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... See more...

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
  • Protein Disulfide-Isomerase TMX3 3 4
  • EC 5.3.4.1 4 51
  • KIAA1830 2 4
  • TXNDC10 3 4
  • PDIA13 2 3
  • FLJ20793 2
  • TMX3 5

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 Microphthalmia and Trichinosis. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein disulfide isomerase activity. An important paralog of this gene is PDIA3.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for TMX3 Gene

Genomics for TMX3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMX3 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
GH18J068713 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.4 372 3.2 GATAD2A TFE3 IKZF1 KDM1A POLR2A BACH1 LARP7 GABPA PRDM1 ZNF143 CCDC102B TMX3 lnc-CCDC102B-1 lnc-CD226-6
GH18J068416 Enhancer 0.9 Ensembl ENCODE dbSUPER 6.1 +297.0 296955 2.8 POLR2A JUND CEBPB NFE2 JUN MAFF FOS CREB1 BHLHE40 MAFK TMX3 piR-38352-281 LINC01912 ENSG00000287907 DSEL
GH18J068426 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.7 +285.7 285658 5.9 ZSCAN4 POLR2A JUND MAFF FOS BHLHE40 MAFK HIC1 JUN SMARCA4 TMX3 ENSG00000265425 AKR1B10P2 ENSG00000287907 DSEL
GH18J068735 Enhancer 0.5 Ensembl 7.7 -20.4 -20428 0.4 CTCF RAD21 TRIM22 SMC3 ZNF654 TMX3 ENSG00000276092 ENSG00000263637 CCDC102B lnc-CCDC102B-1 DOK6
GH18J068702 Enhancer 0.6 Ensembl 5.2 +11.5 11473 3 GATAD2A SOX13 RXRB FOXA2 ATF2 FOXP1 KLF8 SAP130 PRDM4 ZNF18 TMX3 lnc-CD226-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMX3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMX3

Top Transcription factor binding sites by QIAGEN in the TMX3 gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2

Genomic Locations for TMX3 Gene

Genomic Locations for TMX3 Gene
chr18:68,673,688-68,715,173
(GRCh38/hg38)
Size:
41,486 bases
Orientation:
Minus strand
chr18:66,340,925-66,382,535
(GRCh37/hg19)
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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB47459.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

  • N-glycosylated.
  • Glycosylation at Asn258 and Asn313
  • Ubiquitination at Lys81 and Lys267
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for TMX3 Gene

Gene Families for TMX3 Gene

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

Protein Domains for TMX3 Gene

InterPro:
Blocks:
  • Thioredoxin type domain
ProtoNet:

Suggested Antigen Peptide Sequences for TMX3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60560, highly similar to Protein disulfide-isomerase TXNDC10 (EC 5.3.4.1) (B4DIE3_HUMAN)
  • TMX3 protein (Q3B7X1_HUMAN)
  • Thioredoxin-related transmembrane protein 3 (TMX3_HUMAN)

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 Function:
Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Catalyzes the rearrangement of -S-S- bonds in proteins.; EC=5.3.4.1; Evidence={ECO:0000269|PubMed:15623505};.
UniProtKB/Swiss-Prot Induction:
Not up-regulated by unfolded protein response (UPR).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Redox potential: E(0) is -157 mV. {ECO:0000269|PubMed:15623505};

Enzyme Numbers (IUBMB) for TMX3 Gene

Phenotypes From GWAS Catalog 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 IEA --
GO:0005515 protein binding IPI 25416956
GO:0016853 isomerase activity IEA --
GO:0016972 thiol oxidase activity IBA,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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMX3

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
plasma membrane 4
endoplasmic reticulum 4
extracellular 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMX3 Gene

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:0018171 peptidyl-cysteine oxidation IBA,IDA 15623505
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

mRNA/cDNA for TMX3 Gene

7 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMX3

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

Expression for TMX3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TMX3 Gene



Protein tissue co-expression partners for TMX3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Muscle(4.4)
  • Skin(4.3)
  • Intestine(4.3)
  • Kidney(2.6)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with TMX3: view

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 30 31
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMX3 30 31
  • 90.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmx3 30 17 31
  • 90.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmx3 30
  • 88.51 (n)
Cow
(Bos Taurus)
Mammalia TMX3 30 31
  • 87.37 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMX3 31
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMX3 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMX3 30 31
  • 75.79 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMX3 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmx3 30
  • 71.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:152808 30
  • 64.55 (n)
tmx3 31
  • 49 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5027 30 31
  • 46.48 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005431 30
  • 43.54 (n)
Worm
(Caenorhabditis elegans)
Secernentea ZK973.11 30 31
  • 47.25 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 31
  • 14 (a)
ManyToMany
EUG1 31
  • 13 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10269 31
  • 32 (a)
OneToOne
Species where no ortholog for TMX3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TMX3: view image

Paralogs for TMX3 Gene

(65) SIMAP similar genes for TMX3 Gene using alignment to 8 proteins:

  • TMX3_HUMAN
  • B4DIE3_HUMAN
  • F5H4F7_HUMAN
  • H3BPB3_HUMAN
  • H3BRY0_HUMAN
  • H3BT89_HUMAN
  • H3BVI1_HUMAN
  • Q3B7X1_HUMAN
genes like me logo Genes that share paralogs with TMX3: view

Variants for TMX3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMX3 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs552445199 Uncertain Significance: not provided 68,711,389(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs11557684 - p.Pro61Ser

Additional dbSNP identifiers (rs#s) for TMX3 Gene

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)

Additional Variant Information for TMX3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TMX3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
microphthalmia
  • microphthalmos
trichinosis
  • trichinella spiralis infection
diaphragmatic hernia, congenital
  • dih
attention deficit-hyperactivity disorder
  • adhd
- elite association - COSMIC cancer census association via MalaCards
Search TMX3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMX3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (The Journal of biological chemistry 2005) 2 3 4 23
  2. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. (PMID: 20485507) Chao R … Slavotinek A (PloS one 2010) 3 23
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for TMX3 Gene

Sources for TMX3 Gene