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UniProtKB - Q495M3 (S36A2_HUMAN)

Entry version 129 (29 Sep 2021)
Sequence version 1 (13 Sep 2005)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAmino-acid transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q495M3

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-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)

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q495M3

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.18.8.6, the amino acid/auxin permease (aaap) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC36A2
Synonyms:PAT2, TRAMD1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18762, SLC36A2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608331, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q495M3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000186335

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 58CytoplasmicSequence analysisAdd BLAST58
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hyperglycinuria (HG)1 Publication
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs77010315EnsemblClinVar.1
Iminoglycinuria (IG)1 Publication
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.
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.
Related information in OMIM
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:rs77010315EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		153201

MalaCards human disease database

More...MalaCardsi		SLC36A2
MIMi138500, phenotype
242600, phenotype

Open Targets

More...OpenTargetsi		ENSG00000186335

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		42062, Iminoglycinuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134899820

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q495M3, Tchem

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00260, Cycloserine

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		1162

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC36A2

Domain mapping of disease mutations (DMDM)

More...DMDMi		121943282

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003248191 – 483Proton-coupled amino acid transporter 2Add BLAST483

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q495M3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q495M3

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q495M3

PeptideAtlas

More...PeptideAtlasi		Q495M3

PRoteomics IDEntifications database

More...PRIDEi		Q495M3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61963 [Q495M3-1]
61964 [Q495M3-2]
61965 [Q495M3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q495M3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q495M3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000186335, Expressed in muscle of leg and 52 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q495M3, baseline and differential

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000186335, Group enriched (kidney, skeletal muscle, tongue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...IntActi		Q495M3, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000334223

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q495M3, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni26 – 46DisorderedSequence analysisAdd BLAST21

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the amino acid/polyamine transporter 2 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1304, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162044

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q495M3

Identification of Orthologs from Complete Genome Data

More...OMAi		VSKRWAL

Database of Orthologous Groups

More...OrthoDBi		464614at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q495M3

TreeFam database of animal gene trees

More...TreeFami		TF314873

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013057, AA_transpt_TM

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01490, Aa_trans, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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

Show »
Length:207
Mass (Da):22,680
Checksum:i6320177505ED6D96
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RGH8E5RGH8_HUMAN
Proton-coupled amino acid transport...
SLC36A2
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJJ5E5RJJ5_HUMAN
Proton-coupled amino acid transport...
SLC36A2
395Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YB43H0YB43_HUMAN
Proton-coupled amino acid transport...
SLC36A2
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs77010315EnsemblClinVar.1
Natural variantiVAR_039887445A → V. Corresponds to variant dbSNP:rs10042608Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4315.1 [Q495M3-1]

NCBI Reference Sequences

More...RefSeqi		NP_861441.2, NM_181776.2 [Q495M3-1]
XP_016864573.1, XM_017009084.1 [Q495M3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000335244; ENSP00000334223; ENSG00000186335 [Q495M3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		153201

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:153201

UCSC genome browser

More...UCSCi		uc003lty.3, human [Q495M3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

IntActiQ495M3, 2 interactors
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

Genetic variation databases

BioMutaiSLC36A2
DMDMi121943282

Proteomic databases

jPOSTiQ495M3
MassIVEiQ495M3
PaxDbiQ495M3
PeptideAtlasiQ495M3
PRIDEiQ495M3
ProteomicsDBi61963 [Q495M3-1]
61964 [Q495M3-2]
61965 [Q495M3-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		28201, 124 antibodies

The DNASU plasmid repository

More...DNASUi		153201

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		153201
DisGeNETi153201

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC36A2
HGNCiHGNC:18762, SLC36A2
HPAiENSG00000186335, Group enriched (kidney, skeletal muscle, tongue)
MalaCardsiSLC36A2
MIMi138500, phenotype
242600, phenotype
608331, gene
neXtProtiNX_Q495M3
OpenTargetsiENSG00000186335
Orphaneti42062, Iminoglycinuria
PharmGKBiPA134899820
VEuPathDBiHostDB:ENSG00000186335

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1304, Eukaryota
GeneTreeiENSGT00940000162044
InParanoidiQ495M3
OMAiVSKRWAL
OrthoDBi464614at2759
PhylomeDBiQ495M3
TreeFamiTF314873

Enzyme and pathway databases

PathwayCommonsiQ495M3
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)
SIGNORiQ495M3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		153201, 2 hits in 1000 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SLC36A2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC36A2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		153201
PharosiQ495M3, Tchem

Protein Ontology

More...PROi		PR:Q495M3
RNActiQ495M3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000186335, Expressed in muscle of leg and 52 other tissues
ExpressionAtlasiQ495M3, baseline and differential

Family and domain databases

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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS36A2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q495M3
Secondary accession number(s): Q495M4
, Q495M6, Q6ZWK5, Q7Z6B5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 13, 2005
Last modified: September 29, 2021
This is version 129 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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