• Gene id: 54407

Gene Summary

• Gene Symbol: SLC38A2   Gene   UCSC   Ensembl
• Aliases: ATA2, PRO1068, SAT2, SNAT2
• Gene name: solute carrier family 38 member 2
• Alternate names: sodium-coupled neutral amino acid transporter 2, amino acid transporter 2, amino acid transporter A2, protein 40-9-1, system A amino acid transporter 2, system A transporter 1, system N amino acid transporter 2,
• Gene location: 12q13.11 (46372773: 46358187)     Exons: 16     NC_000012.12
• OMIM: 605180

Protein Summary

• Protein general information: Q96QD8  
  • Name: Sodium coupled neutral amino acid transporter 2 (Amino acid transporter A2) (Protein 40 9 1) (Solute carrier family 38 member 2) (System A amino acid transporter 2) (System A transporter 1) (System N amino acid transporter 2)
  • Length: 506  
  • Mass: 56026
  • Tissue specificity: Ubiquitously expressed. Widely expressed in the central nervous system with higher concentrations in caudal regions. Expressed by glutamatergic and GABAergic neurons together with astrocytes and other non-neuronal cells in the cerebral
• Sequence:

  MKKAEMGRFSISPDEDSSSYSSNSDFNYSYPTKQAALKSHYADVDPENQNFLLESNLGKKKYETEFHPGTTSFGM
  SVFNLSNAIVGSGILGLSYAMANTGIALFIILLTFVSIFSLYSVHLLLKTANEGGSLLYEQLGYKAFGLVGKLAA
  SGSITMQNIGAMSSYLFIVKYELPLVIQALTNIEDKTGLWYLNGNYLVLLVSLVVILPLSLFRNLGYLGYTSGLS
  LLCMVFFLIVVICKKFQVPCPVEAALIINETINTTLTQPTALVPALSHNVTENDSCRPHYFIFNSQTVYAVPILI
  FSFVCHPAVLPIYEELKDRSRRRMMNVSKISFFAMFLMYLLAALFGYLTFYEHVESELLHTYSSILGTDILLLIV
  RLAVLMAVTLTVPVVIFPIRSSVTHLLCASKDFSWWRHSLITVSILAFTNLLVIFVPTIRDIFGFIGASAASMLI
  FILPSAFYIKLVKKEPMKSVQKIGALFFLLSGVLVMTGSMALIVLDWVHNAPGGGH

• Structural information:
  • Interpro: IPR013057  
  • STRING: ENSP00000256689
• Other Databases: GeneCards:  SLC38A2  Malacards:  SLC38A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0005295	neutral amino acid:sodium symporter activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0015804	neutral amino acid transport	IDA	biological process
GO:0015186	L-glutamine transmembrane transporter activity	ISS	molecular function
GO:0015194	L-serine transmembrane transporter activity	ISS	molecular function
GO:0003333	amino acid transmembrane transport	IMP	biological process
GO:0006868	glutamine transport	ISS	biological process
GO:1903841	cellular response to arsenite(3-)	IMP	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0010628	positive regulation of gene expression	IPI	biological process
GO:0015825	L-serine transport	ISS	biological process
GO:0033120	positive regulation of RNA splicing	IPI	biological process
GO:0080135	regulation of cellular response to stress	IMP	biological process
GO:0015186	L-glutamine transmembrane transporter activity	IBA	molecular function
GO:0015171	amino acid transmembrane transporter activity	IBA	molecular function
GO:0006868	glutamine transport	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0003333	amino acid transmembrane transport	IBA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	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:0014047	glutamate secretion	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:0015171	amino acid transmembrane transporter activity	IEA	molecular function
GO:0006868	glutamine transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0032328	alanine transport	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0015825	L-serine transport	IEA	biological process
GO:0015194	L-serine transmembrane transporter activity	IEA	molecular function
GO:0006868	glutamine transport	IEA	biological process
GO:0005903	brush border	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015186	L-glutamine transmembrane transporter activity	IEA	molecular function
GO:0006865	amino acid transport	IEA	biological process
GO:0034198	cellular response to amino acid starvation	IEA	biological process
GO:0031460	glycine betaine transport	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0015186	L-glutamine transmembrane transporter activity	IEA	molecular function
GO:0007565	female pregnancy	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04724	Glutamatergic synapse
hsa04974	Protein digestion and absorption
hsa04727	GABAergic synapse

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray