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Protein

Proton-coupled amino acid transporter 2

Gene

SLC36A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • proline transport Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Transport

Enzyme and pathway databases

BioCyciZFISH:G66-33604-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.
R-HSA-428559. Proton-coupled neutral amino acid transporters.

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

HGNCiHGNC:18762. SLC36A2.

Subcellular locationi

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

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: Reactome
Complete GO annotation...

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
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 rs77010315dbSNPEnsembl.1
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
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 rs77010315dbSNPEnsembl.1

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.
OMAiCHYNETV.
OrthoDBiEOG091G079T.
PhylomeDBiQ495M3.
TreeFamiTF314873.

Family and domain databases

InterProiIPR013057. AA_transpt_TM.
[Graphical view]
PfamiPF01490. Aa_trans. 1 hit.
[Graphical view]

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 rs77010315dbSNPEnsembl.1
Natural variantiVAR_039887445A → V.Corresponds to variant rs10042608dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ495M3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ495M3. 1 interactor.
STRINGi9606.ENSP00000334223.

Chemistry databases

DrugBankiDB00260. Cycloserine.
GuidetoPHARMACOLOGYi1162.

Protein family/group databases

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

PTM databases

iPTMnetiQ495M3.
PhosphoSitePlusiQ495M3.

Polymorphism and mutation databases

BioMutaiSLC36A2.
DMDMi121943282.

Proteomic databases

PaxDbiQ495M3.
PeptideAtlasiQ495M3.
PRIDEiQ495M3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi153201.
DisGeNETi153201.
GeneCardsiSLC36A2.
HGNCiHGNC:18762. SLC36A2.
HPAiHPA044002.
HPA062229.
MalaCardsiSLC36A2.
MIMi138500. phenotype.
242600. phenotype.
608331. gene.
neXtProtiNX_Q495M3.
OpenTargetsiENSG00000186335.
Orphaneti42062. Iminoglycinuria.
PharmGKBiPA134899820.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:G66-33604-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.
R-HSA-428559. Proton-coupled neutral amino acid transporters.

Miscellaneous databases

ChiTaRSiSLC36A2. human.
GeneWikiiSLC36A2.
GenomeRNAii153201.
PROiQ495M3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186335.
CleanExiHS_SLC36A2.
ExpressionAtlasiQ495M3. baseline and differential.

Family and domain databases

InterProiIPR013057. AA_transpt_TM.
[Graphical view]
PfamiPF01490. Aa_trans. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS36A2_HUMAN
AccessioniPrimary (citable) accession number: Q495M3
Secondary accession number(s): Q495M4
, Q495M6, Q6ZWK5, Q7Z6B5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 13, 2005
Last modified: November 30, 2016
This is version 100 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.