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 endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hyp... See more...

Aliases for TXNDC5 Gene

Aliases for TXNDC5 Gene

  • Thioredoxin Domain Containing 5 2 3 5
  • Protein Disulfide Isomerase Family A, Member 15 2 3
  • Endoplasmic Reticulum Resident Protein 46 3 4
  • Thioredoxin Domain-Containing Protein 5 3 4
  • Thioredoxin-Like Protein P46 3 4
  • ER Protein 46 3 4
  • PDIA15 2 3
  • ERp46 2 4
  • Thioredoxin Domain Containing 5 (Endoplasmic Reticulum) 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Endothelial Protein Disulphide Isomerase 3
  • Endoplasmic Reticulum Protein ERp46 3
  • Thioredoxin Related Protein 3
  • FLJ21353 2
  • FLJ90810 2
  • ENDOPDI 3
  • MGC3178 2
  • EndoPDI 2
  • UNQ364 3
  • TXNDC5 5
  • ERP46 3
  • HCC-2 3
  • STRF8 3
  • Hcc-2 2
  • TLP46 4
  • HCC2 3

External Ids for TXNDC5 Gene

Previous GeneCards Identifiers for TXNDC5 Gene

  • GC06M007871
  • GC06M007826
  • GC06M007892

Summaries for TXNDC5 Gene

Entrez Gene Summary for TXNDC5 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 endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]

GeneCards Summary for TXNDC5 Gene

TXNDC5 (Thioredoxin Domain Containing 5) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Innate Immune System. Gene Ontology (GO) annotations related to this gene include isomerase activity and protein disulfide isomerase activity. An important paralog of this gene is PDIA4.

UniProtKB/Swiss-Prot Summary for TXNDC5 Gene

  • Possesses thioredoxin activity. Has been shown to reduce insulin disulfide bonds. Also complements protein disulfide-isomerase deficiency in yeast (By similarity).

Gene Wiki entry for TXNDC5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TXNDC5 Gene

Genomics for TXNDC5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TXNDC5 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
GH06J007908 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 277.5 +0.8 782 4 CHD2 TBP ZBTB10 MXD4 MNT SMAD5 ZFP64 BHLHE40 NONO ZIC2 TXNDC5 HSALNG0047916 BLOC1S5 RIOK1 SLC35B3 ENSG00000238221 SNRNP48 SSR1 BMP6 RREB1
GH06J007904 Promoter/Enhancer 1 EPDnew Ensembl dbSUPER 260.6 +5.4 5358 1.7 RBM22 HNF4A JUNB POLR2A RXRA RBFOX2 ZNF121 NFIC ZNF600 TXNDC5 piR-47025 BLOC1S5-TXNDC5 BMP6
GH06J007912 Enhancer 0.9 ENCODE dbSUPER 250.7 -1.5 -1495 0.2 CEBPA SMAD4 SAP130 RXRA RARA ZBTB33 BCL6 JUND SOX5 HNF4A HSALNG0047916 TXNDC5 BMP6 BLOC1S5 piR-59297-557 BLOC1S5-TXNDC5
GH06J007895 Promoter/Enhancer 0.7 EPDnew dbSUPER 250.4 +15.7 15664 0.1 POLR2A RBFOX2 TXNDC5 piR-47025 BLOC1S5-TXNDC5 BMP6
GH06J007884 Promoter 0.3 EPDnew 250.3 +26.4 26353 0.1 piR-47025 piR-48509 TXNDC5 BMP6 BLOC1S5 BLOC1S5-TXNDC5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TXNDC5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TXNDC5

Top Transcription factor binding sites by QIAGEN in the TXNDC5 gene promoter:
  • E4BP4
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3

Genomic Locations for TXNDC5 Gene

Latest Assembly
chr6:7,881,517-7,910,788
(GRCh38/hg38)
Size:
29,272 bases
Orientation:
Minus strand

Previous Assembly
chr6:7,881,750-7,911,021
(GRCh37/hg19 by Entrez Gene)
Size:
29,272 bases
Orientation:
Minus strand

chr6:7,881,483-8,026,646
(GRCh37/hg19 by Ensembl)
Size:
145,164 bases
Orientation:
Minus strand

