• Gene id: 10560

Gene Summary

• Gene Symbol: SLC19A2   Gene   UCSC   Ensembl
• Aliases: TC1, THMD1, THT1, THTR1, TRMA
• Gene name: solute carrier family 19 member 2
• Alternate names: thiamine transporter 1, high affinity thiamine transporter, reduced folate carrier protein (RFC) like, solute carrier family 19 (thiamine transporter), member 2, thTr-1,
• Gene location: 1q24.2 (169485969: 169463908)     Exons: 6     NC_000001.11
• Gene summary(Entrez): This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural de
• OMIM: 608302

Protein Summary

• Protein general information: O60779  
  • Name: Thiamine transporter 1 (ThTr 1) (ThTr1) (Solute carrier family 19 member 2) (Thiamine carrier 1) (TC1)
  • Length: 497  
  • Mass: 55400
  • Tissue specificity: Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung. {ECO
• Sequence:

  MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGPDKNLTEREVFNEIYP
  VWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQGLLAIQFLEFFYGIATATEIAYYSYIYSVVD
  LGMYQKVTSYCRSATLVGFTVGSVLGQILVSVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQ
  RVNGIKVQNGGIVTDTPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSV
  WWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWSTWGEMTLSLFSLLIAA
  AVYIMDTVGNIWVCYASYVVFRIIYMLLITIATFQIAANLSMERYALVFGVNTFIALALQTLLTLIVVDASGLGL
  EITTQFLIYASYFALIAVVFLASGAVSVMKKCRKLEDPQSSSQVTTS

• Structural information:
  • Interpro: IPR002666  IPR036259  IPR028338  
  • STRING: ENSP00000236137
• Other Databases: GeneCards:  SLC19A2  Malacards:  SLC19A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0015234	thiamine transmembrane transporter activity	IBA	molecular function
GO:0015888	thiamine transport	IBA	biological process
GO:0055085	transmembrane transport	IBA	biological process
GO:0090482	vitamin transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0051180	vitamin transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0042723	thiamine-containing compound metabolic process	TAS	biological process
GO:0071934	thiamine transmembrane transport	IEA	biological process
GO:0015888	thiamine transport	IEA	biological process
GO:0015234	thiamine transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0015234	thiamine transmembrane transporter activity	ISS	molecular function
GO:0071934	thiamine transmembrane transport	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015884	folic acid transport	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0015234	thiamine transmembrane transporter activity	IDA	molecular function
GO:0015888	thiamine transport	NAS	biological process
GO:0008517	folic acid transmembrane transporter activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0015234	thiamine transmembrane transporter activity	TAS	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0015234	thiamine transmembrane transporter activity	IBA	molecular function
GO:0015888	thiamine transport	IBA	biological process
GO:0055085	transmembrane transport	IBA	biological process
GO:0090482	vitamin transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0051180	vitamin transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0042723	thiamine-containing compound metabolic process	TAS	biological process
GO:0071934	thiamine transmembrane transport	IEA	biological process
GO:0015888	thiamine transport	IEA	biological process
GO:0015234	thiamine transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0015234	thiamine transmembrane transporter activity	ISS	molecular function
GO:0071934	thiamine transmembrane transport	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015884	folic acid transport	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0015234	thiamine transmembrane transporter activity	IDA	molecular function
GO:0015888	thiamine transport	NAS	biological process
GO:0008517	folic acid transmembrane transporter activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0015234	thiamine transmembrane transporter activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Thiamine-responsive megaloblastic anemia	KEGG:H01183
Wernicke encephalopathy	KEGG:H01565
Thiamine-responsive megaloblastic anemia	KEGG:H01183
Wernicke encephalopathy	KEGG:H01565
Megaloblastic anemia	PMID:10391221
diabetes mellitus	PMID:10391221
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881