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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
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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 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)

Genotypes

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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