gene Sharpr-MPRA regulatory region 12741 Neighboring gene Sharpr-MPRA regulatory region 875 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:40916844-40917696 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:40951247-40951770 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:40951771-40952292 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:40964711-40965384 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:40965385-40966057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17171 Neighboring gene unc-5 family C-terminal like Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17173 Neighboring gene O-acyl-ADP-ribose deacylase 1 Neighboring gene nuclear transcription factor Y subunit alpha Neighboring gene ADCY10 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. TSPO2 translocates 5-aminolevulinic acid into human erythroleukemia cells. Manceau H, et al. Biol Cell, 2020 Apr. PMID 31989647
  2. Translocator protein 2 is involved in cholesterol redistribution during erythropoiesis. Fan J, et al. J Biol Chem, 2009 Oct 30. PMID 19729679, Free PMC Article
  3. TSPO ligands stimulate ZnPPIX transport and ROS accumulation leading to the inhibition of P. falciparum growth in human blood. Marginedas-Freixa I, et al. Sci Rep, 2016 Sep 19. PMID 27641616, Free PMC Article
  4. PTEN identified as important risk factor of chronic obstructive pulmonary disease. Hosgood HD 3rd, et al. Respir Med, 2009 Dec. PMID 19625176, Free PMC Article
  5. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. Hosgood HD 3rd, et al. Carcinogenesis, 2008 Oct. PMID 18676680, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
    Title: TSPO ligands stimulate ZnPPIX transport and ROS accumulation leading to the inhibition of P. falciparum growth in human blood.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. identify the TSPO2 family of proteins as mediators of cholesterol redistribution-dependent erythroblast maturation during mammalian erythropoiesis
    Title: Translocator protein 2 is involved in cholesterol redistribution during erythropoiesis.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: PTEN identified as important risk factor of chronic obstructive pulmonary disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC129806, MGC129807

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5-aminolevulinic acid transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cholesterol binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in 5-aminolevulinic acid import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in enucleate erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in import across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intracellular cholesterol transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lipid droplet organization ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in organelle membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
translocator protein 2
Names
benzodiazapine receptor (peripheral)-like 1
peripheral-type benzodiazepine receptor-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001010873.3 → NP_001010873.1  translocator protein 2

    See identical proteins and their annotated locations for NP_001010873.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AI052224, AL031778, BC137565, BU655765, BU657409
    Consensus CDS
    CCDS34444.1
    UniProtKB/Swiss-Prot
    B2RPR2, B7ZMN8, Q3SX82, Q5TGU0
    Related
    ENSP00000362255.1, ENST00000373161.6
    Conserved Domains (1) summary
    pfam03073
    Location:10 → 154
    TspO_MBR; TspO/MBR family

  2. NM_001159726.1 → NP_001153198.1  translocator protein 2

    See identical proteins and their annotated locations for NP_001153198.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AI052224, BC144710
    Consensus CDS
    CCDS34444.1
    UniProtKB/Swiss-Prot
    B2RPR2, B7ZMN8, Q3SX82, Q5TGU0
    Related
    ENSP00000419985.1, ENST00000470917.1
    Conserved Domains (1) summary
    pfam03073
    Location:10 → 154
    TspO_MBR; TspO/MBR family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    41041386..41044337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514396.3 → XP_011512698.1  translocator protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011512698.1

    UniProtKB/Swiss-Prot
    B2RPR2, B7ZMN8, Q3SX82, Q5TGU0
    Conserved Domains (1) summary
    pfam03073
    Location:10 → 154
    TspO_MBR; TspO/MBR family

  2. XM_011514397.3 → XP_011512699.1  translocator protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011512699.1

    UniProtKB/Swiss-Prot
    B2RPR2, B7ZMN8, Q3SX82, Q5TGU0
    Conserved Domains (1) summary
    pfam03073
    Location:10 → 154
    TspO_MBR; TspO/MBR family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    40869908..40872901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354652.1 → XP_054210627.1  translocator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2RPR2, B7ZMN8, Q3SX82, Q5TGU0

  2. XM_054354653.1 → XP_054210628.1  translocator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2RPR2, B7ZMN8, Q3SX82, Q5TGU0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TGU0.1 GenPept UniProtKB/Swiss-Prot:Q5TGU0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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