• Gene id: 23428

Gene Summary

• Gene Symbol: SLC7A8   Gene   UCSC   Ensembl
• Aliases: LAT2, LPI-PC1
• Gene name: solute carrier family 7 member 8
• Alternate names: large neutral amino acids transporter small subunit 2, L-type amino acid transporter 2, integral membrane protein E16H, solute carrier family 7 (amino acid transporter light chain, L system), member 8, solute carrier family 7 (amino acid transporter, L-type),,
• Gene location: 14q11.2 (23183659: 23125294)     Exons: 13     NC_000014.9
• OMIM: 604235

Protein Summary

• Protein general information: Q9UHI5  
  • Name: Large neutral amino acids transporter small subunit 2 (L type amino acid transporter 2) (hLAT2) (Solute carrier family 7 member 8)
  • Length: 535  
  • Mass: 58382
  • Tissue specificity: Strongest expression is observed in kidney and moderate expression in placenta and brain, followed by liver, prostate, testis, ovary, lymph node, thymus, spleen, skeletal muscle and heart. Also expressed in fetal liver as well as in th
• Sequence:

  MEEGARHRNNTEKKHPGGGESDASPEAGSGGGGVALKKEIGLVSACGIIVGNIIGSGIFVSPKGVLENAGSVGLA
  LIVWIVTGFITVVGALCYAELGVTIPKSGGDYSYVKDIFGGLAGFLRLWIAVLVIYPTNQAVIALTFSNYVLQPL
  FPTCFPPESGLRLLAAICLLLLTWVNCSSVRWATRVQDIFTAGKLLALALIIIMGIVQICKGEYFWLEPKNAFEN
  FQEPDIGLVALAFLQGSFAYGGWNFLNYVTEELVDPYKNLPRAIFISIPLVTFVYVFANVAYVTAMSPQELLASN
  AVAVTFGEKLLGVMAWIMPISVALSTFGGVNGSLFTSSRLFFAGAREGHLPSVLAMIHVKRCTPIPALLFTCIST
  LLMLVTSDMYTLINYVGFINYLFYGVTVAGQIVLRWKKPDIPRPIKINLLFPIIYLLFWAFLLVFSLWSEPVVCG
  IGLAIMLTGVPVYFLGVYWQHKPKCFSDFIELLTLVSQKMCVVVYPEVERGSGTEEANEDMEEQQQPMYQPTPTK
  DKDVAGQPQP

• Structural information:
  • Interpro: IPR002293  IPR004760  
  • STRING: ENSP00000320378
• Other Databases: GeneCards:  SLC7A8  Malacards:  SLC7A8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0015179	L-amino acid transmembrane transporter activity	IBA	molecular function
GO:0015804	neutral amino acid transport	IBA	biological process
GO:0015175	neutral amino acid 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:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015175	neutral amino acid transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0015171	amino acid transmembrane transporter activity	EXP	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015807	L-amino acid transport	IEA	biological process
GO:0015179	L-amino acid transmembrane transporter activity	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1902475	L-alpha-amino acid transmembrane transport	IEA	biological process
GO:1902475	L-alpha-amino acid transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:1901998	toxin transport	IEA	biological process
GO:0015695	organic cation transport	IEA	biological process
GO:0006865	amino acid transport	IDA	biological process
GO:0006865	amino acid transport	IDA	biological process
GO:0006865	amino acid transport	IDA	biological process
GO:0019534	toxin transmembrane transporter activity	IDA	molecular function
GO:0015171	amino acid transmembrane transporter activity	IDA	molecular function
GO:0015171	amino acid transmembrane transporter activity	IDA	molecular function
GO:0015171	amino acid transmembrane transporter activity	IDA	molecular function
GO:0015101	organic cation transmembrane transporter activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0015171	amino acid transmembrane transporter activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042605	peptide antigen binding	ISS	molecular function
GO:0009636	response to toxic substance	NAS	biological process
GO:0015804	neutral amino acid transport	ISS	biological process
GO:0055065	metal ion homeostasis	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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