• Gene id: 80704

Gene Summary

• Gene Symbol: SLC19A3   Gene   UCSC   Ensembl
• Aliases: BBGD, THMD2, THTR2, thTr-2
• Gene name: solute carrier family 19 member 3
• Alternate names: thiamine transporter 2, solute carrier family 19 (thiamine transporter), member 3,
• Gene location: 2q36.3 (227718029: 227683762)     Exons: 10     NC_000002.12
• Gene summary(Entrez): This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses t
• OMIM: 606152

Protein Summary

• Protein general information: Q9BZV2  
  • Name: Thiamine transporter 2 (ThTr 2) (ThTr2) (Solute carrier family 19 member 3)
  • Length: 496  
  • Mass: 55665
  • Tissue specificity: Widely expressed but most abundant in placenta, kidney and liver. {ECO
• Sequence:

  MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPVFVLTD
  YVRYKPVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAA
  YTAGSVLAQLLVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEA
  PGCEEQKPTSEILSTSGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQ
  ILWDYKAPSQDSSIYNGAVEAIATFGGAVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAG
  YLIFKSSYMLLITIAVFQIAVNLNVERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIA
  GIFLMRSMYITYSTKSQKDVQSPAPSENPDVSHPEEESNIIMSTKL

• Structural information:
  • Interpro: IPR002666  IPR036259  IPR028337  
  • STRING: ENSP00000258403
• Other Databases: GeneCards:  SLC19A3  Malacards:  SLC19A3

Gene ontology

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

KEGG pathways

Pathway id	Pathway name
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Biotin-responsive basal ganglia disease	KEGG:H01231
Biotin-responsive basal ganglia disease	KEGG:H01231
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)