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

Gene ID: 51075, updated on 25-Jan-2022

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
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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
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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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. Cloning and identification of a novel cDNA coding thioredoxin-related transmembrane protein 2. Meng X, et al. Biochem Genet, 2003 Apr. PMID 12670024
  3. 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
  4. 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
  5. Palmitoylated TMX and calnexin target to the mitochondria-associated membrane. Lynes EM, et al. EMBO J, 2012 Jan 18. PMID 22045338, Free PMC Article

See all (33) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
    Title: Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephaly.
  2. 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.
  3. 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.
  4. 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.
  5. 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
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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
 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

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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
    5001..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/Swiss-Prot
    Q9Y320
    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

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

    Status: VALIDATED

    Source sequence(s)
    AP000662, AP001931, BQ920164

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

    Status: VALIDATED

    Source sequence(s)
    AP000662, AP001931

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

    Status: VALIDATED

    Source sequence(s)
    AP000662, AP001931

  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

  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

  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

  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
    Q9Y320
    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

  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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y320.1 GenPept UniProtKB/Swiss-Prot:Q9Y320

Gene LinkOut

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