• Gene id: 79850

Gene Summary

• Gene Symbol: TLCD3A   Gene   UCSC   Ensembl
• Aliases: CT120, FAM57A
• Gene name: TLC domain containing 3A
• Alternate names: TLC domain-containing protein 3A, family with sequence similarity 57 member A, membrane protein expressed in epithelial-like lung adenocarcinoma, protein FAM57A,
• Gene location: 17p13.3 (732545: 742967)     Exons: 5     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2)
• OMIM: 611627

SNPs

rs12088543

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.84252300T>C
NC_000001.10   g.84717983T>C|SEQ=[T/C]|GENE=LOC107985046

Protein Summary

• Protein general information: Q8TBR7  
  • Name: TLC domain containing protein 3A (Protein CT120) (Protein FAM57A)
  • Length: 257  
  • Mass: 29383
  • Tissue specificity: Highly expressed in pancreas. Detected at intermediate levels in heart, placenta and kidney, and at low levels in brain, liver and skeletal muscle. Not detected in normal lung. {ECO
• Sequence:

  MLLTLAGGALFFPGLFALCTWALRRSQPGWSRTDCVMISTRLVSSVHAVLATGSGIVIIRSCDDVITGRHWLARE
  YVWFLIPYMIYDSYAMYLCEWCRTRDQNRAPSLTLRNFLSRNRLMITHHAVILFVLVPVAQRLRGDLGDFFVGCI
  FTAELSTPFVSLGRVLIQLKQQHTLLYKVNGILTLATFLSCRILLFPFMYWSYGRQQGLSLLQVPFSIPFYCNVA
  NAFLVAPQIYWFCLLCRKAVRLFDTPQAKKDG

• Structural information:
  • Protein Domains: (33..24-)
    (/note="TLC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00205"-)
  • Interpro: IPR006634  
  • Prosite: PS50922
  • STRING: ENSP00000312017
• Other Databases: GeneCards:  TLCD3A  Malacards:  TLCD3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
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)