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    TMX2 thioredoxin related transmembrane protein 2 [ Homo sapiens (human) ]

    Gene ID: 51075, updated on 5-Jan-2022

    Summary

    Official Symbol
    TMX2provided by HGNC
    Official Full Name
    thioredoxin related transmembrane protein 2provided by HGNC
    Primary source
    HGNC:HGNC:30739
    See related
    Ensembl:ENSG00000213593 MIM:616715
    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
    PIG26; CGI-31; PDIA12; NEDMCMS; TXNDC14
    Summary
    This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]
    Expression
    Ubiquitous expression in brain (RPKM 42.0), thyroid (RPKM 36.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TMX2 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (57712593..57740973)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57480065..57508445)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type palmitoyltransferase 5 Neighboring gene TMX2-CTNND1 readthrough (NMD candidate) Neighboring gene mediator complex subunit 19 Neighboring gene peptidylprolyl isomerase A pseudogene 42 Neighboring gene selenoprotein H Neighboring gene BTB domain containing 18 Neighboring gene catenin delta 1 Neighboring gene Sharpr-MPRA regulatory region 6223

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC111151, DKFZp781O2021

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables disulfide oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables disulfide oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondria-associated endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    thioredoxin-related transmembrane protein 2
    Names
    cell proliferation-inducing gene 26 protein
    growth-inhibiting gene 11
    protein disulfide isomerase family A, member 12
    thioredoxin domain-containing protein 14

    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.

    Genomic

    1. NG_052993.1 RefSeqGene

      Range
      5001..33451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144012.3NP_001137484.1  thioredoxin-related transmembrane protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001137484.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 4.
      Source sequence(s)
      AL037895, AP001931, BC093062, BI762960
      Consensus CDS
      CCDS44601.1
      UniProtKB/Swiss-Prot
      Q9Y320
      Related
      ENSP00000367562.4, ENST00000378312.8
      Conserved Domains (1) summary
      cd02962
      Location:83221
      TMX2; TMX2 family; composed of proteins similar to human TMX2, a 372-amino acid TRX-related transmembrane protein, identified and characterized through the cloning of its cDNA from a human fetal library. It contains a TRX domain but the redox active CXXC motif ...
    2. NM_001347890.2NP_001334819.1  thioredoxin-related transmembrane protein 2 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) encodes the longest isoform (4).
      Source sequence(s)
      AP000662, AP001931
    3. NM_001347891.2NP_001334820.1  thioredoxin-related transmembrane protein 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931, BQ920164
    4. NM_001347892.2NP_001334821.1  thioredoxin-related transmembrane protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931
    5. NM_001347893.2NP_001334822.1  thioredoxin-related transmembrane protein 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931
    6. NM_001347894.2NP_001334823.1  thioredoxin-related transmembrane protein 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 9 and 10, encodes isoform 3.
      Source sequence(s)
      AP000662, AP001931
    7. NM_001347895.2NP_001334824.1  thioredoxin-related transmembrane protein 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 3 and 10, encodes isoform 3.
      Source sequence(s)
      AP000662, AP001931
    8. NM_001347896.2NP_001334825.1  thioredoxin-related transmembrane protein 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 3 and 9, encodes isoform 3.
      Source sequence(s)
      AP000662, AP001931
    9. NM_001347898.2NP_001334827.1  thioredoxin-related transmembrane protein 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931
    10. NM_015959.4NP_057043.1  thioredoxin-related transmembrane protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_057043.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 4.
      Source sequence(s)
      AF132965, AL037895, AP001931, BI762960
      Consensus CDS
      CCDS7967.1
      UniProtKB/Swiss-Prot
      Q9Y320
      Related
      ENSP00000278422.4, ENST00000278422.9
      Conserved Domains (1) summary
      cd02962
      Location:109259
      TMX2; TMX2 family; composed of proteins similar to human TMX2, a 372-amino acid TRX-related transmembrane protein, identified and characterized through the cloning of its cDNA from a human fetal library. It contains a TRX domain but the redox active CXXC motif ...

    RNA

    1. NR_037645.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons and uses an alternate splice junction compared to variant 5. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 5, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL037895, AP001931, BI762960, BQ686696
    2. NR_144933.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931
    3. NR_144934.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931
      Related
      ENST00000529403.1
    4. NR_144935.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931

    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_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      57712593..57740973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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