Gene Gene information from NCBI Gene database.
Entrez ID 153201
Gene name Solute carrier family 36 member 2
Gene symbol SLC36A2
Synonyms (NCBI Gene)
PAT2TRAMD1
Chromosome 5
Chromosome location 5q33.1
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs77010315 C>A Uncertain-significance, pathogenic, benign Coding sequence variant, missense variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
343
miRTarBase ID miRNA Experiments Reference
MIRT694168 hsa-miR-606 HITS-CLIP 23313552
MIRT694167 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT694166 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT694165 hsa-miR-940 HITS-CLIP 23313552
MIRT694164 hsa-miR-3929 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0005280 Function Amino acid:proton symporter activity IBA
GO:0005280 Function Amino acid:proton symporter activity IDA 12809675, 19033659
GO:0005280 Function Amino acid:proton symporter activity IEA
GO:0005280 Function Amino acid:proton symporter activity ISS
GO:0005297 Function Proline:proton symporter activity IDA 12809675, 19033659
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608331 18762 ENSG00000186335
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q495M3
Protein name Proton-coupled amino acid transporter 2 (Proton/amino acid transporter 2) (Solute carrier family 36 member 2) (Transmembrane domain rich protein 1) (Tramdorin-1)
Protein function Electrogenic proton/amino acid symporter with a high selectivity for the small side chains amino acids glycine, alanine and proline, where both L- and D-enantiomers are transported. Extension of the backbone length, as in beta-alanine and 4-amin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01490 Aa_trans 52 463 Transmembrane amino acid transporter protein Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus. {ECO:0000269|PubMed:15058382, ECO:0000269|PubMed:19033659}.
Sequence
Sequence length 483
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein digestion and absorption   Amino acid transport across the plasma membrane
Proton-coupled neutral amino acid transporters
Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CANNABIS DEPENDENCE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hyperglycinuria Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign ClinVar
CTD, ClinVar, HPO, Orphanet
CTD, ClinVar, HPO, Orphanet
CTD, ClinVar, HPO, Orphanet
CTD, ClinVar, HPO, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Iminoglycinuria Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign ClinVar
CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet
CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet
CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet
CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet
CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cerebral Infarction Ischemic stroke Pubtator 26352407 Associate
★☆☆☆☆
Found in Text Mining only
HYPERGLYCINURIA (disorder) Hyperglycinuria GENOMICS_ENGLAND_DG 19033659
★☆☆☆☆
Found in Text Mining only
HYPERGLYCINURIA (disorder) Hyperglycinuria UNIPROT_DG 19033659
★☆☆☆☆
Found in Text Mining only
HYPERGLYCINURIA (disorder) Hyperglycinuria CTD_human_DG
★☆☆☆☆
Found in Text Mining only
HYPERGLYCINURIA (disorder) Hyperglycinuria HPO_DG
★☆☆☆☆
Found in Text Mining only
Iminoglycinuria Iminoglycinuria BEFREE 19033659
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Iminoglycinuria Iminoglycinuria ORPHANET_DG 19033659
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Iminoglycinuria Iminoglycinuria GENOMICS_ENGLAND_DG 19033659
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Iminoglycinuria Iminoglycinuria UNIPROT_DG 19033659
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Iminoglycinuria Iminoglycinuria Pubtator 19033659 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)