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Protein

Proton-coupled amino acid transporter 2

Gene

SLC36A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • amino acid transport Source: Reactome
  • ion transport Source: Reactome
  • proline transmembrane transport Source: UniProtKB

Keywordsi

Biological processAmino-acid transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-428559 Proton-coupled neutral amino acid transporters
R-HSA-5619041 Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)

Protein family/group databases

TCDBi2.A.18.8.6 the amino acid/auxin permease (aaap) family

Names & Taxonomyi

Protein namesi
Recommended name:
Proton-coupled amino acid transporter 2
Short name:
Proton/amino acid transporter 2
Alternative name(s):
Solute carrier family 36 member 2
Tramdorin-1
Gene namesi
Name:SLC36A2
Synonyms:PAT2, TRAMD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000186335.8
HGNCiHGNC:18762 SLC36A2
MIMi608331 gene
neXtProtiNX_Q495M3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 58CytoplasmicSequence analysisAdd BLAST58
Transmembranei59 – 79HelicalSequence analysisAdd BLAST21
Topological domaini80 – 81ExtracellularSequence analysis2
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 148CytoplasmicSequence analysisAdd BLAST46
Transmembranei149 – 169HelicalSequence analysisAdd BLAST21
Topological domaini170 – 197ExtracellularSequence analysisAdd BLAST28
Transmembranei198 – 218HelicalSequence analysisAdd BLAST21
Topological domaini219 – 222CytoplasmicSequence analysis4
Transmembranei223 – 243HelicalSequence analysisAdd BLAST21
Topological domaini244 – 264ExtracellularSequence analysisAdd BLAST21
Transmembranei265 – 285HelicalSequence analysisAdd BLAST21
Topological domaini286 – 296CytoplasmicSequence analysisAdd BLAST11
Transmembranei297 – 317HelicalSequence analysisAdd BLAST21
Topological domaini318 – 349ExtracellularSequence analysisAdd BLAST32
Transmembranei350 – 370HelicalSequence analysisAdd BLAST21
Topological domaini371 – 379CytoplasmicSequence analysis9
Transmembranei380 – 400HelicalSequence analysisAdd BLAST21
Topological domaini401 – 404ExtracellularSequence analysis4
Transmembranei405 – 425HelicalSequence analysisAdd BLAST21
Topological domaini426 – 437CytoplasmicSequence analysisAdd BLAST12
Transmembranei438 – 458HelicalSequence analysisAdd BLAST21
Topological domaini459 – 483ExtracellularSequence analysisAdd BLAST25

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperglycinuria (HG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.
See also OMIM:138500
Iminoglycinuria (IG)1 Publication
The disease is caused by mutations 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.
Disease descriptionA disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.
See also OMIM:242600

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi153201
MalaCardsiSLC36A2
MIMi138500 phenotype
242600 phenotype
OpenTargetsiENSG00000186335
Orphaneti42062 Iminoglycinuria
PharmGKBiPA134899820

Chemistry databases

DrugBankiDB00260 Cycloserine
GuidetoPHARMACOLOGYi1162

Polymorphism and mutation databases

BioMutaiSLC36A2
DMDMi121943282

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003248191 – 483Proton-coupled amino acid transporter 2Add BLAST483

Proteomic databases

PaxDbiQ495M3
PeptideAtlasiQ495M3
PRIDEiQ495M3

PTM databases

iPTMnetiQ495M3
PhosphoSitePlusiQ495M3

Expressioni

Tissue specificityi

Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus.2 Publications

Gene expression databases

BgeeiENSG00000186335
CleanExiHS_SLC36A2
ExpressionAtlasiQ495M3 baseline and differential

Organism-specific databases

HPAiHPA044002
HPA062229

Interactioni

Protein-protein interaction databases

IntActiQ495M3, 1 interactor
STRINGi9606.ENSP00000334223

Structurei

3D structure databases

ProteinModelPortaliQ495M3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1304 Eukaryota
COG0814 LUCA
GeneTreeiENSGT00390000011245
HOGENOMiHOG000006823
HOVERGENiHBG057183
InParanoidiQ495M3
KOiK14209
OMAiVGILCTY
OrthoDBiEOG091G079T
PhylomeDBiQ495M3
TreeFamiTF314873

Family and domain databases

InterProiView protein in InterPro
IPR013057 AA_transpt_TM
PfamiView protein in Pfam
PF01490 Aa_trans, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q495M3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSVTKSTEGP QGAVAIKLDL MSPPESAKKL ENKDSTFLDE SPSESAGLKK
60 70 80 90 100
TKGITVFQAL IHLVKGNMGT GILGLPLAVK NAGILMGPLS LLVMGFIACH
110 120 130 140 150
CMHILVKCAQ RFCKRLNKPF MDYGDTVMHG LEANPNAWLQ NHAHWGRHIV
160 170 180 190 200
SFFLIITQLG FCCVYIVFLA DNLKQVVEAV NSTTNNCYSN ETVILTPTMD
210 220 230 240 250
SRLYMLSFLP FLVLLVLIRN LRILTIFSML ANISMLVSLV IIIQYITQEI
260 270 280 290 300
PDPSRLPLVA SWKTYPLFFG TAIFSFESIG VVLPLENKMK NARHFPAILS
310 320 330 340 350
LGMSIVTSLY IGMAALGYLR FGDDIKASIS LNLPNCWLYQ SVKLLYIAGI
360 370 380 390 400
LCTYALQFYV PAEIIIPFAI SRVSTRWALP LDLSIRLVMV CLTCLLAILI
410 420 430 440 450
PRLDLVISLV GSVSGTALAL IIPPLLEVTT FYSEGMSPLT IFKDALISIL
460 470 480
GFVGFVVGTY QALDELLKSE DSHPFSNSTT FVR
Length:483
Mass (Da):53,216
Last modified:September 13, 2005 - v1
Checksum:iE283B8C6F0C63666
GO
Isoform 2 (identifier: Q495M3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-198: Missing.

Note: No experimental confirmation available.
Show »
Length:285
Mass (Da):31,642
Checksum:iEA3F89C90602A4CE
GO
Isoform 3 (identifier: Q495M3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-276: Missing.
     277-281: ESIGV → MNDTA

Note: No experimental confirmation available.
Show »
Length:207
Mass (Da):22,680
Checksum:i6320177505ED6D96
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti156I → N in AAO11788 (PubMed:12809675).Curated1
Sequence conflicti408S → P in AAO11788 (PubMed:12809675).Curated1
Sequence conflicti410V → M in BAC85496 (PubMed:14702039).Curated1
Sequence conflicti429T → P in BAC85496 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06479587G → V in HG and IG; partially inactivating mutation; results in a 3-fold increase of Km value for proline and a 5-fold increase of Km for glycine. 1 PublicationCorresponds to variant dbSNP:rs77010315Ensembl.1
Natural variantiVAR_039887445A → V. Corresponds to variant dbSNP:rs10042608Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0323711 – 276Missing in isoform 3. 1 PublicationAdd BLAST276
Alternative sequenceiVSP_0323721 – 198Missing in isoform 2. 1 PublicationAdd BLAST198
Alternative sequenceiVSP_032373277 – 281ESIGV → MNDTA in isoform 3. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY162214 mRNA Translation: AAO11788.1
AK122630 mRNA Translation: BAC85496.1
CH471062 Genomic DNA Translation: EAW61678.1
BC101100 mRNA Translation: AAI01101.1
BC101101 mRNA Translation: AAI01102.1
BC101102 mRNA Translation: AAI01103.1
BC101103 mRNA Translation: AAI01104.1
CCDSiCCDS4315.1 [Q495M3-1]
RefSeqiNP_861441.2, NM_181776.2 [Q495M3-1]
XP_016864573.1, XM_017009084.1 [Q495M3-2]
UniGeneiHs.483877

Genome annotation databases

EnsembliENST00000335244; ENSP00000334223; ENSG00000186335 [Q495M3-1]
GeneIDi153201
KEGGihsa:153201
UCSCiuc003lty.3 human [Q495M3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiS36A2_HUMAN
AccessioniPrimary (citable) accession number: Q495M3
Secondary accession number(s): Q495M4
, Q495M6, Q6ZWK5, Q7Z6B5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 13, 2005
Last modified: April 25, 2018
This is version 108 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health