TOMM20 translocase of outer mitochondrial membrane 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOMM20provided by HGNC
Official Full Name: translocase of outer mitochondrial membrane 20provided by HGNC
Primary source: HGNC:HGNC:20947
See related: Ensembl:ENSG00000173726 MIM:601848; AllianceGenome:HGNC:20947
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MAS20; MOM19; TOM20
Summary: Enables protein-transporting ATPase activity and unfolded protein binding activity. Involved in protein targeting to mitochondrion. Located in mitochondria-associated endoplasmic reticulum membrane and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 101.1), brain (RPKM 96.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (235109341..235128837, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (234501058..234520553, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (235272656..235292152, complement)

Chromosome 1 - NC_000001.11 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: 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?

Association of poly(rC)-binding protein-2 with sideroflexin-3 through TOM20 as an iron entry pathway to mitochondria.
Title: Association of poly(rC)-binding protein-2 with sideroflexin-3 through TOM20 as an iron entry pathway to mitochondria.
AR antagonists develop drug resistance through TOMM20 autophagic degradation-promoted transformation to neuroendocrine prostate cancer.
Title: AR antagonists develop drug resistance through TOMM20 autophagic degradation-promoted transformation to neuroendocrine prostate cancer.
Iron induces B cell pyroptosis through Tom20-Bax-caspase-gasdermin E signaling to promote inflammation post-spinal cord injury.
Title: Iron induces B cell pyroptosis through Tom20-Bax-caspase-gasdermin E signaling to promote inflammation post-spinal cord injury.
TOMM20 as a Potential Prognostic Biomarker in Chordoma: Results From a High-Volume, Single-Center Study.
Title: TOMM20 as a Potential Prognostic Biomarker in Chordoma: Results From a High-Volume, Single-Center Study.
Melatonin promoted osteogenesis of human periodontal ligament cells by regulating mitochondrial functions through the translocase of the outer mitochondrial membrane 20.
Title: Melatonin promoted osteogenesis of human periodontal ligament cells by regulating mitochondrial functions through the translocase of the outer mitochondrial membrane 20.
ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway.
Title: ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway.
Structural basis of Tom20 and Tom22 cytosolic domains as the human TOM complex receptors.
Title: Structural basis of Tom20 and Tom22 cytosolic domains as the human TOM complex receptors.
Analysis of mitochondrial regulatory transcripts in publicly available datasets with validation in placentae from pre-term, post-term and fetal growth restriction pregnancies.
Title: Analysis of mitochondrial regulatory transcripts in publicly available datasets with validation in placentae from pre-term, post-term and fetal growth restriction pregnancies.
The receptor subunit Tom20 is dynamically associated with the TOM complex in mitochondria of human cells.
Title: The receptor subunit Tom20 is dynamically associated with the TOM complex in mitochondria of human cells.
TOM20-mediated transfer of Bcl2 from ER to MAM and mitochondria upon induction of apoptosis.
Title: TOM20-mediated transfer of Bcl2 from ER to MAM and mitochondria upon induction of apoptosis.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Replication interactions

Interaction	Pubs
HIV-1 encephalitis infection upregulates TOM20 and TOM40 protein levels in post-mortem brain samples	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 ADA Env (gp120) relocalizes TOM20 into puncta on the dendrites of rat cortical neurons	PubMed
	env	HIV-1 Env (gp120) upregulates TOM20 and TOM40 protein levels in transgenic mouse neurons	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

D1S2271 (e-PCR)
- UniSTS:88112

RH78701 (e-PCR)
- UniSTS:36656

RH28291 (e-PCR)
- UniSTS:88393

SHGC-76525 (e-PCR)
- UniSTS:49289

G32829 (e-PCR)
- UniSTS:117408

A009U01 (e-PCR)
- UniSTS:22469

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mitochondrion targeting sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables mitochondrion targeting sequence binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to protein transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-transporting ATPase activity	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in protein import into mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein insertion into mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in protein targeting to mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA import into mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of TOM complex	NAS Non-traceable Author Statement more info	PubMed
located_in cell periphery	IEA Inferred from Electronic Annotation more info
located_in migrasome	IEA Inferred from Electronic Annotation more info
located_in mitochondria-associated endoplasmic reticulum membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
part_of mitochondrial outer membrane translocase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial outer membrane translocase complex	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial outer membrane translocase complex	TAS Traceable Author Statement more info	PubMed
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in sperm midpiece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: mitochondrial import receptor subunit TOM20 homolog

Names: mitochondrial 20 kDa outer membrane protein; outer mitochondrial membrane receptor Tom20; translocase of outer mitochondrial membrane 20 homolog type II

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.