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 mit... See more...

Aliases for TMX2 Gene

Aliases for TMX2 Gene

  • Thioredoxin Related Transmembrane Protein 2 2 3 5
  • Thioredoxin-Related Transmembrane Protein 2 2 3 4
  • Protein Disulfide Isomerase Family A, Member 12 2 3
  • Cell Proliferation-Inducing Gene 26 Protein 3 4
  • Thioredoxin Domain-Containing Protein 14 3 4
  • TXNDC14 3 4
  • Thioredoxin Domain Containing 14 2
  • Growth-Inhibiting Gene 11 3
  • CGI-31 3
  • PDIA12 3
  • PIG26 3

External Ids for TMX2 Gene

Previous HGNC Symbols for TMX2 Gene

  • TXNDC14

Previous GeneCards Identifiers for TMX2 Gene

  • GC11P057255
  • GC11P057236
  • GC11P057480
  • GC11P053828
  • GC11P057485

Summaries for TMX2 Gene

Entrez Gene Summary for TMX2 Gene

  • 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]

GeneCards Summary for TMX2 Gene

TMX2 (Thioredoxin Related Transmembrane Protein 2) is a Protein Coding gene. Diseases associated with TMX2 include Trichinosis. An important paralog of this gene is TMX2-CTNND1.

Additional gene information for TMX2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMX2 Gene

Genomics for TMX2 Gene

GeneHancer (GH) Regulatory Elements for TMX2 Gene

Promoters and enhancers for TMX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMX2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMX2

Top Transcription factor binding sites by QIAGEN in the TMX2 gene promoter:
  • Brachyury
  • c-Myb
  • C/EBPbeta
  • HOXA9
  • HOXA9B
  • POU2F1
  • POU2F1a

Genomic Locations for TMX2 Gene

Genomic Locations for TMX2 Gene
chr11:57,712,523-57,740,973
(GRCh38/hg38)
Size:
28,451 bases
Orientation:
Plus strand
chr11:57,479,995-57,508,445
(GRCh37/hg19)
Size:
28,451 bases
Orientation:
Plus strand

Genomic View for TMX2 Gene

Genes around TMX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMX2 Gene

Proteins for TMX2 Gene

  • Protein details for TMX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y320-TMX2_HUMAN
    Recommended name:
    Thioredoxin-related transmembrane protein 2
    Protein Accession:
    Q9Y320
    Secondary Accessions:
    • B7Z4R4
    • Q53G73
    • Q561W0
    • Q5J7Q7
    • Q8NBP9
    • Q9H3L1

    Protein attributes for TMX2 Gene

    Size:
    296 amino acids
    Molecular mass:
    34038 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG43122.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC11569.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TMX2 Gene

    Alternative splice isoforms for TMX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMX2 Gene

Post-translational modifications for TMX2 Gene

  • Ubiquitination at Lys215
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMX2 Gene

Domains & Families for TMX2 Gene

Gene Families for TMX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMX2 Gene

Blocks:
  • Thioredoxin type domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMX2 Gene

GenScript: Design optimal peptide antigens:
  • Thioredoxin domain-containing protein 14 (TMX2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y320

UniProtKB/Swiss-Prot:

TMX2_HUMAN :
  • The thioredoxin domain lacks the 2 redox-active cysteines, suggesting that it lacks thioredoxin activity.
Domain:
  • The thioredoxin domain lacks the 2 redox-active cysteines, suggesting that it lacks thioredoxin activity.
  • The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
genes like me logo Genes that share domains with TMX2: view

Function for TMX2 Gene

Phenotypes From GWAS Catalog for TMX2 Gene

Gene Ontology (GO) - Molecular Function for TMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMX2: view
genes like me logo Genes that share phenotypes with TMX2: view

Animal Models for TMX2 Gene

MGI Knock Outs for TMX2:
  • Tmx2 Tmx2<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for TMX2

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMX2 Gene

Localization for TMX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMX2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMX2 gene
Compartment Confidence
endoplasmic reticulum 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005623 cell IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMX2: view

