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    MTX2 metaxin 2 [ Homo sapiens (human) ]

    Gene ID: 10651, updated on 10-Dec-2024

    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
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    Genomic context

    See MTX2 in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 4 Neighboring gene ribosomal protein SA pseudogene 25 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:177133811-177134438 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:177134439-177135064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16789 Neighboring gene peptidylprolyl isomerase A pseudogene 67 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12136 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:177314476-177315083 Neighboring gene Sharpr-MPRA regulatory region 13302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16791 Neighboring gene NRF2 regulation associated lncRNA

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    metaxin-2
    Names
    mitochondrial outer membrane import complex protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/TrEMBL
      B7Z9F3
      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/TrEMBL
      C9JAZ1
      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
      A8JZZ4, O75431, Q53S50, Q53SQ2, Q5M7Z6, Q8IZ68
      UniProtKB/TrEMBL
      B3KM74
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      176269442..176338025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442985.1XP_047298941.1  metaxin-2 isoform X1

      UniProtKB/TrEMBL
      B7Z9F3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      176757567..176826151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340212.1XP_054196187.1  metaxin-2 isoform X1

      UniProtKB/TrEMBL
      B7Z9F3