TIMM22 translocase of inner mitochondrial membrane 22 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIMM22provided by HGNC
Official Full Name: translocase of inner mitochondrial membrane 22provided by HGNC
Primary source: HGNC:HGNC:17317
See related: Ensembl:ENSG00000177370 MIM:607251; AllianceGenome:HGNC:17317
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: TEX4; TIM22; COXPD43
Summary: Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]
Expression: Ubiquitous expression in heart (RPKM 10.4), placenta (RPKM 10.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (997129..1003671)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (883817..890361)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (900369..906911)

Chromosome 17 - NC_000017.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression.
Title: TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression.
Cryo-EM structure of the human mitochondrial translocase TIM22 complex.
Title: Cryo-EM structure of the human mitochondrial translocase TIM22 complex.
The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism.
Title: The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism.
Defining the architecture of the human TIM22 complex by chemical crosslinking.
Title: Defining the architecture of the human TIM22 complex by chemical crosslinking.
Defining the Substrate Spectrum of the TIM22 Complex Identifies Pyruvate Carrier Subunits as Unconventional Cargos.
Title: Defining the Substrate Spectrum of the TIM22 Complex Identifies Pyruvate Carrier Subunits as Unconventional Cargos.
Biogenesis of Mitochondrial Metabolite Carriers.
Title: Biogenesis of Mitochondrial Metabolite Carriers.
The human TIM22 complex associates with the mitochondrial contact site and cristae organizing system (MICOS) complex.
Title: A MICOS-TIM22 Association Promotes Carrier Import into Human Mitochondria.
Identify AGK as a bona fide subunit of TIM22 providing an exciting and unexpected link between mitochondrial protein import and Sengers syndrome.
Title: Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.
The dual function of AGK as lipid kinase and constituent of the TIM22 complex reveals that disturbances in both phospholipid metabolism and mitochondrial protein biogenesis contribute to the pathogenesis of Sengers syndrome.
Title: Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Associated conditions

Description	Tests
Combined oxidative phosphorylation deficiency 43 MedGen: C5394284 OMIM: 618851 GeneReviews: Not available	Compare labs

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

SHGC-31242 (e-PCR)
- UniSTS:23835

SHGC-102222 (e-PCR)
- UniSTS:183016

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mitochondrion targeting sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables protein transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in protein insertion into mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein insertion into mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein insertion into mitochondrial inner membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein insertion into mitochondrial inner membrane	TAS Traceable Author Statement more info	PubMed
involved_in protein transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of TIM22 mitochondrial import inner membrane insertion complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TIM22 mitochondrial import inner membrane insertion complex	IDA Inferred from Direct Assay more info	PubMed
part_of TIM22 mitochondrial import inner membrane insertion complex	IPI Inferred from Physical Interaction more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	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 Tim22

Names: testis-expressed protein 4; testis-expressed sequence 4; translocase of inner mitochondrial membrane 22 homolog

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.