• Gene id: 153201

Gene Summary

• Gene Symbol: SLC36A2   Gene   UCSC   Ensembl
• Aliases: PAT2, TRAMD1
• Gene name: solute carrier family 36 member 2
• Alternate names: proton-coupled amino acid transporter 2, solute carrier family 36 (proton/amino acid symporter), member 2, tramdorin-1,
• Gene location: 5q33.1 (151347582: 151314971)     Exons: 12     NC_000005.10
• Gene summary(Entrez): This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene
• OMIM: 608331

Protein Summary

• Protein general information: Q495M3  
  • Name: Proton coupled amino acid transporter 2 (Proton/amino acid transporter 2) (Solute carrier family 36 member 2) (Tramdorin 1)
  • Length: 483  
  • Mass: 53216
  • Tissue specificity: Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus. {ECO
• Sequence:

  MSVTKSTEGPQGAVAIKLDLMSPPESAKKLENKDSTFLDESPSESAGLKKTKGITVFQALIHLVKGNMGTGILGL
  PLAVKNAGILMGPLSLLVMGFIACHCMHILVKCAQRFCKRLNKPFMDYGDTVMHGLEANPNAWLQNHAHWGRHIV
  SFFLIITQLGFCCVYIVFLADNLKQVVEAVNSTTNNCYSNETVILTPTMDSRLYMLSFLPFLVLLVLIRNLRILT
  IFSMLANISMLVSLVIIIQYITQEIPDPSRLPLVASWKTYPLFFGTAIFSFESIGVVLPLENKMKNARHFPAILS
  LGMSIVTSLYIGMAALGYLRFGDDIKASISLNLPNCWLYQSVKLLYIAGILCTYALQFYVPAEIIIPFAISRVST
  RWALPLDLSIRLVMVCLTCLLAILIPRLDLVISLVGSVSGTALALIIPPLLEVTTFYSEGMSPLTIFKDALISIL
  GFVGFVVGTYQALDELLKSEDSHPFSNSTTFVR

• Structural information:
  • Interpro: IPR013057  
  • STRING: ENSP00000334223
• Other Databases: GeneCards:  SLC36A2  Malacards:  SLC36A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902600	proton transmembrane transport	IBA	biological process
GO:0035524	proline transmembrane transport	IBA	biological process
GO:0015816	glycine transport	IBA	biological process
GO:0015808	L-alanine transport	IBA	biological process
GO:0015193	L-proline transmembrane transporter activity	IBA	molecular function
GO:0005280	amino acid:proton symporter activity	IBA	molecular function
GO:0015187	glycine transmembrane transporter activity	IBA	molecular function
GO:0015180	L-alanine transmembrane transporter activity	IBA	molecular function
GO:0015171	amino acid transmembrane transporter activity	IBA	molecular function
GO:0005774	vacuolar membrane	IBA	cellular component
GO:0003333	amino acid transmembrane transport	IBA	biological process
GO:0035524	proline transmembrane transport	IMP	biological process
GO:0015187	glycine transmembrane transporter activity	IMP	molecular function
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:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0006865	amino acid transport	TAS	biological process
GO:0005280	amino acid:proton symporter activity	IEA	molecular function
GO:0015193	L-proline transmembrane transporter activity	IEA	molecular function
GO:0015808	L-alanine transport	IEA	biological process
GO:0015816	glycine transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015180	L-alanine transmembrane transporter activity	IEA	molecular function
GO:0015187	glycine transmembrane transporter activity	IEA	molecular function
GO:0015824	proline transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Iminoglycinuria	KEGG:H00905
Hyperglycinuria	KEGG:H01304
Iminoglycinuria	KEGG:H00905
Hyperglycinuria	KEGG:H01304
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)