SLC36A2
entrez
153201
canonical
uniprot
Q495M3
canonical
ensembl
ENSG00000186335
resolver
ensp
ENSP00000334223
resolver
ensp
ENSP00000784383
resolver
ensp
ENSP00000784384
resolver
genesymbol
SLC36A2
resolver
genesymbol_syn
PAT2
resolver
genesymbol_syn
TRAMD1
resolver
hgnc
HGNC:18762
resolver
uniprot
Q495M4
resolver
uniprot
Q495M6
resolver
uniprot
Q6ZWK5
resolver
uniprot
Q7Z6B5
resolver
uniprot_entry
S36A2_HUMAN
resolver
uniprot_sec
Q495M4
resolver
uniprot_sec
Q495M6
resolver
uniprot_sec
Q6ZWK5
resolver
uniprot_sec
Q7Z6B5
resolver
amino_acid_sequence
MSVTKSTEGPQGAVAIKLDLMSPPESAKKLENKDSTFLDESPSESAGLKKTKGITVFQALIHLVKGNMGTGILGLPLAVKNAGILMGPLSLLVMGFIACHCMHILVKCAQRFCKRLNKPFMDYGDTVMHGLEANPNAWLQNHAHWGRHIVSFFLIITQLGFCCVYIVFLADNLKQVVEAVNSTTNNCYSNETVILTPTMDSRLYMLSFLPFLVLLVLIRNLRILTIFSMLANISMLVSLVIIIQYITQEIPDPSRLPLVASWKTYPLFFGTAIFSFESIGVVLPLENKMKNARHFPAILSLGMSIVTSLYIGMAALGYLRFGDDIKASISLNLPNCWLYQSVKLLYIAGILCTYALQFYVPAEIIIPFAISRVSTRWALPLDLSIRLVMVCLTCLLAILIPRLDLVISLVGSVSGTALALIIPPLLEVTTFYSEGMSPLTIFKDALISILGFVGFVVGTYQALDELLKSEDSHPFSNSTTFVR
uniprot
proteins
disease_involvement
DISEASE: Hyperglycinuria (HGLY) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO:0000269|PubMed:19033659}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. {ECO:0000269|PubMed:19033659}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Mutations in SLC36A2 that retain residual transport activity result in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional polymorphisms and mutations in SLC6A18 can contribute to iminoglycinuria in some families.
uniprot
proteins
function
FUNCTION: Electrogenic proton/amino acid symporter with a high selectivity for the small side chains amino acids glycine, alanine and proline, where both L- and D-enantiomers are transported. Extension of the backbone length, as in beta-alanine and 4-aminobutanoate or methylation of the amino group, as in sarcosine and N,N-dimethylglycine, are also tolerated but decrease transport efficiency. A free carboxyl group is preferred. {ECO:0000269|PubMed:12809675, ECO:0000269|PubMed:19033659}.
uniprot
proteins
mass_dalton
53216
uniprot
proteins
protein_family
Amino acid/polyamine transporter 2 family
uniprot
proteins
pubmed
12809675
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15058382
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19033659
uniprot
proteins
sequence_length
483
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19033659}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8BHK3}. Recycling endosome membrane {ECO:0000250|UniProtKB:Q8BHK3}.
uniprot
proteins
transmembrane_region
TRANSMEM 59..79; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 82..102; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 149..169; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 198..218; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 223..243; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 265..285; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 297..317; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 350..370; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 380..400; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 405..425; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 438..458; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins