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] See more...

Aliases for SLC36A2 Gene

Aliases for SLC36A2 Gene

  • Solute Carrier Family 36 Member 2 2 3 4 5
  • Solute Carrier Family 36 (Proton/Amino Acid Symporter), Member 2 2 3
  • Proton-Coupled Amino Acid Transporter 2 3 4
  • Tramdorin-1 3 4
  • TRAMD1 3 4
  • PAT2 3 4
  • Proton/Amino Acid Transporter 2 4

External Ids for SLC36A2 Gene

Previous GeneCards Identifiers for SLC36A2 Gene

  • GC05M150695
  • GC05M150723
  • GC05M150674
  • GC05M145839

Summaries for SLC36A2 Gene

Entrez Gene Summary for SLC36A2 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]

GeneCards Summary for SLC36A2 Gene

SLC36A2 (Solute Carrier Family 36 Member 2) is a Protein Coding gene. Diseases associated with SLC36A2 include Iminoglycinuria and Hyperglycinuria. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include proton transmembrane transporter activity and glycine transmembrane transporter activity. An important paralog of this gene is SLC36A1.

UniProtKB/Swiss-Prot Summary for SLC36A2 Gene

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

Gene Wiki entry for SLC36A2 Gene

Additional gene information for SLC36A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC36A2 Gene

Genomics for SLC36A2 Gene

GeneHancer (GH) Regulatory Elements for SLC36A2 Gene

Promoters and enhancers for SLC36A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J151348 Promoter/Enhancer 0.8 EPDnew Ensembl 500.7 +1.2 1189 2.8 USF2 HMBOX1 KDM1A MYC SLC36A2 GM2A RPS14 ATP6V1G1P5 lnc-GM2A-2 RF00017-5010
GH05J151349 Enhancer 0.2 Ensembl 500.7 -1.4 -1411 0.8 SLC36A2 piR-33622 RF00017-5010
GH05J151446 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 -101.0 -100981 3.3 RXRA ZNF217 CTCF TCF12 MYC POLR2G USF1 GTF2E2 PHF8 FOS SLC36A1 ZNF300P1 SLC36A2 FAT2 ENSG00000271795 lnc-FAT2-2 ENSG00000253897
GH05J151387 Enhancer 0.7 Ensembl ENCODE 19 -40.1 -40129 2.6 TEAD4 NANOG ZFHX2 GLIS1 HNF4A SOX5 EGR2 POU5F1 SOX13 HNF4G SLC36A2 ENSG00000253897 SLC36A1 LOC100419720 lnc-SLC36A2-2 LOC105378234
GH05J151450 Enhancer 0.8 ENCODE 15.9 -104.1 -104115 2.7 NCOR1 JUND FOS TEAD1 ZKSCAN8 BCL11A TCF12 MAFF FOSL2 MAFK SLC36A2 SLC36A1 FAT2 ENSG00000271795 SPARC lnc-FAT2-2 ENSG00000253897
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC36A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC36A2

Top Transcription factor binding sites by QIAGEN in the SLC36A2 gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • RelA

Genomic Locations for SLC36A2 Gene

Genomic Locations for SLC36A2 Gene
chr5:151,314,972-151,347,590
(GRCh38/hg38)
Size:
32,619 bases
Orientation:
Minus strand
chr5:150,694,539-150,727,151
(GRCh37/hg19)
Size:
32,613 bases
Orientation:
Minus strand

Genomic View for SLC36A2 Gene

Genes around SLC36A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC36A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC36A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC36A2 Gene

Proteins for SLC36A2 Gene

  • Protein details for SLC36A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q495M3-S36A2_HUMAN
    Recommended name:
    Proton-coupled amino acid transporter 2
    Protein Accession:
    Q495M3
    Secondary Accessions:
    • Q495M4
    • Q495M6
    • Q6ZWK5
    • Q7Z6B5

    Protein attributes for SLC36A2 Gene

    Size:
    483 amino acids
    Molecular mass:
    53216 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC36A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC36A2 Gene

