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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.

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

Regulatory Elements for TMX2 Gene

Enhancers for TMX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G057710 1.1 ENCODE 0.7 +0.0 36 3.3 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 SSRP1 ENSG00000269570 MED19 YPEL4 SELENOH ENSG00000254732 BTBD18 CTNND1 SMTNL1 PIR45741
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMX2 on UCSC Golden Path with GeneCards custom track

Promoters for TMX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039916 -23 2201 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2

Genomic Location for TMX2 Gene

Chromosome:
11
Start:
57,712,523 bp from pter
End:
57,740,973 bp from pter
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; 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

  • 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

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

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

  • Taconic Biosciences Mouse Models for TMX2

Inhibitory RNA 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

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:

Inhibitory RNA 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
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

Primer Products

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 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm5499 35
  • 93 (a)
OneToMany
Tmx2 34 16 35
  • 87.8 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 91 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TMX2 34 35
  • 90.54 (n)
cow
(Bos Taurus)
Mammalia TMX2 34 35
  • 88.63 (n)
rat
(Rattus norvegicus)
Mammalia Tmx2 34
  • 88.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 86 (a)
OneToMany
TMX2 34
  • 77.03 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 87 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmx2 34
  • 69.55 (n)
Str.17694 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24015 34
zebrafish
(Danio rerio)
Actinopterygii tmx2b 34 35
  • 68.81 (n)
tmx2a 35
  • 63 (a)
ManyToMany
wufa09g10 34
fruit fly
(Drosophila melanogaster)
Insecta CG11007 34 35
  • 51.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009997 34
  • 51.03 (n)
worm
(Caenorhabditis elegans)
Secernentea C35D10.10 34 35
  • 47.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5859 35
  • 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 Sequence Context AA Info Type
rs750470937 Uncertain significance 57,737,988(+) CTTGG(A/G)TATTC intron-variant, nc-transcript-variant, reference, missense
rs759161110 Uncertain significance 57,739,207(+) CAATG(A/C/T)GGCGG intron-variant, nc-transcript-variant, reference, missense
rs1000033039 -- 57,722,793(+) AGATA(A/G)TAGAA intron-variant
rs1000144659 -- 57,716,013(+) CGATT(C/T)TTCAA intron-variant
rs1000217791 -- 57,716,112(+) CAGAC(G/T)GGGTG 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)

Relevant External Links 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

Relevant External Links for TMX2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Biochem. Genet. 2003) 2 3 4 22 64
  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 Res. 2005) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for TMX2 Gene

Sources for TMX2 Gene

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