TSPO2 translocator protein 2 [Homo sapiens (human)] - Gene

Summary

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: Enables 5-aminolevulinic acid transmembrane transporter activity. Involved in 5-aminolevulinic acid import across plasma membrane. Located in organelle membrane and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in bone marrow (RPKM 6.9) and testis (RPKM 0.2) See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (41041386..41044337)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (40869908..40872901)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (41010206..41012076)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: PTEN identified as important risk factor of chronic obstructive pulmonary disease.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	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
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 mitochondrial outer 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)

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
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