Post-translational modifications for SLC36A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SLC36A2
  • Biorbyt antibodies for SLC36A2

No data available for DME Specific Peptides for SLC36A2 Gene

Domains & Families for SLC36A2 Gene

Gene Families for SLC36A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC36A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC36A2 Gene

GenScript: Design optimal peptide antigens:
  • Tramdorin-1 (S36A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q495M3

UniProtKB/Swiss-Prot:

S36A2_HUMAN :
  • Belongs to the amino acid/polyamine transporter 2 family.
Family:
  • Belongs to the amino acid/polyamine transporter 2 family.
genes like me logo Genes that share domains with SLC36A2: view

Function for SLC36A2 Gene

Molecular function for SLC36A2 Gene

UniProtKB/Swiss-Prot Function:
Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity).

Phenotypes From GWAS Catalog for SLC36A2 Gene

Gene Ontology (GO) - Molecular Function for SLC36A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005280 amino acid:proton symporter activity IBA 21873635
GO:0015078 proton transmembrane transporter activity IBA 21873635
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015180 L-alanine transmembrane transporter activity IBA 21873635
GO:0015187 glycine transmembrane transporter activity IMP,IBA 19033659
genes like me logo Genes that share ontologies with SLC36A2: view
genes like me logo Genes that share phenotypes with SLC36A2: view

Human Phenotype Ontology for SLC36A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC36A2

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC36A2 Gene

Localization for SLC36A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC36A2 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC36A2 gene
Compartment Confidence
plasma membrane 4
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC36A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SLC36A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC36A2 Gene

Pathways & Interactions for SLC36A2 Gene

genes like me logo Genes that share pathways with SLC36A2: view

Gene Ontology (GO) - Biological Process for SLC36A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA 21873635
GO:0006811 ion transport TAS --
GO:0006865 amino acid transport TAS --
GO:0015808 L-alanine transport IBA 21873635
GO:0015816 glycine transport IBA 21873635
genes like me logo Genes that share ontologies with SLC36A2: view

No data available for SIGNOR curated interactions for SLC36A2 Gene

Drugs & Compounds for SLC36A2 Gene

(4) Drugs for SLC36A2 Gene - From: DrugBank, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxitriptan Approved, Investigational Nutra Inhibition, Inhibitor 0
Cycloserine Approved Pharma Transporter 124
Sarcosine Investigational Pharma GlyT1 inhibitor 0
Α-METHYL-D,L-TRYPTOPHAN Pharma 0

(1) Additional Compounds for SLC36A2 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-methyl-D,L-tryptophan
Inhibition, Inhibitor
genes like me logo Genes that share compounds with SLC36A2: view

Transcripts for SLC36A2 Gene

mRNA/cDNA for SLC36A2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC36A2 Gene

No ASD Table

Relevant External Links for SLC36A2 Gene

GeneLoc Exon Structure for
SLC36A2

Expression for SLC36A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC36A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC36A2 Gene

This gene is overexpressed in Muscle - Skeletal (x25.7), Kidney - Cortex (x19.5), and Nerve - Tibial (x6.2).

Protein differential expression in normal tissues from HIPED for SLC36A2 Gene

This gene is overexpressed in Urine (63.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC36A2 Gene



Protein tissue co-expression partners for SLC36A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC36A2

SOURCE GeneReport for Unigene cluster for SLC36A2 Gene:

Hs.483877

mRNA Expression by UniProt/SwissProt for SLC36A2 Gene:

Q495M3-S36A2_HUMAN
Tissue specificity: Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus.