Genomic View for TXNDC5 Gene

Genes around TXNDC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TXNDC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TXNDC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TXNDC5 Gene

Proteins for TXNDC5 Gene

  • Protein details for TXNDC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBS9-TXND5_HUMAN
    Recommended name:
    Thioredoxin domain-containing protein 5
    Protein Accession:
    Q8NBS9
    Secondary Accessions:
    • B2RDM2
    • Q5TCQ0
    • Q8ND33
    • Q8TCT2
    • Q9BVH9

    Protein attributes for TXNDC5 Gene

    Size:
    432 amino acids
    Molecular mass:
    47629 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH01199.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TXNDC5 Gene

    Alternative splice isoforms for TXNDC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TXNDC5 Gene

Post-translational modifications for TXNDC5 Gene

  • Glycosylation at Thr72
  • Ubiquitination at Lys150 and Lys113
  • Modification sites at PhosphoSitePlus

Other Protein References for TXNDC5 Gene

Antibodies for research

  • Abcam antibodies for TXNDC5

No data available for DME Specific Peptides for TXNDC5 Gene

Domains & Families for TXNDC5 Gene

Gene Families for TXNDC5 Gene

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

Protein Domains for TXNDC5 Gene

InterPro:
Blocks:
  • Thioredoxin type domain
ProtoNet:

Suggested Antigen Peptide Sequences for TXNDC5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96678, Homo sapiens thioredoxin domain containing 5 (TXNDC5), mRNA (B2RDM2_HUMAN)
  • Thioredoxin-like protein p46 (TXND5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NBS9

UniProtKB/Swiss-Prot:

TXND5_HUMAN :
  • Belongs to the protein disulfide isomerase family.
Family:
  • Belongs to the protein disulfide isomerase family.
genes like me logo Genes that share domains with TXNDC5: view

Function for TXNDC5 Gene

Molecular function for TXNDC5 Gene

UniProtKB/Swiss-Prot Function:
Possesses thioredoxin activity. Has been shown to reduce insulin disulfide bonds. Also complements protein disulfide-isomerase deficiency in yeast (By similarity).

Phenotypes From GWAS Catalog for TXNDC5 Gene

Gene Ontology (GO) - Molecular Function for TXNDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IEA --
GO:0005515 protein binding IPI 21057456
genes like me logo Genes that share ontologies with TXNDC5: view
genes like me logo Genes that share phenotypes with TXNDC5: view

Animal Models for TXNDC5 Gene

MGI Knock Outs for TXNDC5:
  • Txndc5 Txndc5<tm1.1(KOMP)Vlcg>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNDC5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TXNDC5 Gene

Localization for TXNDC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TXNDC5 Gene

Endoplasmic reticulum lumen.

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 TXNDC5 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 4
lysosome 4
cytosol 3
plasma membrane 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TXNDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005783 endoplasmic reticulum TAS 16130169
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0035578 azurophil granule lumen TAS --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with TXNDC5: view

Pathways & Interactions for TXNDC5 Gene

genes like me logo Genes that share pathways with TXNDC5: view

Gene Ontology (GO) - Biological Process for TXNDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018215 protein phosphopantetheinylation IEA --
GO:0043066 negative regulation of apoptotic process TAS 16130169
GO:0043277 apoptotic cell clearance IBA 21873635
GO:0043312 neutrophil degranulation TAS --
GO:0045454 cell redox homeostasis IEA --
genes like me logo Genes that share ontologies with TXNDC5: view

No data available for SIGNOR curated interactions for TXNDC5 Gene

Drugs & Compounds for TXNDC5 Gene

No Compound Related Data Available

Transcripts for TXNDC5 Gene

mRNA/cDNA for TXNDC5 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNDC5

Alternative Splicing Database (ASD) splice patterns (SP) for TXNDC5 Gene

No ASD Table

Relevant External Links for TXNDC5 Gene

GeneLoc Exon Structure for
TXNDC5

Expression for TXNDC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TXNDC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TXNDC5 Gene

