• Gene id: 348932

Gene Summary

• Gene Symbol: SLC6A18   Gene   UCSC   Ensembl
• Aliases: Xtrp2
• Gene name: solute carrier family 6 member 18
• Alternate names: inactive sodium-dependent neutral amino acid transporter B(0)AT3, sodium channel-like protein, sodium- and chloride-dependent transporter XTRP2, sodium-dependent neutral amino acid transporter B(0)AT3, solute carrier family 6 (neurotransmitter transporter), m,
• Gene location: 5p15.33 (1225380: 1246188)     Exons: 12     NC_000005.10
• Gene summary(Entrez): The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport fr
• OMIM: 609383

Protein Summary

• Protein general information: Q96N87  
  • Name: Inactive sodium dependent neutral amino acid transporter B(0)AT3 (Sodium and chloride dependent transporter XTRP2) (Solute carrier family 6 member 18) (System B(0) neutral amino acid transporter AT3)
  • Length: 628  
  • Mass: 70897
  • Tissue specificity: Abundantly expressed in kidney, but not in intestine. {ECO
• Sequence:

  MAHAPEPDPAACDLGDERPKWDNKAQYLLSCTGFAVGLGNIWRFPYLCQTYGGGAFLIPYVIALVFEGIPIFHVE
  LAIGQRLRKGSVGVWTAISPYLSGVGLGCVTLSFLISLYYNTIVAWVLWYLLNSFQHPLPWSSCPPDLNRTGFVE
  ECQGSSAVSYFWYRQTLNITADINDSGSIQWWLLICLAASWAVVYMCVIRGIETTGKVIYFTALFPYLVLTIFLI
  RGLTLPGATKGLIYLFTPNMHILQNPRVWLDAATQIFFSLSLAFGGHIAFASYNSPRNDCQKDAVVIALVNRMTS
  LYASIAVFSVLGFKATNDYEHCLDRNILSLINDFDFPEQSISRDDYPAVLMHLNATWPKRVAQLPLKACLLEDFL
  DKSASGPGLAFVVFTETDLHMPGAPVWAMLFFGMLFTLGLSTMFGTVEAVITPLLDVGVLPRWVPKEALTGLVCL
  VCFLSATCFTLQSGNYWLEIFDNFAASPNLLMLAFLEVVGVVYVYGMKRFCDDIAWMTGRRPSPYWRLTWRVVSP
  LLLTIFVAYIILLFWKPLRYKAWNPKYELFPSRQEKLYPGWARAACVLLSLLPVLWVPVAALAQLLTRRRRTWRD
  RDARPDTDMRPDTDTRPDTDMRPDTDMR

• Structural information:
  • Interpro: IPR042701  IPR000175  IPR002438  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • CDD: cd11517
  • STRING: ENSP00000323549
• Other Databases: GeneCards:  SLC6A18  Malacards:  SLC6A18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0015171	amino acid transmembrane transporter activity	IDA	NOT|contributes to
GO:0006865	amino acid transport	IMP	NOT|biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0006865	amino acid transport	TAS	biological process
GO:0031526	brush border membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray