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Aliases for TXNDC5 Gene

Aliases for TXNDC5 Gene

  • Thioredoxin Domain Containing 5 2 3 5
  • Thioredoxin Domain Containing 5 (Endoplasmic Reticulum) 2 3
  • Protein Disulfide Isomerase Family A, Member 15 2 3
  • Endoplasmic Reticulum Resident Protein 46 3 4
  • Thioredoxin-Like Protein P46 3 4
  • ER Protein 46 3 4
  • ERP46 3 4
  • Endothelial Protein Disulphide Isomerase 3
  • Thioredoxin Domain-Containing Protein 5 3
  • Endoplasmic Reticulum Protein ERp46 3
  • Thioredoxin Related Protein 3
  • ENDOPDI 3
  • PDIA15 3
  • UNQ364 3
  • HCC-2 3
  • STRF8 3
  • TLP46 4
  • HCC2 3

External Ids for TXNDC5 Gene

Previous GeneCards Identifiers for TXNDC5 Gene

  • GC06M007871
  • GC06M007826

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 Clathrin derived vesicle budding and Innate Immune System. GO annotations related to this gene include isomerase activity and protein disulfide isomerase activity. An important paralog of this gene is DNAJC10.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for TXNDC5 Gene

Genomics for TXNDC5 Gene

Regulatory Elements for TXNDC5 Gene

Enhancers for TXNDC5 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
GH06G007908 1.6 Ensembl ENCODE dbSUPER 16.8 +0.5 508 3.4 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 RIOK1 TXNDC5 BMP6 BLOC1S5 LOC100506207 GC06P007902
GH06G007899 1.2 ENCODE dbSUPER 15.4 +11.1 11101 1.0 PKNOX1 ATF1 CREB3L1 ARNT YY1 TCF12 ZNF766 ELK1 GATA2 JUNB TXNDC5 BLOC1S5 GC06P007902 PIR41509
GH06G007882 1 ENCODE dbSUPER 17.2 +28.0 27969 1.0 ELF3 FOXA2 ZSCAN9 GATAD1 NR2F6 HOMEZ MAFK THAP11 GATAD2A SOX5 TXNDC5 BMP6 BLOC1S5 PIR41509 GC06P007902
GH06G007914 1.2 FANTOM5 ENCODE dbSUPER 10.8 -4.7 -4669 1.2 ZNF639 JUN MAX CEBPG GABPA SCRT2 FOXP2 FOS CREM MYC TXNDC5 BMP6 BLOC1S5 EEF1E1 SNRNP48 GC06M007933
GH06G007999 0.9 ENCODE dbSUPER 12.4 -89.6 -89596 1.9 ARID1B PKNOX1 GATA2 JUN TAL1 MAX FOS REST BLOC1S5 TXNDC5 BMP6 ENSG00000238221 PIR57650 PIR38170 GC06P007990
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TXNDC5 on UCSC Golden Path with GeneCards custom track

Promoters for TXNDC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000192851 514 1801 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for TXNDC5 Gene

Chromosome:
6
Start:
7,881,250 bp from pter
End:
7,910,814 bp from pter
Size:
29,565 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

  • Ubiquitination at Lys113 and Lys150
  • Glycosylation at posLast=7272
  • Modification sites at PhosphoSitePlus

Other Protein References for TXNDC5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TXNDC5 Gene

Domains & Families for TXNDC5 Gene

Gene Families for TXNDC5 Gene

Suggested Antigen Peptide Sequences for TXNDC5 Gene

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).

Gene Ontology (GO) - Molecular Function for TXNDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IBA --
GO:0005515 protein binding IPI 21057456
GO:0016853 isomerase activity IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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
extracellular 5
endoplasmic reticulum 5
lysosome 5
cytosol 3
plasma membrane 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TXNDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum TAS 16130169
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0035578 azurophil granule 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:0006457 protein folding IBA --
GO:0034976 response to endoplasmic reticulum stress IBA --
GO:0043066 negative regulation of apoptotic process TAS 16130169
GO:0043277 apoptotic cell clearance IBA --
GO:0043312 neutrophil degranulation TAS --
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

Unigene Clusters for TXNDC5 Gene

Thioredoxin domain containing 5 (endoplasmic reticulum):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for TXNDC5 Gene

GeneLoc Exon Structure for
TXNDC5
ECgene alternative splicing isoforms for
TXNDC5

Expression for TXNDC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TXNDC5 Gene



Protein tissue co-expression partners for TXNDC5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TXNDC5 Gene:

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(4.4)
  • Skin(4.3)
  • Intestine(4)
  • Pancreas(3.4)
  • Nervous system(3.3)
  • Kidney(3.1)
  • Heart(2.5)
  • Bone(2.3)
  • Blood(2.2)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with TXNDC5: view

Primer Products

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 34 35
  • 99.44 (n)
mouse
(Mus musculus)
Mammalia Txndc5 34 16 35
  • 86.81 (n)
dog
(Canis familiaris)
Mammalia TXNDC5 34 35
  • 85.91 (n)
rat
(Rattus norvegicus)
Mammalia Txndc5 34
  • 85.83 (n)
cow
(Bos Taurus)
Mammalia TXNDC5 34 35
  • 85.42 (n)
oppossum
(Monodelphis domestica)
Mammalia TXNDC5 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TXNDC5 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves TXNDC5 34 35
  • 74.53 (n)
lizard
(Anolis carolinensis)
Reptilia TXNDC5 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia txndc5 34
  • 67.91 (n)
MGC75894 34
zebrafish
(Danio rerio)
Actinopterygii txndc5 34 35
  • 66.25 (n)
Dr.25420 34
fruit fly
(Drosophila melanogaster)
Insecta prtp 34 35
  • 54.83 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000044 34
  • 53.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPD1 35
  • 19 (a)
OneToMany
EPS1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2468 34
Species where no ortholog for TXNDC5 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)
  • worm (Caenorhabditis elegans)

Evolution for TXNDC5 Gene

ENSEMBL:
Gene Tree for TXNDC5 (if available)
TreeFam:
Gene Tree for TXNDC5 (if available)

Paralogs for TXNDC5 Gene

Paralogs for TXNDC5 Gene

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

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

Variants for TXNDC5 Gene

Sequence variations from dbSNP and Humsavar for TXNDC5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000068689 -- 7,903,909(+) CAGGG(C/G)CAGTC intron-variant
rs1000137385 -- 7,893,124(+) ACAGC(A/G)TCATT intron-variant
rs1000328051 -- 7,892,554(+) TCATC(C/T)TGAAT intron-variant
rs1000436882 -- 7,887,730(+) AGCTG(C/T)CCACA intron-variant
rs1000476100 -- 7,908,934(+) TGAAA(C/T)AGTTG intron-variant

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)

Relevant External Links for TXNDC5 Gene

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

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

Disorders for TXNDC5 Gene

Relevant External Links for TXNDC5

Genetic Association Database (GAD)
TXNDC5
Human Genome Epidemiology (HuGE) Navigator
TXNDC5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TXNDC5

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 K.H. … Lee M.H. (Br. J. Dermatol. 2010) 3 22 46 64
  2. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So H.C. … Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  3. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 46 64
  4. Protein disulphide isomerase family members show distinct substrate specificity: P5 is targeted to BiP client proteins. (PMID: 19887585) Jessop C.E. … Bulleid N.J. (J. Cell. Sci. 2009) 3 22 64
  5. Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p. (PMID: 19694819) Lin S.H. … Chen W.J. (Genes Brain Behav. 2009) 3 46 64

Products for TXNDC5 Gene

Sources for TXNDC5 Gene

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