• Gene id: 9057

Gene Summary

• Gene Symbol: SLC7A6   Gene   UCSC   Ensembl
• Aliases: LAT-2, LAT3, y+LAT-2
• Gene name: solute carrier family 7 member 6
• Alternate names: Y+L amino acid transporter 2, amino acid permease, cationic amino acid transporter, y+ system, solute carrier family 7 (amino acid transporter light chain, y+L system), member 6, solute carrier family 7 (cationic amino acid transporter, y+ system), member 6, y,
• Gene location: 16q22.1 (68264509: 68301818)     Exons: 15     NC_000016.10
• OMIM: 605641

Protein Summary

• Protein general information: Q92536  
  • Name: Y+L amino acid transporter 2 (Cationic amino acid transporter, y+ system) (Solute carrier family 7 member 6) (y(+)L type amino acid transporter 2) (Y+LAT2) (y+LAT 2)
  • Length: 515  
  • Mass: 56828
  • Tissue specificity: Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, RPE cells, and various carcinoma cell lines. {ECO
• Sequence:

  MEAREPGRPTPTYHLVPNTSQSQVEEDVSSPPQRSSETMQLKKEISLLNGVSLVVGNMIGSGIFVSPKGVLVHTA
  SYGMSLIVWAIGGLFSVVGALCYAELGTTITKSGASYAYILEAFGGFIAFIRLWVSLLVVEPTGQAIIAITFANY
  IIQPSFPSCDPPYLACRLLAAACICLLTFVNCAYVKWGTRVQDTFTYAKVVALIAIIVMGLVKLCQGHSEHFQDA
  FEGSSWDMGNLSLALYSALFSYSGWDTLNFVTEEIKNPERNLPLAIGISMPIVTLIYILTNVAYYTVLNISDVLS
  SDAVAVTFADQTFGMFSWTIPIAVALSCFGGLNASIFASSRLFFVGSREGHLPDLLSMIHIERFTPIPALLFNCT
  MALIYLIVEDVFQLINYFSFSYWFFVGLSVVGQLYLRWKEPKRPRPLKLSVFFPIVFCICSVFLVIVPLFTDTIN
  SLIGIGIALSGVPFYFMGVYLPESRRPLFIRNVLAAITRGTQQLCFCVLTELDVAEEKKDERKTD

• Structural information:
  • Interpro: IPR002293  
  • STRING: ENSP00000455064
• Other Databases: GeneCards:  SLC7A6  Malacards:  SLC7A6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015174	basic amino acid transmembrane transporter activity	IMP	molecular function
GO:1990822	basic amino acid transmembrane transport	IMP	biological process
GO:0015822	ornithine transport	IMP	biological process
GO:0015179	L-amino acid transmembrane transporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0015297	antiporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006865	amino acid transport	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0003333	amino acid transmembrane transport	TAS	biological process
GO:1902475	L-alpha-amino acid transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray