Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMX3 Gene

Aliases for TMX3 Gene

  • Thioredoxin Related Transmembrane Protein 3 2 3 5
  • Protein Disulfide Isomerase Family A, Member 13 2 3
  • Thioredoxin-Related Transmembrane Protein 3 2 4
  • Thioredoxin Domain-Containing Protein 10 3 4
  • Thioredoxin Domain Containing 10 2 3
  • EC 5.3.4.1 4 61
  • TXNDC10 3 4
  • Protein Disulfide-Isomerase TMX3 3
  • KIAA1830 4
  • PDIA13 3

External Ids for TMX3 Gene

Previous HGNC Symbols for TMX3 Gene

  • TXNDC10

Previous GeneCards Identifiers for TMX3 Gene

  • GC18M064493
  • GC18M066340
  • GC18M063058

Summaries for TMX3 Gene

Entrez Gene Summary for TMX3 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 canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]

GeneCards Summary for TMX3 Gene

TMX3 (Thioredoxin Related Transmembrane Protein 3) is a Protein Coding gene. Diseases associated with TMX3 include Trichinosis. Among its related pathways are Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include calcium ion binding and protein disulfide isomerase activity. An important paralog of this gene is PDIA4.

UniProtKB/Swiss-Prot for TMX3 Gene

  • Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase.

Gene Wiki entry for TMX3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMX3 Gene

Genomics for TMX3 Gene

Regulatory Elements for TMX3 Gene

Enhancers for TMX3 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
GH18G068426 1.1 Ensembl ENCODE dbSUPER 5.7 +286.7 286714 4.0 JUN BHLHE40 ZSCAN4 EP300 HIC1 JUND POLR2A SMARCA4 FOS TMX3 ENSG00000265425 AKR1B10P2
GH18G068416 0.9 ENCODE dbSUPER 6.1 +297.1 297081 2.8 JUN BHLHE40 CEBPB EP300 JUND MAFF POLR2A SMARCA4 FOS NFE2 TMX3 ENSG00000265425 GC18M068366
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMX3 on UCSC Golden Path with GeneCards custom track

Promoters for TMX3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000104723 398 2600 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 SP3 SP5 MXD4

Genomic Location for TMX3 Gene

Chromosome:
18
Start:
68,673,688 bp from pter
End:
68,715,298 bp from pter
Size:
41,611 bases
Orientation:
Minus strand

Genomic View for TMX3 Gene

Genes around TMX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMX3 Gene

Proteins for TMX3 Gene

  • Protein details for TMX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JJ7-TMX3_HUMAN
    Recommended name:
    Protein disulfide-isomerase TMX3
    Protein Accession:
    Q96JJ7
    Secondary Accessions:
    • B3KV75
    • Q52LT7
    • Q8N5J0
    • Q9NWJ9

    Protein attributes for TMX3 Gene

    Size:
    454 amino acids
    Molecular mass:
    51872 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91381.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB47459.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMX3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMX3 Gene

Selected DME Specific Peptides for TMX3 Gene

Q96JJ7:
  • FHRDFQFGHMDGNDYIN
  • LYELGDTGKLVA
  • GCFLFGLPLGVISIMCYGI
  • YSSIASEFGVRG
  • VVLNTSNQQYFL
  • TYFVYDEYEDGDLSSW
  • RTKDDII

Post-translational modifications for TMX3 Gene

Domains & Families for TMX3 Gene

Gene Families for TMX3 Gene

Protein Domains for TMX3 Gene

Graphical View of Domain Structure for InterPro Entry

Q96JJ7

UniProtKB/Swiss-Prot:

TMX3_HUMAN :
  • The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
  • Belongs to the protein disulfide isomerase family.
Domain:
  • The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
Family:
  • Belongs to the protein disulfide isomerase family.
genes like me logo Genes that share domains with TMX3: view

Function for TMX3 Gene

Molecular function for TMX3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Redox potential: E(0) is -157 mV. {ECO:0000269 PubMed:15623505};
UniProtKB/Swiss-Prot CatalyticActivity:
Catalyzes the rearrangement of -S-S- bonds in proteins.
UniProtKB/Swiss-Prot Function:
Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase.
UniProtKB/Swiss-Prot Induction:
Not up-regulated by unfolded protein response (UPR).

