• Gene id: 387700

Gene Summary

• Gene Symbol: SLC16A12   Gene   UCSC   Ensembl
• Aliases: CJMG, CRT2, CTRCT47, MCT12
• Gene name: solute carrier family 16 member 12
• Alternate names: monocarboxylate transporter 12, creatine transporter 2, monocarboxylic acid transporter 12,
• Gene location: 10q23.31 (89536028: 89430298)     Exons: 9     NC_000010.11
• Gene summary(Entrez): This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]

Protein Summary

• Protein general information: Q6ZSM3  
  • Name: Monocarboxylate transporter 12 (MCT 12) (Creatine transporter 2) (CRT2) (Solute carrier family 16 member 12)
  • Length: 516  
  • Mass: 56498
  • Tissue specificity: Most highly expressed in kidney, followed by retina, lung, heart and testis. Very weakly expressed in brain and liver. Also detected in lens. {ECO
• Sequence:

  MPSGSHWTANSSKIITWLLEQPGKEEKRKTMAKVNRARSTSPPDGGWGWMIVAGCFLVTICTRAVTRCISIFFVE
  FQTYFTQDYAQTAWIHSIVDCVTMLCAPLGSVVSNHLSCQVGIMLGGLLASTGLILSSFATSLKHLYLTLGVLTG
  LGFALCYSPAIAMVGKYFSRRKALAYGIAMSGSGIGTFILAPVVQLLIEQFSWRGALLILGGFVLNLCVCGALMR
  PITLKEDHTTPEQNHVCRTQKEDIKRVSPYSSLTKEWAQTCLCCCLQQEYSFLLMSDFVVLAVSVLFMAYGCSPL
  FVYLVPYALSVGVSHQQAAFLMSILGVIDIIGNITFGWLTDRRCLKNYQYVCYLFAVGMDGLCYLCLPMLQSLPL
  LVPFSCTFGYFDGAYVTLIPVVTTEIVGTTSLSSALGVVYFLHAVPYLVSPPIAGRLVDTTGSYTAAFLLCGFSM
  IFSSVLLGFARLIKRMRKTQLQFIAKESDPKLQLWTNGSVAYSVARELDQKHGEPVATAVPGYSLT

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000360855
• Other Databases: GeneCards:  SLC16A12  Malacards:  SLC16A12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005308	creatine transmembrane transporter activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0015881	creatine transmembrane transport	IDA	biological process
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0015718	monocarboxylic acid transport	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0008028	monocarboxylic acid transmembrane transporter activity	IBA	molecular function
GO:0005308	creatine transmembrane transporter activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0015881	creatine transmembrane transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
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:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Cataract	KEGG:H01202
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