• Gene id: 6584

Gene Summary

• Gene Symbol: SLC22A5   Gene   UCSC   Ensembl
• Aliases: CDSP, OCTN2
• Gene name: solute carrier family 22 member 5
• Alternate names: solute carrier family 22 member 5, high-affinity sodium dependent carnitine cotransporter, organic cation/carnitine transporter 2,
• Gene location: 5q31.1 (132369703: 132395613)     Exons: 11     NC_000005.10
• Gene summary(Entrez): Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma int
• OMIM: 603377

Protein Summary

• Protein general information: O76082  
  • Name: Solute carrier family 22 member 5 (High affinity sodium dependent carnitine cotransporter) (Organic cation/carnitine transporter 2)
  • Length: 557  
  • Mass: 62,752
• Sequence:

  MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGR
  EVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFF
  VGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKS
  VRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKA
  AKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVN
  CFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYT
  AELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQML
  RVKGMKHRKTPSHTRMLKDGQERPTILKSTAF

• Structural information:
  • Interpro: IPR020846  IPR005828  IPR036259  IPR004749  IPR005829  
  • Prosite: PS50850 PS00216
  • CDD: cd06174
  • STRING: ENSP00000245407
• Other Databases: GeneCards:  SLC22A5  Malacards:  SLC22A5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IC	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0006855	drug transmembrane transport	IEA	biological process
GO:0009437	carnitine metabolic process	IBA	biological process
GO:0015226	carnitine transmembrane transporter activity	IDA	molecular function
GO:0015226	carnitine transmembrane transporter activity	IMP	molecular function
GO:0015226	carnitine transmembrane transporter activity	TAS	molecular function
GO:0015238	drug transmembrane transporter activity	IC	molecular function
GO:0015293	symporter activity	IEA	molecular function
GO:0015491	cation:cation antiporter activity	IBA	molecular function
GO:0015651	quaternary ammonium group transmembrane transporter activity	IDA	molecular function
GO:0015697	quaternary ammonium group transport	IDA	biological process
GO:0015879	carnitine transport	IDA	biological process
GO:0015879	carnitine transport	IMP	biological process
GO:0015893	drug transport	IC	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0031526	brush border membrane	IDA	cellular component
GO:0031526	brush border membrane	ISS	cellular component
GO:0052106	quorum sensing involved in interaction with host	IMP	biological process
GO:0060731	positive regulation of intestinal epithelial structure maintenance	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070715	sodium-dependent organic cation transport	IDA	biological process
GO:0070715	sodium-dependent organic cation transport	IDA	biological process
GO:1902603	carnitine transmembrane transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005215	transporter activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IC	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0006855	drug transmembrane transport	IEA	biological process
GO:0009437	carnitine metabolic process	IBA	biological process
GO:0015226	carnitine transmembrane transporter activity	IDA	molecular function
GO:0015226	carnitine transmembrane transporter activity	IMP	molecular function
GO:0015226	carnitine transmembrane transporter activity	TAS	molecular function
GO:0015238	drug transmembrane transporter activity	IC	molecular function
GO:0015293	symporter activity	IEA	molecular function
GO:0015491	cation:cation antiporter activity	IBA	molecular function
GO:0015651	quaternary ammonium group transmembrane transporter activity	IDA	molecular function
GO:0015697	quaternary ammonium group transport	IDA	biological process
GO:0015879	carnitine transport	IDA	biological process
GO:0015879	carnitine transport	IMP	biological process
GO:0015893	drug transport	IC	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0031526	brush border membrane	IDA	cellular component
GO:0031526	brush border membrane	ISS	cellular component
GO:0052106	quorum sensing involved in interaction with host	IMP	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0060731	positive regulation of intestinal epithelial structure maintenance	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070715	sodium-dependent organic cation transport	IDA	biological process
GO:0070715	sodium-dependent organic cation transport	IDA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:1902603	carnitine transmembrane transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IC	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0009437	carnitine metabolic process	IBA	biological process
GO:0015226	carnitine transmembrane transporter activity	IDA	molecular function
GO:0015226	carnitine transmembrane transporter activity	IMP	molecular function
GO:0015226	carnitine transmembrane transporter activity	TAS	molecular function
GO:0015238	drug transmembrane transporter activity	IC	molecular function
GO:0015491	cation:cation antiporter activity	IBA	molecular function
GO:0015651	quaternary ammonium group transmembrane transporter activity	IDA	molecular function
GO:0015697	quaternary ammonium group transport	IDA	biological process
GO:0015879	carnitine transport	IDA	biological process
GO:0015879	carnitine transport	IMP	biological process
GO:0015893	drug transport	IC	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0031526	brush border membrane	IDA	cellular component
GO:0031526	brush border membrane	ISS	cellular component
GO:0052106	quorum sensing involved in interaction with host	IMP	biological process
GO:0060731	positive regulation of intestinal epithelial structure maintenance	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070715	sodium-dependent organic cation transport	IDA	biological process
GO:0070715	sodium-dependent organic cation transport	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05231	Choline metabolism in cancer

Diseases

Associated diseases	References
Cancer (colorectal)	GAD: 18433468
Perianal disease	GAD: 17509030
Cardiovascular disease	GAD: 18337137
Left ventricular hypertrophy	GAD: 15647998
Asthma	GAD: 20860503
Cholangitis	GAD: 17100974
Crohn's disease	GAD: 15107849
Inflammatory bowel disease	GAD: 18338763
Ulcerative colitis	GAD: 17387389
Rheumatoid arthritis	GAD: 16652416
Psoriasis	GAD: 16484987
Diabetes	GAD: 16796743
Systemic primary carnitine deficiency	KEGG: H01589
Chronic renal failure	GAD: 21085059
Preeclampsia	GAD: 19578876
Male factor infertility	MIK: 26370461
Disorders of fatty-acid oxidation	KEGG: H00525
Carnitine deficiency	OMIM: 603377
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 26370461
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26370461	Male infertility	SLC22A5 (-207C>G )	Caucasi an	462 (206 infertile Caucasian males, 256 ethnically matched controls)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881