• Gene id: 6542

Gene Summary

• Gene Symbol: SLC7A2   Gene   UCSC   Ensembl
• Aliases: ATRC2, CAT2, HCAT2
• Gene name: solute carrier family 7 member 2
• Alternate names: cationic amino acid transporter 2, low affinity cationic amino acid transporter 2, solute carrier family 7 (cationic amino acid transporter, y+ system), member 2,
• Gene location: 8p22 (17494348: 17570565)     Exons: 17     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine
• OMIM: 300594

Protein Summary

• Protein general information: P52569  
  • Name: Cationic amino acid transporter 2 (CAT 2) (CAT2) (Low affinity cationic amino acid transporter 2) (Solute carrier family 7 member 2)
  • Length: 658  
  • Mass: 71673
  • Tissue specificity: Expressed at high levels in the skeletal muscle, placenta and ovary. Expressed at intermediate levels in the liver and pancreas and at low levels in the kidney and heart. {ECO
• Sequence:

  MIPCRAALTFARCLIRRKIVTLDSLEDTKLCRCLSTMDLIALGVGSTLGAGVYVLAGEVAKADSGPSIVVSFLIA
  ALASVMAGLCYAEFGARVPKTGSAYLYTYVTVGELWAFITGWNLILSYVIGTSSVARAWSGTFDELLSKQIGQFL
  RTYFRMNYTGLAEYPDFFAVCLILLLAGLLSFGVKESAWVNKVFTAVNILVLLFVMVAGFVKGNVANWKISEEFL
  KNISASAREPPSENGTSIYGAGGFMPYGFTGTLAGAATCFYAFVGFDCIATTGEEVRNPQKAIPIGIVTSLLVCF
  MAYFGVSAALTLMMPYYLLDEKSPLPVAFEYVGWGPAKYVVAAGSLCALSTSLLGSIFPMPRVIYAMAEDGLLFK
  CLAQINSKTKTPIIATLSSGAVAALMAFLFDLKALVDMMSIGTLMAYSLVAACVLILRYQPGLSYDQPKCSPEKD
  GLGSSPRVTSKSESQVTMLQRQGFSMRTLFCPSLLPTQQSASLVSFLVGFLAFLVLGLSVLTTYGVHAITRLEAW
  SLALLALFLVLFVAIVLTIWRQPQNQQKVAFMVPFLPFLPAFSILVNIYLMVQLSADTWVRFSIWMAIGFLIYFS
  YGIRHSLEGHLRDENNEEDAYPDNVHAAAEEKSAIQANDHHPRNLSSPFIFHEKTSEF

• Structural information:
  • Interpro: IPR002293  IPR004755  IPR029485  
  • STRING: ENSP00000004531
• Other Databases: GeneCards:  SLC7A2  Malacards:  SLC7A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:1903352	L-ornithine transmembrane transport	IBA	biological process
GO:0015189	L-lysine transmembrane transporter activity	IBA	molecular function
GO:0015181	arginine transmembrane transporter activity	IBA	molecular function
GO:0006865	amino acid transport	IBA	biological process
GO:0097638	L-arginine import across plasma membrane	IBA	biological process
GO:0015171	amino acid transmembrane transporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0000064	L-ornithine transmembrane transporter activity	IBA	molecular function
GO:0006865	amino acid transport	IEA	biological process
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015174	basic 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:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0006865	amino acid transport	TAS	biological process
GO:0002537	nitric oxide production involved in inflammatory response	IEA	biological process
GO:0015181	arginine transmembrane transporter activity	IEA	molecular function
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0061459	L-arginine transmembrane transporter activity	IEA	molecular function
GO:0015181	arginine transmembrane transporter activity	IEA	molecular function
GO:0006809	nitric oxide biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042116	macrophage activation	IEA	biological process
GO:0043030	regulation of macrophage activation	IEA	biological process
GO:1902023	L-arginine transport	IEA	biological process
GO:0015809	arginine transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:1903401	L-lysine transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray