SLC5A11 (solute carrier family 5 member 11)

Gene

• Entrez ID: 115584
• Gene name: Solute carrier family 5 member 11
• Gene symbol: SLC5A11
• Synonyms (NCBI Gene): KST1, RKST1, SGLT6, SMIT2
• Chromosome: 16
• Chromosome location: 16p12.1
• Summary: Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2332165	hsa-miR-4694-3p	CLIP-seq
MIRT2332166	hsa-miR-4709-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005365	Function	Myo-inositol transmembrane transporter activity	IDA	19032932
GO:0005365	Function	Myo-inositol transmembrane transporter activity	IEA
GO:0005412	Function	D-glucose:sodium symporter activity	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008645	Process	Hexose transmembrane transport	IEA
GO:0015166	Function	Polyol transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0015791	Process	Polyol transmembrane transport	IEA
GO:0015798	Process	Myo-inositol transport	IDA	19032932
GO:0015798	Process	Myo-inositol transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0034219	Process	Carbohydrate transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	IEA

Other IDs

• MIM: 610238
• HGNC: 23091
• e!Ensembl: ENSG00000158865

Protein

• UniProt ID: Q8WWX8
• Protein name: Sodium/myo-inositol cotransporter 2 (Na(+)/myo-inositol cotransporter 2) (Sodium-dependent glucose cotransporter) (Sodium/glucose cotransporter KST1) (Sodium/myo-inositol transporter 2) (SMIT2) (Solute carrier family 5 member 11)
• Protein function: Involved in the sodium-dependent cotransport of myo-inositol (MI) with a Na(+):MI stoichiometry of 2:1 (PubMed:15172003, PubMed:19032932). Exclusively responsible for apical MI transport and absorption in intestine (By similarity). Can also tran
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00474	SSF	58 → 487	Sodium:solute symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in heart, skeletal muscle, kidney, liver and placenta. Weaker expression in brain, colon, spleen, lung and peripheral blood leukocytes. {ECO:0000269|PubMed:12039040}.
• Sequence:

  MESGTSSPQPPQLDPLDAFPQKGLEPGDIAVLVLYFLFVLAVGLWSTVKTKRDTVKGYFL
  AGGDMVWWPVGASLFASNVGSGHFIGLAGSGAATGISVSAYELNGLFSVLMLAWIFLPIY
  IAGQVTTMPEYLRKRFGGIRIPIILAVLYLFIYIFTKISVDMYAGAIFIQQSLHLDLYLA
  IVGLLAITAVYTVAGGLAAVIYTDALQTLIMLIGALTLMGYSFAAVGGMEGLKEKYFLAL
  ASNRSENSSCGLPREDAFHIFRDPLTSDLPWPGVLFGMSIPSLWYWCTDQVIVQRTLAAK
  NLSHAKGGALMAAYLKVLPLFIMVFPGMVSRILFPDQVACADPEICQKICSNPSGCSDIA
  YPKLVLELLPTGLRGLMMAVMVAALMSSLTSIFNSASTIFTMDLWNHLRPRASEKELMIV
  GRVFVLLLVLVSILWIPVVQASQGGQLFIYIQSISSYLQPPVAVVFIMGCFWKRTNEKGA
  FWGLISGLLLGLVRLVLDFIYVQPRCDQPDERPVLVKSIHYLYFSMILSTVTLITVSTVS
  WFTEPPSKEMVSHLTWFTRHDPVVQKEQAPPAAPLSLTLSQNGMPEASSSSSVQFEMVQE
  NTSKTHSCDMTPKQSKVVKAILWLCGIQEKGKEELPARAEAIIVSLEENPLVKTLLDVNL
  IFCVSCAIFIWGYFA

• Sequence length: 675

Pathways

Reactome:

Inositol transporters

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	18069935		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26352407	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19032932		★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	12039040		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26352407	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18069935		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	24925725		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	GWASCAT_DG	24925725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	30161013		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34207686	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19032932		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	15172003		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	26680454	Associate	★☆☆☆☆ Found in Text Mining only