• Gene id: 51060

Gene Summary

• Gene Symbol: TXNDC12   Gene   UCSC   Ensembl
• Aliases: AG1, AGR1, ERP16, ERP18, ERP19, PDIA16, TLP19, hAG-1, hTLP19
• Gene name: thioredoxin domain containing 12
• Alternate names: thioredoxin domain-containing protein 12, ER protein 18, ER protein 19, anterior gradient homolog 1, endoplasmic reticulum protein ERp19, endoplasmic reticulum resident protein 18, endoplasmic reticulum resident protein 19, endoplasmic reticulum thioredoxin supe,
• Gene location: 1p32.3 (52056170: 52020130)     Exons: 8     NC_000001.11
• Gene summary(Entrez): 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 endoplasmi
• OMIM: 609448

Protein Summary

• Protein general information: O95881  
  • Name: Thioredoxin domain containing protein 12 (EC 1.8.4.2) (Endoplasmic reticulum resident protein 18) (ER protein 18) (ERp18) (Endoplasmic reticulum resident protein 19) (ER protein 19) (ERp19) (Thioredoxin like protein p19) (hTLP19)
  • Length: 172  
  • Mass: 19206
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  METRPRLGATCLLGFSFLLLVISSDGHNGLGKGFGDHIHWRTLEDGKKEAAASGLPLMVIIHKSWCGACKALKPK
  FAESTEISELSHNFVMVNLEDEEEPKDEDFSPDGGYIPRILFLDPSGKVHPEIINENGNPSYKYFYVSAEQVVQG
  MKEAQERLTGDAFRKKHLEDEL

• Structural information:
  • Protein Domains: (27..15-)
    (/note="Thioredoxin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691"-)
  • Interpro: IPR037462  IPR036249  IPR017937  IPR013766  
  • Prosite: PS00194 PS51352
  • CDD: cd02959
  • PDB: 1SEN 2K8V
  • PDBsum: 1SEN 2K8V
  • STRING: ENSP00000360688
• Other Databases: GeneCards:  TXNDC12  Malacards:  TXNDC12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0060548	negative regulation of cell death	IBA	biological process
GO:0015037	peptide disulfide oxidoreductase activity	IBA	molecular function
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0019153	protein-disulfide reductase (glutathione) activity	IEA	molecular function
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	biological process
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0015037	peptide disulfide oxidoreductase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00480	Glutathione metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881