SLC36A2
Proton-coupled amino acid transporter 2
Also known as: PAT2, S36A2_HUMAN, TRAMD1, tramdorin
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q495M3
- Gene
- SLC36A2
- Ensembl
- ENSG00000186335
- Chromosome
- 5
- Canonical length
- 483 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI Gene
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 are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]
Canonical amino-acid sequenceUniProt
483 residues, UniProt reviewed canonical sequence.
>Q495M3|SLC36A2
1 MSVTKSTEGP QGAVAIKLDL MSPPESAKKL ENKDSTFLDE SPSESAGLKK TKGITVFQAL
61 IHLVKGNMGT GILGLPLAVK NAGILMGPLS LLVMGFIACH CMHILVKCAQ RFCKRLNKPF
121 MDYGDTVMHG LEANPNAWLQ NHAHWGRHIV SFFLIITQLG FCCVYIVFLA DNLKQVVEAV
181 NSTTNNCYSN ETVILTPTMD SRLYMLSFLP FLVLLVLIRN LRILTIFSML ANISMLVSLV
241 IIIQYITQEI PDPSRLPLVA SWKTYPLFFG TAIFSFESIG VVLPLENKMK NARHFPAILS
301 LGMSIVTSLY IGMAALGYLR FGDDIKASIS LNLPNCWLYQ SVKLLYIAGI LCTYALQFYV
361 PAEIIIPFAI SRVSTRWALP LDLSIRLVMV CLTCLLAILI PRLDLVISLV GSVSGTALAL
421 IIPPLLEVTT FYSEGMSPLT IFKDALISIL GFVGFVVGTY QALDELLKSE DSHPFSNSTT
481 FVRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC36A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 11
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 75 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 75 nTPM
- kidney: 63 nTPM
- tongue: 28 nTPM
- testis: 0.9 nTPM
- salivary gland: 0.8 nTPM
- esophagus: 0.7 nTPM
Single-cell type
- myonuclei: 738 nCPM
- proximal tubule cells: 430 nCPM
- early spermatids: 30 nCPM
- late spermatids: 25 nCPM
- distal convoluted tubule cells: 8.6 nCPM
- late primary spermatocytes: 8.4 nCPM
Immune cell
- neutrophil: 1.1 nTPM
- basophil: 1 nTPM
- naive B-cell: 0.4 nTPM
- NK-cell: 0.4 nTPM
- plasmacytoid DC: 0.4 nTPM
- eosinophil: 0.3 nTPM
Brain region
- cerebellum: 4 nTPM
- cerebral cortex: 3.5 nTPM
- pons: 2.9 nTPM
- white matter: 2.8 nTPM
- basal ganglia: 2.7 nTPM
- amygdala: 2.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC36A2.
Disease | AllUniProt
Conditions SLC36A2 is implicated in, by any mechanism.
- Hyperglycinuria (HGLY) MIM:138500
- Iminoglycinuria (IG) MIM:242600
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.26
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.08
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- amino acid transport
- glycine transport
- L-alanine transport
- monoatomic ion transport
- proline transmembrane transport
- proline transport
- proton transmembrane transport
Molecular functions
- amino acid transmembrane transporter activity
- amino acid:proton symporter activity
- glycine transmembrane transporter activity
- L-alanine transmembrane transporter activity
- L-proline transmembrane transporter activity
- proline:proton symporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC36A2 as an antibody target. Whether an autoantibody or antibody against SLC36A2 could matter depends on whether native SLC36A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC36A2 is annotated at the cell surface, where native SLC36A2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC36A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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