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MTX2 metaxin 2 [ Homo sapiens (human) ]

Gene ID: 10651, updated on 25-Nov-2021

Summary

Official Symbol
MTX2provided by HGNC
Official Full Name
metaxin 2provided by HGNC
Primary source
HGNC:HGNC:7506
See related
Ensembl:ENSG00000128654 MIM:608555
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
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Genomic context

See MTX2 in Genome Data Viewer
Location:
2q31.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (176269423..176338025)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (177134170..177202753)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 4 Neighboring gene ribosomal protein SA pseudogene 25 Neighboring gene peptidylprolyl isomerase A pseudogene 67 Neighboring gene Sharpr-MPRA regulatory region 8538

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111067

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
PubMed 
Component Evidence Code Pubs
part_of MIB complex HDA PubMed 
part_of SAM complex HDA PubMed 
part_of SAM complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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

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)

  1. NM_001006635.3NP_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/Swiss-Prot
    O75431
    Conserved Domains (3) summary
    cd03211
    Location:115240
    GST_C_Metaxin2; C-terminal, alpha helical domain of Metaxin 2
    COG0625
    Location:56242
    GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
    cd03079
    Location:1285
    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 ...
  2. NM_001319097.2NP_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/Swiss-Prot
    O75431
    Related
    ENSP00000398757.1, ENST00000452865.1
    Conserved Domains (3) summary
    cd03211
    Location:125227
    GST_C_Metaxin2; C-terminal, alpha helical domain of Metaxin 2
    COG0625
    Location:66229
    GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
    cd03079
    Location:2295
    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 ...
  3. NM_001319098.2NP_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:2295
    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:125183
    GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
  4. NM_006554.5NP_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
    O75431
    Related
    ENSP00000249442.6, ENST00000249442.11
    Conserved Domains (2) summary
    cd03211
    Location:125250
    GST_C_Metaxin2; C-terminal, alpha helical domain of Metaxin 2
    cd03079
    Location:2295
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    176269423..176338025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510497.2XP_011508799.1  metaxin-2 isoform X1

    Related
    ENSP00000414176.1, ENST00000443241.5
    Conserved Domains (2) summary
    cd03211
    Location:76201
    GST_C_Metaxin2; C-terminal, alpha helical domain of Metaxin 2
    pfam10568
    Location:1113
    Tom37; Outer mitochondrial membrane transport complex protein
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