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Aliases for TXNDC12 Gene

Aliases for TXNDC12 Gene

  • Thioredoxin Domain Containing 12 2 3 5
  • Endoplasmic Reticulum Thioredoxin Superfamily Member, 18 KDa 2 3
  • Thioredoxin Domain Containing 12 (Endoplasmic Reticulum) 2 3
  • Protein Disulfide Isomerase Family A, Member 16 2 3
  • Endoplasmic Reticulum Resident Protein 18 3 4
  • Endoplasmic Reticulum Resident Protein 19 3 4
  • Thioredoxin-Like Protein P19 3 4
  • ER Protein 18 3 4
  • ER Protein 19 3 4
  • HTLP19 3 4
  • TLP19 3 4
  • Anterior Gradient Homolog 1 (Xenopus Laevis) 2
  • Thioredoxin Domain-Containing Protein 12 3
  • Endoplasmic Reticulum Protein ERp19 3
  • Anterior Gradient Homolog 1 3
  • EC 1.8.4.2 4
  • PDIA16 3
  • ERP16 3
  • ERP18 3
  • ERP19 3
  • HAG-1 3
  • ERp18 4
  • ERp19 4
  • AGR1 3
  • AG1 3

External Ids for TXNDC12 Gene

Previous GeneCards Identifiers for TXNDC12 Gene

  • GC01M052199
  • GC01M052485
  • GC01M050603

Summaries for TXNDC12 Gene

Entrez Gene Summary for TXNDC12 Gene

  • This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]

GeneCards Summary for TXNDC12 Gene

TXNDC12 (Thioredoxin Domain Containing 12) is a Protein Coding gene. Among its related pathways are Glutathione metabolism. Gene Ontology (GO) annotations related to this gene include protein-disulfide reductase (glutathione) activity. An important paralog of this gene is AGR3.

UniProtKB/Swiss-Prot for TXNDC12 Gene

  • Possesses significant protein thiol-disulfide oxidase activity.

Gene Wiki entry for TXNDC12 Gene

Additional gene information for TXNDC12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TXNDC12 Gene

Genomics for TXNDC12 Gene

GeneHancer (GH) Regulatory Elements for TXNDC12 Gene

Promoters and enhancers for TXNDC12 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
GH01J052053 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 660.2 +0.3 342 4.4 CLOCK MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SSRP1 TXNDC12 PIR60864 GC01M052055 BTF3L4 KTI12 LOC100190934 PRPF38A ENSG00000230953 TUT4 ENSG00000223390
GH01J051874 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +178.7 178704 5.3 CLOCK MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC NRDC ENSG00000266993 TUT4 PRPF38A KTI12 SLC25A6P3 GAPDHP51 TXNDC12-AS1 CC2D1B TXNDC12
GH01J052402 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.2 -348.1 -348111 3.2 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 PRPF38A ORC1 MAGOH KTI12 ENSG00000266993 TXNDC12 PLA2G12AP1
GH01J051728 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.2 +326.3 326265 3.4 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 POLR2B CBX5 OSBPL9 GC01P051732 GC01P051733 ENSG00000266993 PRPF38A TXNDC12 TUT4 NRDC GPX7 KTI12
GH01J052032 Promoter/Enhancer 1.6 Ensembl ENCODE 11.9 +22.8 22775 2.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 KTI12 ENSG00000223390 TUT4 PRPF38A ENSG00000266993 CC2D1B BTF3L4 TXNDC12 ENSG00000272100 ORC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TXNDC12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TXNDC12 gene promoter:
  • RFX1
  • c-Myb
  • IRF-1
  • Elk-1
  • HOXA3
  • AML1a
  • IRF-2
  • Sox9
  • FOXJ2

Genomic Locations for TXNDC12 Gene

Genomic Locations for TXNDC12 Gene
chr1:52,020,131-52,056,171
(GRCh38/hg38)
Size:
36,041 bases
Orientation:
Minus strand
chr1:52,485,803-52,521,843
(GRCh37/hg19)
Size:
36,041 bases
Orientation:
Minus strand

Genomic View for TXNDC12 Gene

Genes around TXNDC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TXNDC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TXNDC12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TXNDC12 Gene

Proteins for TXNDC12 Gene

  • Protein details for TXNDC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95881-TXD12_HUMAN
    Recommended name:
    Thioredoxin domain-containing protein 12
    Protein Accession:
    O95881
    Secondary Accessions:
    • B3KQS0
    • Q5T1T4
    • Q96H50

    Protein attributes for TXNDC12 Gene

    Size:
    172 amino acids
    Molecular mass:
    19206 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TXNDC12 Gene

neXtProt entry for TXNDC12 Gene

Post-translational modifications for TXNDC12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TXNDC12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TXNDC12 Gene

Domains & Families for TXNDC12 Gene

Gene Families for TXNDC12 Gene

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

Protein Domains for TXNDC12 Gene

Suggested Antigen Peptide Sequences for TXNDC12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TXNDC12: view

No data available for UniProtKB/Swiss-Prot for TXNDC12 Gene

Function for TXNDC12 Gene

Molecular function for TXNDC12 Gene

UniProtKB/Swiss-Prot Function:
Possesses significant protein thiol-disulfide oxidase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
2 glutathione + protein-disulfide = glutathione disulfide + protein-dithiol.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=25 uM for Asn-Arg-Cys-Ser-Gln-Gly-Ser-Cys-Trp-Asn; pH dependence: Optimum pH is 6.5.;

Enzyme Numbers (IUBMB) for TXNDC12 Gene

Gene Ontology (GO) - Molecular Function for TXNDC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0015037 peptide disulfide oxidoreductase activity IDA 18628206
GO:0016491 oxidoreductase activity IEA --
GO:0019153 protein-disulfide reductase (glutathione) activity IEA --
genes like me logo Genes that share ontologies with TXNDC12: view
genes like me logo Genes that share phenotypes with TXNDC12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TXNDC12

