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

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; 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

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_000011.10 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?

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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-53144 (e-PCR)
- UniSTS:43265

RH80714 (e-PCR)
- UniSTS:91505

RH64925 (e-PCR)
- UniSTS:49069

RH94343 (e-PCR)
- UniSTS:88563

WI-11979 (e-PCR)
- UniSTS:80122

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 more info	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 more info	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

NG_033145.1 RefSeqGene

Range

5043..6999

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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
NR_160400.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP002007