Pathways & Interactions for TMX2 Gene

PathCards logo

SuperPathways for TMX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0045454 cell redox homeostasis IEA --
genes like me logo Genes that share ontologies with TMX2: view

No data available for Pathways by source and SIGNOR curated interactions for TMX2 Gene

Drugs & Compounds for TMX2 Gene

No Compound Related Data Available

Transcripts for TMX2 Gene

mRNA/cDNA for TMX2 Gene

10 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMX2 Gene

No ASD Table

Relevant External Links for TMX2 Gene

GeneLoc Exon Structure for
TMX2

Expression for TMX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMX2 Gene

Protein differential expression in normal tissues from HIPED for TMX2 Gene

This gene is overexpressed in Bone (18.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMX2 Gene



Protein tissue co-expression partners for TMX2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMX2

SOURCE GeneReport for Unigene cluster for TMX2 Gene:

Hs.654965

mRNA Expression by UniProt/SwissProt for TMX2 Gene:

Q9Y320-TMX2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TMX2 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Liver(4.4)
  • Eye(4.3)
  • Thyroid gland(4.3)
  • Blood(4.1)
  • Pancreas(3.1)
  • Intestine(2.7)
  • Lung(2.7)
genes like me logo Genes that share expression patterns with TMX2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMX2 Gene

Orthologs for TMX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMX2 31
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm5499 31
  • 93 (a)
OneToMany
Tmx2 17 31 30
  • 87.8 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 91 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TMX2 31 30
  • 90.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMX2 31 30
  • 88.63 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmx2 30
  • 88.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 86 (a)
OneToMany
TMX2 30
  • 77.03 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 87 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmx2 30
  • 69.55 (n)
Str.17694 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24015 30
zebrafish
(Danio rerio)
Actinopterygii tmx2b 31 30
  • 68.81 (n)
ManyToMany
tmx2a 31
  • 63 (a)
ManyToMany
wufa09g10 30
fruit fly
(Drosophila melanogaster)
Insecta CG11007 31 30
  • 51.5 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009997 30
  • 51.03 (n)
worm
(Caenorhabditis elegans)
Secernentea C35D10.10 31 30
  • 47.71 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5859 31
  • 43 (a)
OneToMany
Species where no ortholog for TMX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMX2 Gene

ENSEMBL:
Gene Tree for TMX2 (if available)
TreeFam:
Gene Tree for TMX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMX2: view image

Paralogs for TMX2 Gene

Paralogs for TMX2 Gene

(1) SIMAP similar genes for TMX2 Gene using alignment to 5 proteins:

  • TMX2_HUMAN
  • E9PLR1_HUMAN
  • E9PRL5_HUMAN
  • E9PSF0_HUMAN
  • G3V155_HUMAN

Pseudogenes.org Pseudogenes for TMX2 Gene

genes like me logo Genes that share paralogs with TMX2: view

Variants for TMX2 Gene

Additional dbSNP identifiers (rs#s) for TMX2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMX2 Gene

Variant ID Type Subtype PubMed ID
esv2668702 CNV deletion 23128226
esv3579728 CNV loss 25503493
esv3626507 CNV loss 21293372
nsv1138036 CNV deletion 24896259
nsv326 CNV insertion 18451855
nsv508633 CNV deletion 20534489
nsv832163 CNV gain 17160897
nsv832164 CNV loss 17160897
nsv975188 CNV duplication 23825009

Variation tolerance for TMX2 Gene

Residual Variation Intolerance Score: 63.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMX2 Gene

Disorders for TMX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMX2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
trichinosis
  • trichinella spiralis infection
- elite association - COSMIC cancer census association via MalaCards
Search TMX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMX2

genes like me logo Genes that share disorders with TMX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMX2 Gene

Publications for TMX2 Gene

  1. Cloning and identification of a novel cDNA coding thioredoxin-related transmembrane protein 2. (PMID: 12670024) Meng X … Mao Y (Biochemical genetics 2003) 2 3 4 23 54
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 54
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54
  4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for TMX2 Gene

Sources for TMX2 Gene