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

    Gene ID: 51075, updated on 28-Oct-2024

    Summary

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    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; AllianceGenome:HGNC:30739
    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
    mouse all
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    Genomic context

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    See TMX2 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57712593..57740973)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57662769..57691303)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57480065..57508445)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57435387-57436026 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57436027-57436664 Neighboring gene zinc finger DHHC-type palmitoyltransferase 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:57471607-57472806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3357 Neighboring gene TMX2-CTNND1 readthrough (NMD candidate) Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:57483025-57483535 Neighboring gene mediator complex subunit 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57492459-57492960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57492961-57493460 Neighboring gene peptidylprolyl isomerase A pseudogene 42 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4731 Neighboring gene selenoprotein H Neighboring gene BTB domain containing 18 Neighboring gene catenin delta 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:57546031-57546233 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57546189-57547075 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57547076-57547961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57551728-57552228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4732 Neighboring gene Sharpr-MPRA regulatory region 6223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4733

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. Ghosh SG, et al. J Med Genet, 2020 Apr. PMID 31586943, Free PMC Article
    2. TMX family genes and their association with prognosis, immune infiltration, and chemotherapy in human pan-cancer. Luo N, et al. Aging (Albany NY), 2023 Dec 21. PMID 38147024, Free PMC Article
    3. Cloning and identification of a novel cDNA coding thioredoxin-related transmembrane protein 2. Meng X, et al. Biochem Genet, 2003 Apr. PMID 12670024
    4. Thioredoxin-related transmembrane protein 2 (TMX2) regulates the Ran protein gradient and importin-β-dependent nuclear cargo transport. Oguro A, et al. Sci Rep, 2019 Oct 25. PMID 31653923, Free PMC Article
    5. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. Vandervore LV, et al. Am J Hum Genet, 2019 Dec 5. PMID 31735293, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMX family genes and their association with prognosis, immune infiltration, and chemotherapy in human pan-cancer.
      Title: TMX family genes and their association with prognosis, immune infiltration, and chemotherapy in human pan-cancer.
    2. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
      Title: Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
    3. Thioredoxin-related transmembrane protein 2 (TMX2) regulates the Ran protein gradient and importin-beta-dependent nuclear cargo transport.
      Title: Thioredoxin-related transmembrane protein 2 (TMX2) regulates the Ran protein gradient and importin-β-dependent nuclear cargo transport.
    4. TMX2 Dysfunction Causes Severe Brain Developmental Abnormalities.
      Title: TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
    5. TMX2 is enriched on the mitochondria-associated membrane. Targeting TMX to the MAM requires palmitoylation of two membrane-proximal cytosolic cysteines.
      Title: Palmitoylated TMX and calnexin target to the mitochondria-associated membrane.
    6. molecular cloning and characterization of one member of the thioredoxin superfamily, designated as TMX2; the TMX2 cDNA consists of 1644 nucleotides and contains an open reading frame encoding a protein of 372 amino acids
      Title: Cloning and identification of a novel cDNA coding thioredoxin-related transmembrane protein 2.
    Submit: New GeneRIF Correction

    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
    Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
    MedGen: C5231480 OMIM: 618730 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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
    		  
    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 
    is_active_in membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondria-associated endoplasmic reticulum membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondria-associated endoplasmic reticulum membrane contact site 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

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    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)

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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.

    Genomic

    1. NG_052993.1 RefSeqGene

      Range
      5071..33451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144012.3 → NP_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/TrEMBL
      B2R7I0
      Related
      ENSP00000367562.4, ENST00000378312.8
      Conserved Domains (1) summary
      cd02962
      Location:83 → 221
      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_001347890.2 → NP_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
      UniProtKB/TrEMBL
      B2R7I0

    3. NM_001347891.2 → NP_001334820.1  thioredoxin-related transmembrane protein 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931, BQ920164
      UniProtKB/TrEMBL
      A0AAQ5BGW3

    4. NM_001347892.2 → NP_001334821.1  thioredoxin-related transmembrane protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931
      UniProtKB/TrEMBL
      B7Z4Y0

    5. NM_001347893.2 → NP_001334822.1  thioredoxin-related transmembrane protein 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931
      UniProtKB/TrEMBL
      B7Z4Y0

    6. NM_001347894.2 → NP_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
      UniProtKB/TrEMBL
      B7Z4Y0

    7. NM_001347895.2 → NP_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
      UniProtKB/TrEMBL
      B7Z4Y0

    8. NM_001347896.2 → NP_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
      UniProtKB/TrEMBL
      B7Z4Y0

    9. NM_001347898.2 → NP_001334827.1  thioredoxin-related transmembrane protein 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931

    10. NM_015959.4 → NP_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
      B7Z4R4, Q53G73, Q561W0, Q5J7Q7, Q8NBP9, Q9H3L1, Q9Y320
      UniProtKB/TrEMBL
      B2R7I0
      Related
      ENSP00000278422.4, ENST00000278422.9
      Conserved Domains (1) summary
      cd02962
      Location:109 → 259
      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
      Related
      ENST00000713775.1

    2. NR_144933.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000662, AP001931
      Related
      ENST00000713777.1

    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
      Related
      ENST00000525035.6

    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_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57662769..57691303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y320.1 GenPept UniProtKB/Swiss-Prot:Q9Y320

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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