MTX2 metaxin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTX2provided by HGNC
Official Full Name: metaxin 2provided by HGNC
Primary source: HGNC:HGNC:7506
See related: Ensembl:ENSG00000128654 MIM:608555; AllianceGenome:HGNC:7506
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: MDPS; metaxin-2
Summary: The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]
Expression: Ubiquitous expression in testis (RPKM 27.0), adrenal (RPKM 14.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (176269442..176338025)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (176757567..176826151)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (177134170..177202753)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients.
Title: Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients.
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Title: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import
Title: The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.
The pathway of Voltage-dependent anion-selective channel biogenesis in human mitochondria involves the TOM complex, Sam50 and metaxins, and that it is evolutionarily conserved.
Title: Conserved roles of Sam50 and metaxins in VDAC biogenesis.

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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
Mandibuloacral dysplasia progeroid syndrome MedGen: C5436867 OMIM: 619127 GeneReviews: Not available	not available

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

A009S33 (e-PCR)
- UniSTS:44922

G32818 (e-PCR)
- UniSTS:117397

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in inner mitochondrial membrane organization	IC Inferred by Curator more info	PubMed
involved_in mitochondrial transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	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

Component	Evidence Code	Pubs
part_of MIB complex	HDA more info	PubMed
part_of SAM complex	HDA more info	PubMed
part_of SAM complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SAM complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: metaxin-2

Names: mitochondrial outer membrane import complex 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.

mRNA and Protein(s)

NM_001006635.3 → NP_001006636.1 metaxin-2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AI991560, BC017271, BG699784

UniProtKB/TrEMBL

B7Z9F3

Conserved Domains (3) summary

cd03211
Location:115 → 240

GST_C_Metaxin2; C-terminal, alpha helical domain of Metaxin 2

COG0625
Location:56 → 242

GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

cd03079
Location:12 → 85

GST_N_Metaxin2; GST_N family, Metaxin subfamily, Metaxin 2; a metaxin 1 binding protein identified through a yeast two-hybrid system using metaxin 1 as the bait. Metaxin 2 shares sequence similarity with metaxin 1 but does not contain a C-terminal mitochondrial outer ...
NM_001319097.2 → NP_001306026.1 metaxin-2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AI991560, BC017271, BG699784, CX165048

UniProtKB/TrEMBL

C9JAZ1

Related

ENSP00000398757.1, ENST00000452865.1

Conserved Domains (3) summary

cd03211
Location:125 → 227

GST_C_Metaxin2; C-terminal, alpha helical domain of Metaxin 2

COG0625
Location:66 → 229

GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

cd03079
Location:22 → 95

GST_N_Metaxin2; GST_N family, Metaxin subfamily, Metaxin 2; a metaxin 1 binding protein identified through a yeast two-hybrid system using metaxin 1 as the bait. Metaxin 2 shares sequence similarity with metaxin 1 but does not contain a C-terminal mitochondrial outer ...
NM_001319098.2 → NP_001306027.1 metaxin-2 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate 3' coding exon compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC073069, AI991560, BC017271, BG699784, BU165147

UniProtKB/Swiss-Prot

O75431

Conserved Domains (2) summary

cd03079
Location:22 → 95

GST_N_Metaxin2; GST_N family, Metaxin subfamily, Metaxin 2; a metaxin 1 binding protein identified through a yeast two-hybrid system using metaxin 1 as the bait. Metaxin 2 shares sequence similarity with metaxin 1 but does not contain a C-terminal mitochondrial outer ...

cl02776
Location:125 → 183

GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
NM_006554.5 → NP_006545.1 metaxin-2 isoform 1

See identical proteins and their annotated locations for NP_006545.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AI991560, BC067831

Consensus CDS

CCDS2272.1

UniProtKB/Swiss-Prot

A8JZZ4, O75431, Q53S50, Q53SQ2, Q5M7Z6, Q8IZ68

UniProtKB/TrEMBL

B3KM74

Related

ENSP00000249442.6, ENST00000249442.11

Conserved Domains (2) summary

cd03211
Location:125 → 250

GST_C_Metaxin2; C-terminal, alpha helical domain of Metaxin 2

cd03079
Location:22 → 95

GST_N_Metaxin2; GST_N family, Metaxin subfamily, Metaxin 2; a metaxin 1 binding protein identified through a yeast two-hybrid system using metaxin 1 as the bait. Metaxin 2 shares sequence similarity with metaxin 1 but does not contain a C-terminal mitochondrial outer ...