Evidence on tissue expression from TISSUES for SLC36A2 Gene

  • Kidney(4.6)
  • Muscle(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC36A2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
Abdomen:
  • kidney
Pelvis:
  • ureter
genes like me logo Genes that share expression patterns with SLC36A2: view

Orthologs for SLC36A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC36A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC36A2 31 30
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC36A2 31 30
  • 88.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC36A2 31 30
  • 87.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc36a2 17 31 30
  • 84.52 (n)
rat
(Rattus norvegicus)
Mammalia Slc36a2 30
  • 84.13 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC36A2 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 60 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 62 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii slc36a1 31
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000473 30
  • 51.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13384 31
  • 36 (a)
ManyToMany
CG1139 31
  • 33 (a)
ManyToMany
CG7888 31
  • 33 (a)
ManyToMany
CG16700 31
  • 32 (a)
ManyToMany
CG8785 31
  • 30 (a)
ManyToMany
path 31
  • 29 (a)
ManyToMany
CG32079 31
  • 29 (a)
ManyToMany
CG43693 31
  • 28 (a)
ManyToMany
CG32081 31
  • 26 (a)
ManyToMany
CG4991 31
  • 26 (a)
ManyToMany
CG12943 31
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T27A1.5 31
  • 32 (a)
ManyToMany
Y43F4B.7 31
  • 31 (a)
ManyToMany
C44B7.6 31
  • 27 (a)
ManyToMany
Y38H6C.17 31
  • 25 (a)
ManyToMany
H32K16.1 31
  • 24 (a)
ManyToMany
F59B2.2 31
  • 23 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT4 31
  • 17 (a)
ManyToMany
AVT3 31
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToMany
Species where no ortholog for SLC36A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC36A2 Gene

ENSEMBL:
Gene Tree for SLC36A2 (if available)
TreeFam:
Gene Tree for SLC36A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC36A2: view image

Paralogs for SLC36A2 Gene

(3) SIMAP similar genes for SLC36A2 Gene using alignment to 4 proteins:

  • S36A2_HUMAN
  • E5RGH8_HUMAN
  • E5RJJ5_HUMAN
  • H0YB43_HUMAN

Pseudogenes.org Pseudogenes for SLC36A2 Gene

genes like me logo Genes that share paralogs with SLC36A2: view

Variants for SLC36A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC36A2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
713574 Likely Benign: not provided 151,342,880(-) C/G INTRON_VARIANT
715954 Likely Benign: not provided 151,322,100(-) G/A MISSENSE_VARIANT
725463 Likely Benign: not provided 151,325,318(-) C/T SYNONYMOUS_VARIANT
725585 Benign: not provided 151,317,022(-) G/T MISSENSE_VARIANT
727216 Benign: not provided 151,342,902(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC36A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC36A2 Gene

Variant ID Type Subtype PubMed ID
nsv1032558 CNV loss 25217958

Variation tolerance for SLC36A2 Gene

Residual Variation Intolerance Score: 88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.96; 68.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC36A2 Gene

Human Gene Mutation Database (HGMD)
SLC36A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC36A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC36A2 Gene

Disorders for SLC36A2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SLC36A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
iminoglycinuria
  • iminoglycinuria, digenic
hyperglycinuria
  • glycinuria with or without oxalate urolithiasis
otosalpingitis
  • eustachian salpingitis
eustachian tube disease
  • eustachian tube disorder
non-suppurative otitis media
  • nonsuppurative otitis media
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S36A2_HUMAN
  • Hyperglycinuria (HG) [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 mutations affecting the gene represented in this entry.
  • 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 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.

Additional Disease Information for SLC36A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC36A2: view

No data available for Genatlas for SLC36A2 Gene

Publications for SLC36A2 Gene

  1. Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. (PMID: 19033659) Bröer S … Rasko JE (The Journal of clinical investigation 2008) 3 4 23 54
  2. Organization and expression of the SLC36 cluster of amino acid transporter genes. (PMID: 15058382) Bermingham JR … Pennington J (Mammalian genome : official journal of the International Mammalian Genome Society 2004) 3 4 23 54
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41 54
  4. Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations. (PMID: 19845895) Koskinen LL … Saavalainen P (Tissue antigens 2009) 3 41 54
  5. A cluster of proton/amino acid transporter genes in the human and mouse genomes. (PMID: 12809675) Boll M … Daniel H (Genomics 2003) 3 4 54

Products for SLC36A2 Gene

  • Biorbyt antibodies for SLC36A2

Sources for SLC36A2 Gene