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Aliases for TMX2 Gene

Aliases for TMX2 Gene

  • Thioredoxin Related Transmembrane Protein 2 2 3 5
  • Protein Disulfide Isomerase Family A, Member 12 2 3
  • Thioredoxin-Related Transmembrane Protein 2 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. An important paralog of this gene is TMX2-CTNND1.

Additional gene information for TMX2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMX2 Gene

Genomics for TMX2 Gene

GeneHancer (GH) Regulatory Elements for TMX2 Gene

Promoters and enhancers for TMX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I057710 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.0 36 3.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MED19 PIR45741 TMX2 TMX2-CTNND1 SSRP1 ZFP91 ENSG00000269570 YPEL4 ENSG00000254732 SELENOH
GH11I057480 Enhancer 0.7 ENCODE 9.8 -232.0 -232020 0.2 CTCF SAP130 ZNF529 FEZF1 RAD21 CTBP1 HNF4G ZNF143 EZH2 THAP11 TIMM10 TMX2 ENSG00000255301 GC11P057511
GH11I057740 Promoter/Enhancer 1.6 Ensembl ENCODE 0.3 +29.4 29366 2.7 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D ENSG00000254732 GC11M057740 GC11P057749 GC11P057750 PIR53867 SELENOH CLP1 MED19 ENSG00000269570 SSRP1
GH11I057735 Enhancer 0.8 ENCODE 0.3 +23.6 23589 1.4 HDAC1 PKNOX1 ARNT TCF12 ATF7 ZBTB11 NCOA1 ZEB2 ZNF592 MBD2 GC11M057737 YPEL4 PPIAP42 TMX2 TMX2-CTNND1 GC11P057680
GH11I057733 Enhancer 0.5 ENCODE 0.3 +21.1 21061 0.2 SREBF1 SMARCE1 E2F1 CTBP1 GATA3 FOS ZBTB33 GC11M057737 PPIAP42 TMX2 TMX2-CTNND1 GC11P057680
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMX2 gene promoter:

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)

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; Positions=283; Evidence={ECO:0000305}; Sequence=BAC11569.1; Type=Frameshift; Positions=282; 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

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 membrane proteins
  • Predicted secreted proteins

Protein Domains for TMX2 Gene

Suggested Antigen Peptide Sequences for TMX2 Gene

GenScript: Design optimal peptide antigens:

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

Phenotypes for TMX2 Gene

GenomeRNAi human phenotypes for TMX2:
genes like me logo Genes that share phenotypes with TMX2: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1

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

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

Unigene Clusters for TMX2 Gene

Thioredoxin-related transmembrane protein 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
TMX2

Expression for TMX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for TMX2 Gene



Protein tissue co-expression partners for TMX2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMX2 Gene:

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 34
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm5499 34
  • 93 (a)
OneToMany
Tmx2 33 16 34
  • 87.8 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TMX2 33 34
  • 90.54 (n)
cow
(Bos Taurus)
Mammalia TMX2 33 34
  • 88.63 (n)
rat
(Rattus norvegicus)
Mammalia Tmx2 33
  • 88.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 86 (a)
OneToMany
TMX2 33
  • 77.03 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 87 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmx2 33
  • 69.55 (n)
Str.17694 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24015 33
zebrafish
(Danio rerio)
Actinopterygii tmx2b 33 34
  • 68.81 (n)
tmx2a 34
  • 63 (a)
ManyToMany
wufa09g10 33
fruit fly
(Drosophila melanogaster)
Insecta CG11007 33 34
  • 51.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009997 33
  • 51.03 (n)
worm
(Caenorhabditis elegans)
Secernentea C35D10.10 33 34
  • 47.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5859 34
  • 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)

Paralogs for TMX2 Gene

Paralogs for TMX2 Gene

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

Pseudogenes.org Pseudogenes for TMX2 Gene

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

Variants for TMX2 Gene

Sequence variations from dbSNP and Humsavar for TMX2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs750470937 uncertain-significance, Abnormality of neuronal migration 57,737,988(+) A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs759161110 uncertain-significance, Abnormality of neuronal migration 57,739,207(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs1000033039 -- 57,722,793(+) G/A intron_variant
rs1000144659 -- 57,716,013(+) T/C intron_variant
rs1000217791 -- 57,716,112(+) G/A/T intron_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMX2 Gene

Disorders for TMX2 Gene

Additional Disease Information for TMX2

No disorders were found for TMX2 Gene.

No data available for MalaCards , 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 22 58
  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 58
  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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TMX2 Gene

Sources for TMX2 Gene

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