• Gene id: 124935

Gene Summary

• Gene Symbol: SLC43A2   Gene   UCSC   Ensembl
• Aliases: LAT4
• Gene name: solute carrier family 43 member 2
• Alternate names: large neutral amino acids transporter small subunit 4, L-type amino acid transporter 4, solute carrier family 43 (amino acid system L transporter), member 2,
• Gene location: 17p13.3 (1630013: 1569253)     Exons: 18     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and m

Protein Summary

• Protein general information: Q8N370  
  • Name: Large neutral amino acids transporter small subunit 4 (L type amino acid transporter 4) (Solute carrier family 43 member 2)
  • Length: 569  
  • Mass: 62747
  • Tissue specificity: Detected in several tissues with higher expression in placenta, kidney and peripheral blood leukocytes. In the kidney, is detected in epithelial cells of the distal tubule and collecting duct. In the intestine, is expressed mainly in c
• Sequence:

  MAPTLATAHRRRWWMACTAVLENLLFSAVLLGWGSLLIMLKSEGFYSYLCTEPENVTNGTVGGTAEPGHEEVSWM
  NGWLSCQAQDEMLNLAFTVGSFLLSAITLPLGIVMDKYGPRKLRLLGSACFAVSCLLIAYGASKPNALSVLIFIA
  LALNGFGGMCMTFTSLTLPNMFGDLRSTFIALMIGSYASSAVTFPGIKLIYDAGVSFIVVLVVWAGCSGLVFLNC
  FFNWPLEPFPGPEDMDYSVKIKFSWLGFDHKITGKQFYKQVTTVGRRLSVGSSMRSAKEQVALQEGHKLCLSTVD
  LEVKCQPDAAVAPSFMHSVFSPILLLSLVTMCVTQLRLIFYMGAMNNILKFLVSGDQKTVGLYTSIFGVLQLLCL
  LTAPVIGYIMDWRLKECEDASEEPEEKDANQGEKKKKKRDRQIQKITNAMRAFAFTNLLLVGFGVTCLIPNLPLQ
  ILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLS
  LLGFCLPLYLICYRRQLERQLQQRQEDDKLFLKINGSSNQEAFV

• Structural information:
  • Interpro: IPR027201  IPR011701  IPR036259  
  • STRING: ENSP00000461382
• Other Databases: GeneCards:  SLC43A2  Malacards:  SLC43A2

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0015179	L-amino acid transmembrane transporter activity	IEA	molecular function
GO:0015807	L-amino acid transport	IEA	biological process
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
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: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:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	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:1902475	L-alpha-amino acid transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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