This gene is overexpressed in Oral epithelium (11.3) and Tonsil (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TXNDC5 Gene



Protein tissue co-expression partners for TXNDC5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TXNDC5

SOURCE GeneReport for Unigene cluster for TXNDC5 Gene:

Hs.150837

Evidence on tissue expression from TISSUES for TXNDC5 Gene

  • Lung(4.8)
  • Liver(4.7)
  • Eye(4.6)
  • Lymph node(4.5)
  • Skin(4.5)
  • Intestine(4.2)
  • Nervous system(3.6)
  • Pancreas(3.6)
  • Kidney(3.5)
  • Heart(2.9)
  • Blood(2.9)
  • Stomach(2.7)
  • Bone(2.7)
  • Bone marrow(2.4)
  • Spleen(2.3)
genes like me logo Genes that share expression patterns with TXNDC5: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TXNDC5 Gene

Orthologs for TXNDC5 Gene

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

Orthologs for TXNDC5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TXNDC5 30 31
  • 99.44 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Txndc5 30 17 31
  • 86.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TXNDC5 30 31
  • 85.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Txndc5 30
  • 85.83 (n)
Cow
(Bos Taurus)
Mammalia TXNDC5 30 31
  • 85.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TXNDC5 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TXNDC5 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TXNDC5 30 31
  • 74.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TXNDC5 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia txndc5 30
  • 67.91 (n)
MGC75894 30
Zebrafish
(Danio rerio)
Actinopterygii txndc5 30 31
  • 66.25 (n)
OneToOne
Dr.25420 30
Fruit Fly
(Drosophila melanogaster)
Insecta prtp 30 31
  • 54.83 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000044 30
  • 53.96 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPD1 31
  • 19 (a)
OneToMany
EPS1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2468 30
Species where no ortholog for TXNDC5 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for TXNDC5 Gene

ENSEMBL:
Gene Tree for TXNDC5 (if available)
TreeFam:
Gene Tree for TXNDC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TXNDC5: view image

Paralogs for TXNDC5 Gene

Paralogs for TXNDC5 Gene

(4) SIMAP similar genes for TXNDC5 Gene using alignment to 2 proteins:

  • TXND5_HUMAN
  • Q86UY0_HUMAN
genes like me logo Genes that share paralogs with TXNDC5: view

Variants for TXNDC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TXNDC5 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs111331197 Benign: not provided 7,883,235(-) C/T
NM_030810.5(TXNDC5):c.1208G>A (p.Arg403Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TXNDC5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TXNDC5 Gene

Variant ID Type Subtype PubMed ID
esv2731544 CNV deletion 23290073
esv3890787 CNV loss 25118596
nsv1133014 OTHER inversion 24896259
nsv1145091 CNV deletion 24896259
nsv1151332 OTHER inversion 26484159
nsv462625 CNV loss 19166990
nsv600924 CNV gain 21841781
nsv600925 CNV loss 21841781
nsv830582 CNV loss 17160897

Variation tolerance for TXNDC5 Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.40; 42.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TXNDC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TXNDC5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TXNDC5 Gene

Disorders for TXNDC5 Gene

Additional Disease Information for TXNDC5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for TXNDC5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TXNDC5 Gene

Publications for TXNDC5 Gene

  1. Association of TXNDC5 gene polymorphisms and susceptibility to nonsegmental vitiligo in the Korean population. (PMID: 19906073) Jeong KH … Lee MH (The British journal of dermatology 2010) 3 23 41
  2. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So HC … Sham PC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
  3. Protein disulphide isomerase family members show distinct substrate specificity: P5 is targeted to BiP client proteins. (PMID: 19887585) Jessop CE … Bulleid NJ (Journal of cell science 2009) 3 23
  4. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 41
  5. Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p. (PMID: 19694819) Lin SH … Chen WJ (Genes, brain, and behavior 2009) 3 41

Products for TXNDC5 Gene

Sources for TXNDC5 Gene