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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
  • Tramdorin-1 3 4
  • TRAMD1 3 4
  • PAT2 3 4
  • Proton-Coupled Amino Acid Transporter 2 3
  • 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, Digenic and Hyperglycinuria. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amino acid transport across the plasma membrane. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and glycine transmembrane transporter activity. An important paralog of this gene is SLC36A1.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC36A2 Gene

Genomics for SLC36A2 Gene

Regulatory Elements for SLC36A2 Gene

Enhancers for SLC36A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G151450 1.1 Ensembl ENCODE 15.9 -104.1 -104116 2.7 BMI1 EGR1 CBX5 ZNF143 FOS ETV6 IKZF2 CREM JUNB ZEB2 SLC36A2 SLC36A1 FAT2 ENSG00000271795 SPARC LOC105378234 RNA5SP197 GC05M151478
GH05G151387 0.7 ENCODE 19 -40.5 -40458 2.0 ESRRA LEF1 ZSCAN4 TEAD4 CEBPG TCF12 ZFHX2 TRIM24 EGR2 SOX5 SLC36A2 ENSG00000253897 SLC36A1 LOC100419720
GH05G151446 1.1 ENCODE 11.1 -100.4 -100428 2.2 PKNOX1 FOXA2 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF300P1 SLC36A2 FAT2 SLC36A1 ENSG00000271795 LOC105378234 GC05M151478 RNA5SP197
GH05G151383 0.6 ENCODE 18.2 -35.6 -35645 0.2 ZNF639 TFDP1 MEF2D ZNF740 ZBTB11 ZKSCAN8 GTF2A2 SLC36A2 LOC100419720 SLC36A1
GH05G151382 0.6 ENCODE 18.2 -35.1 -35094 0.8 CTBP1 NFIC PKNOX1 NFIB FOSL2 FOS SLC36A2 ENSG00000253897 LOC100419720 SLC36A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC36A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC36A2 Gene

Chromosome:
5
Start:
151,314,978 bp from pter
End:
151,347,590 bp from pter
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

No data available for DME Specific Peptides for SLC36A2 Gene

Domains & Families for SLC36A2 Gene

Gene Families for SLC36A2 Gene

Protein Domains for SLC36A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC36A2 Gene

GenScript: Design optimal peptide antigens:

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).

Gene Ontology (GO) - Molecular Function for SLC36A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005280 hydrogen:amino acid symporter activity IBA --
GO:0015078 hydrogen ion transmembrane transporter activity IBA --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015180 L-alanine transmembrane transporter activity IBA,IEA --
GO:0015187 glycine transmembrane transporter activity IMP 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

Inhibitory RNA 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 5
extracellular 5
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC36A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005774 vacuolar membrane IBA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC36A2: view

Pathways & Interactions for SLC36A2 Gene

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

Interacting Proteins for SLC36A2 Gene

Gene Ontology (GO) - Biological Process for SLC36A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006865 amino acid transport TAS --
GO:0015808 L-alanine transport IEA --
GO:0015816 glycine transport IEA --
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 Nutra Inhibition, Inhibitor 0
Cycloserine Approved Pharma Transporter 108
Α-METHYL-D,L-TRYPTOPHAN Pharma 0
Sarcosine 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

Unigene Clusters for SLC36A2 Gene

Solute carrier family 36 (proton/amino acid symporter), member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
SLC36A2

Expression for SLC36A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SLC36A2 Gene



Protein tissue co-expression partners for SLC36A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC36A2 Gene:

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
Organs:
Head and neck:
  • brain
  • eye
  • head
Abdomen:
  • kidney
Pelvis:
  • ureter
genes like me logo Genes that share expression patterns with SLC36A2: view

Primer Products

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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia SLC36A2 34 35
  • 88.5 (n)
cow
(Bos Taurus)
Mammalia SLC36A2 34 35
  • 87.07 (n)
mouse
(Mus musculus)
Mammalia Slc36a2 34 16 35
  • 84.52 (n)
rat
(Rattus norvegicus)
Mammalia Slc36a2 34
  • 84.13 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC36A2 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 60 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 62 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii slc36a1 35
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000473 34
  • 51.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13384 35
  • 36 (a)
ManyToMany
CG1139 35
  • 33 (a)
ManyToMany
CG7888 35
  • 33 (a)
ManyToMany
CG16700 35
  • 32 (a)
ManyToMany
CG8785 35
  • 30 (a)
ManyToMany
CG32079 35
  • 29 (a)
ManyToMany
path 35
  • 29 (a)
ManyToMany
CG43693 35
  • 28 (a)
ManyToMany
CG32081 35
  • 26 (a)
ManyToMany
CG4991 35
  • 26 (a)
ManyToMany
CG12943 35
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T27A1.5 35
  • 32 (a)
ManyToMany
Y43F4B.7 35
  • 31 (a)
ManyToMany
C44B7.6 35
  • 27 (a)
ManyToMany
Y38H6C.17 35
  • 25 (a)
ManyToMany
H32K16.1 35
  • 24 (a)
ManyToMany
F59B2.2 35
  • 23 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT3 35
  • 17 (a)
ManyToMany
AVT4 35
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for SLC36A2 Gene

Paralogs for SLC36A2 Gene

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

Pseudogenes.org Pseudogenes for SLC36A2 Gene

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

Variants for SLC36A2 Gene

Sequence variations from dbSNP and Humsavar for SLC36A2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs77010315 Pathogenic, Hyperglycinuria (HG) [MIM:138500], Iminoglycinuria (IG) [MIM:242600] 151,343,594(+) GTGGG(A/C)CCATC reference, missense, utr-variant-5-prime
rs1000035131 -- 151,326,987(+) TTTGT(A/G)TTTTT intron-variant
rs1000088706 -- 151,327,239(+) TACCT(C/G)CATAA intron-variant
rs1000098602 -- 151,337,271(+) CCCAC(C/T)TTGGC intron-variant
rs1000175827 -- 151,321,454(+) GCTGG(A/G)ATCAC intron-variant

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)

Relevant External Links 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

(4) MalaCards diseases for SLC36A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
iminoglycinuria, digenic
  • iminoglycinuria
hyperglycinuria
  • glycinuria with or without oxalate nephrolithiasis
enamel erosion
tooth erosion
  • generalized erosion
- 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.

Relevant External Links for SLC36A2

Genetic Association Database (GAD)
SLC36A2
Human Genome Epidemiology (HuGE) Navigator
SLC36A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC36A2
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) Broer S. … Rasko J.E. (J. Clin. Invest. 2008) 3 4 22 64
  2. Organization and expression of the SLC36 cluster of amino acid transporter genes. (PMID: 15058382) Bermingham J.R. Jr. … Pennington J. (Mamm. Genome 2004) 3 4 22 64
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  4. Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations. (PMID: 19845895) Koskinen L.L. … Saavalainen P. (Tissue Antigens 2009) 3 46 64
  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 64

Products for SLC36A2 Gene

Sources for SLC36A2 Gene

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