• Gene id: 114134

Gene Summary

• Gene Symbol: SLC2A13   Gene   UCSC   Ensembl
• Aliases: HMIT
• Gene name: solute carrier family 2 member 13
• Alternate names: proton myo-inositol cotransporter, H(+)-myo-inositol symporter, h(+)-myo-inositol cotransporter, proton (H+) myo-inositol symporter, solute carrier family 2 (facilitated glucose transporter), member 13,
• Gene location: 12q12 (40106084: 39755020)     Exons: 10     NC_000012.12
• OMIM: 611036

Protein Summary

• Protein general information: Q96QE2  
  • Name: Proton myo inositol cotransporter (H(+) myo inositol cotransporter) (Hmit) (H(+) myo inositol symporter) (Solute carrier family 2 member 13)
  • Length: 648  
  • Mass: 70371
  • Tissue specificity: Predominantly expressed in the brain. {ECO
• Sequence:

  MSRKASENVEYTLRSLSSLMGERRRKQPEPDAASAAGECSLLAAAESSTSLQSAGAGGGGVGDLERAARRQFQQD
  ETPAFVYVVAVFSALGGFLFGYDTGVVSGAMLLLKRQLSLDALWQELLVSSTVGAAAVSALAGGALNGVFGRRAA
  ILLASALFTAGSAVLAAANNKETLLAGRLVVGLGIGIASMTVPVYIAEVSPPNLRGRLVTINTLFITGGQFFASV
  VDGAFSYLQKDGWRYMLGLAAVPAVIQFFGFLFLPESPRWLIQKGQTQKARRILSQMRGNQTIDEEYDSIKNNIE
  EEEKEVGSAGPVICRMLSYPPTRRALIVGCGLQMFQQLSGINTIMYYSATILQMSGVEDDRLAIWLASVTAFTNF
  IFTLVGVWLVEKVGRRKLTFGSLAGTTVALIILALGFVLSAQVSPRITFKPIAPSGQNATCTRYSYCNECMLDPD
  CGFCYKMNKSTVIDSSCVPVNKASTNEAAWGRCENETKFKTEDIFWAYNFCPTPYSWTALLGLILYLVFFAPGMG
  PMPWTVNSEIYPLWARSTGNACSSGINWIFNVLVSLTFLHTAEYLTYYGAFFLYAGFAAVGLLFIYGCLPETKGK
  KLEEIESLFDNRLCTCGTSDSDEGRYIEYIRVKGSNYHLSDNDASDVE

• Structural information:
  • Interpro: IPR020846  IPR005828  IPR036259  IPR003663  IPR005829  
  • Prosite: PS50850 PS00216 PS00217
  • STRING: ENSP00000280871
• Other Databases: GeneCards:  SLC2A13  Malacards:  SLC2A13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071944	cell periphery	IDA	cellular component
GO:0042995	cell projection	IDA	cellular component
GO:0002020	protease binding	ISS	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0005365	myo-inositol transmembrane transporter activity	ISS	molecular function
GO:0044297	cell body	IDA	cellular component
GO:0051117	ATPase binding	IPI	molecular function
GO:0071944	cell periphery	ISS	cellular component
GO:0008021	synaptic vesicle	ISS	NOT|cellular component
GO:0005764	lysosome	ISS	NOT|cellular component
GO:0044297	cell body	ISS	cellular component
GO:0043231	intracellular membrane-bounded organelle	ISS	cellular component
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:1902004	positive regulation of amyloid-beta formation	IGI	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0015798	myo-inositol transport	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005769	early endosome	ISS	NOT|cellular component
GO:0016020	membrane	ISS	cellular component
GO:0030426	growth cone	ISS	cellular component
GO:0031090	organelle membrane	ISS	cellular component
GO:0097450	astrocyte end-foot	ISS	cellular component
GO:0046323	glucose import	IBA	biological process
GO:0005366	myo-inositol:proton symporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0015798	myo-inositol transport	IDA	biological process
GO:0005366	myo-inositol:proton symporter activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
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	TAS	cellular component
GO:0005366	myo-inositol:proton symporter activity	TAS	molecular function
GO:0015798	myo-inositol transport	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:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)