Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 26521, updated on 4-Jul-2021

    Summary

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TIMM8B in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (112084800..112086756, complement)
    105.20201022 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 NKAP domain containing 1 Neighboring gene succinate dehydrogenase complex subunit D Neighboring gene interleukin 18

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21744, MGC102866, MGC117373

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_033145.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_012459.4NP_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
      CCDS8357.2
      Related
      ENSP00000422122.2, ENST00000504148.3
      Conserved Domains (1) summary
      pfam02953
      Location:1674
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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