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    TIMM8B translocase of inner mitochondrial membrane 8 homolog B [ Homo sapiens (human) ]

    Gene ID: 26521, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TIMM8Bprovided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 8 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:11818
    See related
    Ensembl:ENSG00000150779 MIM:606659; AllianceGenome:HGNC:11818
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DDP2; TIM8B
    Summary
    This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]
    Expression
    Ubiquitous expression in heart (RPKM 16.7), colon (RPKM 15.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TIMM8B in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112084800..112086756, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112095054..112097010, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111955524..111957480, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 893, pseudogene Neighboring gene dihydrolipoamide S-acetyltransferase Neighboring gene PIH1 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5531 Neighboring gene NKAP domain containing 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111958561-111959094 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:111970495-111970703 Neighboring gene succinate dehydrogenase complex subunit D Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18793 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18795 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18799 Neighboring gene Sharpr-MPRA regulatory region 14451 Neighboring gene interleukin 18

    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. The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space. Hofmann S, et al. J Biol Chem, 2002 Jun 28. PMID 11956200
    2. Crystal structure of the mitochondrial chaperone TIM9.10 reveals a six-bladed alpha-propeller. Webb CT, et al. Mol Cell, 2006 Jan 6. PMID 16387659
    3. The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins. Jin H, et al. Genomics, 1999 Nov 1. PMID 10552927
    4. The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom. Bauer MF, et al. FEBS Lett, 1999 Dec 24. PMID 10611480
    5. Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy. Pieragostino D, et al. Mol Biosyst, 2013 Jun. PMID 23580065

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with translocase of inner mitochondrial membrane 8 homolog B (TIMM8B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21744, MGC102866, MGC117373

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables zinc ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein insertion into mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein insertion into mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein insertion into mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein targeting to mitochondrion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in sensory perception of sound TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial intermembrane space NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial intermembrane space protein transporter complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of mitochondrial intermembrane space protein transporter complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    mitochondrial import inner membrane translocase subunit Tim8 B
    Names
    DDP-like protein
    deafness dystonia protein 2

    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.

    Genomic

    1. NG_033145.1 RefSeqGene

      Range
      5043..6999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012459.4 → NP_036591.3  mitochondrial import inner membrane translocase subunit Tim8 B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AP002007
      Consensus CDS
      CCDS8357.3
      UniProtKB/Swiss-Prot
      B0YJA5, Q3KQS9, Q9UN04, Q9Y5J9
      UniProtKB/TrEMBL
      G3XAN8
      Related
      ENSP00000422122.2, ENST00000504148.3
      Conserved Domains (1) summary
      pfam02953
      Location:16 → 74
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    RNA

    1. NR_028383.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant (2) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP002007
      Related
      ENST00000509359.6

    2. NR_160400.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP002007

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      112084800..112086756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      112095054..112097010 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5J9.1 GenPept UniProtKB/Swiss-Prot:Q9Y5J9

    Gene LinkOut

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

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