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    TSPO2 translocator protein 2 [ Homo sapiens (human) ]

    Gene ID: 222642, updated on 27-Nov-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
    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, Nov 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

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    See TSPO2 in Genome Data Viewer
    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_000006.12Genomic 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 (10) 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)

    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 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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    NEW Try the new Transcript table

    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_2024_08

    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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