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNDC12

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TXNDC12 Gene

Localization for TXNDC12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TXNDC12 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 TXNDC12 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3

Gene Ontology (GO) - Cellular Components for TXNDC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IEA --
GO:0005788 endoplasmic reticulum lumen IDA 18628206
genes like me logo Genes that share ontologies with TXNDC12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TXNDC12 Gene

Pathways & Interactions for TXNDC12 Gene

SuperPathways for TXNDC12 Gene

SuperPathway Contained pathways
1 Glutathione metabolism
genes like me logo Genes that share pathways with TXNDC12: view

Pathways by source for TXNDC12 Gene

1 KEGG pathway for TXNDC12 Gene

Gene Ontology (GO) - Biological Process for TXNDC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IBA --
GO:0045454 cell redox homeostasis IEA --
GO:0055114 oxidation-reduction process IEA --
GO:0060548 negative regulation of cell death IBA --
GO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA 18628206
genes like me logo Genes that share ontologies with TXNDC12: view

No data available for SIGNOR curated interactions for TXNDC12 Gene

Drugs & Compounds for TXNDC12 Gene

(2) Drugs for TXNDC12 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved, Investigational Nutra Target 0
Oxidized glutathione Approved, Experimental, Investigational Pharma 0
genes like me logo Genes that share compounds with TXNDC12: view

Transcripts for TXNDC12 Gene

mRNA/cDNA for TXNDC12 Gene

Unigene Clusters for TXNDC12 Gene

Thioredoxin domain containing 12 (endoplasmic reticulum):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNDC12

Alternative Splicing Database (ASD) splice patterns (SP) for TXNDC12 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11
SP1: - - - - - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5: -
SP6:

Relevant External Links for TXNDC12 Gene

GeneLoc Exon Structure for
TXNDC12
ECgene alternative splicing isoforms for
TXNDC12

Expression for TXNDC12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TXNDC12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TXNDC12 Gene

This gene is overexpressed in Oral epithelium (11.9) and Bone (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TXNDC12 Gene



Protein tissue co-expression partners for TXNDC12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TXNDC12 Gene:

TXNDC12

SOURCE GeneReport for Unigene cluster for TXNDC12 Gene:

Hs.476033

mRNA Expression by UniProt/SwissProt for TXNDC12 Gene:

O95881-TXD12_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TXNDC12 Gene

  • Nervous system(4.9)
  • Intestine(4.4)
  • Liver(4.3)
  • Kidney(4.2)
  • Skin(2.8)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with TXNDC12: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TXNDC12 Gene

Orthologs for TXNDC12 Gene

This gene was present in the common ancestor of animals.

Orthologs for TXNDC12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TXNDC12 34 33
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TXNDC12 34 33
  • 94.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TXNDC12 34
  • 94 (a)
OneToOne
LOC609843 33
  • 92.25 (n)
mouse
(Mus musculus)
Mammalia Txndc12 16 34 33
  • 89.62 (n)
rat
(Rattus norvegicus)
Mammalia Txndc12 33
  • 89.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TXNDC12 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TXNDC12 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves TXNDC12 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TXNDC12 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia txndc12 33
  • 70.68 (n)
zebrafish
(Danio rerio)
Actinopterygii txndc12 34 33
  • 75.23 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y57A10A.23 33
  • 54.04 (n)
Y57A10A.23 34
  • 35 (a)
ManyToMany
F49H12.5 34
  • 25 (a)
ManyToMany
Species where no ortholog for TXNDC12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 TXNDC12 Gene

ENSEMBL:
Gene Tree for TXNDC12 (if available)
TreeFam:
Gene Tree for TXNDC12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TXNDC12: view image

Paralogs for TXNDC12 Gene

Paralogs for TXNDC12 Gene

(2) SIMAP similar genes for TXNDC12 Gene using alignment to 3 proteins:

  • TXD12_HUMAN
  • V9GY50_HUMAN
  • V9GYV4_HUMAN
genes like me logo Genes that share paralogs with TXNDC12: view

Variants for TXNDC12 Gene

Sequence variations from dbSNP and Humsavar for TXNDC12 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000100415 -- 52,031,317(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000135208 -- 52,042,344(-) G/A intron_variant
rs1000169168 -- 52,037,205(-) A/C intron_variant
rs1000206401 -- 52,056,239(-) G/C upstream_transcript_variant
rs1000322937 -- 52,056,435(-) C/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TXNDC12 Gene

Variant ID Type Subtype PubMed ID
nsv1004103 CNV loss 25217958
nsv829848 CNV loss 17160897

Variation tolerance for TXNDC12 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.01; 60.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TXNDC12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TXNDC12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TXNDC12 Gene

Disorders for TXNDC12 Gene

Additional Disease Information for TXNDC12

No disorders were found for TXNDC12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TXNDC12 Gene

Publications for TXNDC12 Gene

  1. Solution structure and dynamics of ERp18, a small endoplasmic reticulum resident oxidoreductase . (PMID: 19361226) Rowe ML … Howard MJ (Biochemistry 2009) 3 4 22 58
  2. Isolation and characterization of a novel human thioredoxin-like gene hTLP19 encoding a secretory protein. (PMID: 14557066) Liu F … Han ZG (Gene 2003) 3 4 22 58
  3. Functional characterization of ERp18, a new endoplasmic reticulum-located thioredoxin superfamily member. (PMID: 12761212) Alanen HI … Ruddock LW (The Journal of biological chemistry 2003) 3 4 22 58
  4. 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 22 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for TXNDC12 Gene

Sources for TXNDC12 Gene

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