Enzyme Numbers (IUBMB) for TMX3 Gene

Gene Ontology (GO) - Molecular Function for TMX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0016853 isomerase activity IEA --
GO:0016972 thiol oxidase activity IDA 15623505
genes like me logo Genes that share ontologies with TMX3: view
genes like me logo Genes that share phenotypes with TMX3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMX3 Gene

Localization for TMX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMX3 Gene

Endoplasmic reticulum membrane; Single-pass 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 TMX3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for TMX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA 15623505
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 19995400
genes like me logo Genes that share ontologies with TMX3: view

Pathways & Interactions for TMX3 Gene

genes like me logo Genes that share pathways with TMX3: view

Gene Ontology (GO) - Biological Process for TMX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006457 protein folding IBA --
GO:0018171 peptidyl-cysteine oxidation IDA 15623505
GO:0034976 response to endoplasmic reticulum stress IBA --
GO:0045454 cell redox homeostasis IEA --
genes like me logo Genes that share ontologies with TMX3: view

No data available for SIGNOR curated interactions for TMX3 Gene

Drugs & Compounds for TMX3 Gene

No Compound Related Data Available

Transcripts for TMX3 Gene

Unigene Clusters for TMX3 Gene

Thioredoxin-related transmembrane protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMX3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: - -
SP6: -
SP7:

Relevant External Links for TMX3 Gene

GeneLoc Exon Structure for
TMX3
ECgene alternative splicing isoforms for
TMX3

Expression for TMX3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMX3 Gene

Protein differential expression in normal tissues from HIPED for TMX3 Gene

This gene is overexpressed in Nasal epithelium (17.4), Lymph node (9.7), and Bone (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMX3 Gene



Protein tissue co-expression partners for TMX3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMX3 Gene:

TMX3

SOURCE GeneReport for Unigene cluster for TMX3 Gene:

Hs.440534

mRNA Expression by UniProt/SwissProt for TMX3 Gene:

Q96JJ7-TMX3_HUMAN
Tissue specificity: Widely expressed. Expressed in brain, testis, lung, skin, kidney, uterus, bone, stomach, liver, prostate, placenta, eye and muscle.

Evidence on tissue expression from TISSUES for TMX3 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Intestine(4.3)
  • Muscle(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with TMX3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMX3 Gene

Orthologs for TMX3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TMX3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMX3 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia TMX3 34 35
  • 90.8 (n)
mouse
(Mus musculus)
Mammalia Tmx3 16 35 34
  • 90.5 (n)
rat
(Rattus norvegicus)
Mammalia Tmx3 34
  • 88.51 (n)
cow
(Bos Taurus)
Mammalia TMX3 34 35
  • 87.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMX3 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMX3 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMX3 34 35
  • 75.79 (n)
lizard
(Anolis carolinensis)
Reptilia TMX3 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmx3 34
  • 71.03 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:152808 34
  • 64.55 (n)
tmx3 35
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5027 34 35
  • 46.48 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005431 34
  • 43.54 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK973.11 34 35
  • 47.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 35
  • 14 (a)
ManyToMany
EUG1 35
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10269 35
  • 32 (a)
OneToOne
Species where no ortholog for TMX3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 TMX3 Gene

ENSEMBL:
Gene Tree for TMX3 (if available)
TreeFam:
Gene Tree for TMX3 (if available)

Paralogs for TMX3 Gene

Variants for TMX3 Gene

Sequence variations from dbSNP and Humsavar for TMX3 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs552445199 Uncertain significance 68,711,389(+) CATTT(C/T)GATTT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000003885 -- 68,701,684(+) CGTAA(C/T)AAAAT intron-variant
rs1000096842 -- 68,702,108(+) AAATA(A/C)GTAAG intron-variant
rs1000129206 -- 68,693,333(+) CGTGG(A/G)GTGGG intron-variant
rs1000323214 -- 68,687,452(+) AGTTC(C/T)ATTAG intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for TMX3 Gene

Variant ID Type Subtype PubMed ID
dgv3390n100 CNV gain 25217958
esv2758736 CNV gain+loss 17122850
esv3642946 CNV loss 21293372
esv3893127 CNV gain 25118596
nsv1058755 CNV gain 25217958
nsv458117 CNV gain 19166990
nsv577329 CNV gain 21841781
nsv577369 CNV gain 21841781

Variation tolerance for TMX3 Gene

Residual Variation Intolerance Score: 63.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMX3 Gene

Human Gene Mutation Database (HGMD)
TMX3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMX3 Gene

Disorders for TMX3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMX3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
trichinosis
  • trichinella spiralis infection
- elite association - COSMIC cancer census association via MalaCards
Search TMX3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TMX3

Genetic Association Database (GAD)
TMX3
Human Genome Epidemiology (HuGE) Navigator
TMX3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMX3
genes like me logo Genes that share disorders with TMX3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMX3 Gene

Publications for TMX3 Gene

  1. Identification and characterization of a novel thioredoxin-related transmembrane protein of the endoplasmic reticulum. (PMID: 15623505) Haugstetter J. … Ellgaard L. (J. Biol. Chem. 2005) 2 3 4 22 64
  2. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. (PMID: 20485507) Chao R. … Slavotinek A. (PLoS ONE 2010) 3 22 64
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for TMX3 Gene

Sources for TMX3 Gene

Content
Loading form....