• Gene id: 5002

Gene Summary

• Gene Symbol: SLC22A18   Gene   UCSC   Ensembl
• Aliases: BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5, p45-BWR1A
• Gene name: solute carrier family 22 member 18
• Alternate names: solute carrier family 22 member 18, beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein, efflux transporter-like protein, imprinted multi-membrane-spanning polyspecific transporter-related protein 1, organic cation transporter-like p,
• Gene location: 11p15.4 (2899720: 2925245)     Exons: 14     NC_000011.10
• Gene summary(Entrez): This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms
• OMIM: 602631

Protein Summary

• Protein general information: Q96BI1  
  • Name: Solute carrier family 22 member 18 (Beckwith Wiedemann syndrome chromosomal region 1 candidate gene A protein) (Efflux transporter like protein) (Imprinted multi membrane spanning polyspecific transporter related protein 1) (Organic cation transporter lik
  • Length: 424  
  • Mass: 44,846
• Sequence:

  MQGARAPRDQGRSPGRMSALGRSSVILLTYVLAATELTCLFMQFSIVPYLSRKLGLDSIAFGYLQTTFGVLQLLG
  GPVFGRFADQRGARAALTLSFLAALALYLLLAAASSPALPGVYLLFASRLPGALMHTLPAAQMVITDLSAPEERP
  AALGRLGLCFGVGVILGSLLGGTLVSAYGIQCPAILAALATLLGAVLSFTCIPASTKGAKTDAQAPLPGGPRASV
  FDLKAIASLLRLPDVPRIFLVKVASNCPTGLFMVMFSIISMDFFQLEAAQAGYLMSFFGLLQMVTQGLVIGQLSS
  HFSEEVLLRASVLVFIVVGLAMAWMSSVFHFCLLVPGLVFSLCTLNVVTDSMLIKAVSTSDTGTMLGLCASVQPL
  LRTLGPTVGGLLYRSFGVPVFGHVQVAINTLVLLVLWRKPMPQRKDKVR

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  IPR001958  
  • Prosite: PS50850
  • CDD: cd06174
  • STRING: ENSP00000307859
• Other Databases: GeneCards:  SLC22A18  Malacards:  SLC22A18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005635	nuclear envelope	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006855	drug transmembrane transport	IEA	biological process
GO:0007588	excretion	NAS	biological process
GO:0015238	drug transmembrane transporter activity	IDA	molecular function
GO:0015293	symporter activity	IEA	molecular function
GO:0015307	drug:proton antiporter activity	TAS	molecular function
GO:0015695	organic cation transport	NAS	biological process
GO:0015893	drug transport	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0046618	drug export	IEA	biological process
GO:0005215	transporter activity	IEA	molecular function
GO:0005635	nuclear envelope	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006855	drug transmembrane transport	IEA	biological process
GO:0007588	excretion	NAS	biological process
GO:0015238	drug transmembrane transporter activity	IDA	molecular function
GO:0015293	symporter activity	IEA	molecular function
GO:0015307	drug:proton antiporter activity	TAS	molecular function
GO:0015695	organic cation transport	NAS	biological process
GO:0015893	drug transport	IDA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0046618	drug export	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0005635	nuclear envelope	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007588	excretion	NAS	biological process
GO:0015238	drug transmembrane transporter activity	IDA	molecular function
GO:0015307	drug:proton antiporter activity	TAS	molecular function
GO:0015695	organic cation transport	NAS	biological process
GO:0015893	drug transport	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function

Diseases

Associated diseases	References
Globozoospermia	MIK: 25762640
Azoospermia	MIK: 25762640
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 25762640
Globozoospermia	MIK: 25762640
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25762640	Azoospermia, Globozoospermia				Male infertility	GDAP1L1 GNAS KCNK9 LIN28B RB1 RTL1 SLC22A18 ZDBF2
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray