Human Gene SLC36A2 (ENST00000335244.9) from GENCODE V44
Description: Homo sapiens solute carrier family 36 member 2 (SLC36A2), mRNA. (from RefSeq NM_181776) RefSeq Summary (NM_181776): 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]. Gencode Transcript: ENST00000335244.9 Gencode Gene: ENSG00000186335.9 Transcript (Including UTRs) Position: hg38 chr5:151,314,972-151,347,559 Size: 32,588 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr5:151,316,817-151,347,460 Size: 30,644 Coding Exon Count: 10
ID:S36A2_HUMAN DESCRIPTION: RecName: Full=Proton-coupled amino acid transporter 2; Short=Proton/amino acid transporter 2; AltName: Full=Solute carrier family 36 member 2; AltName: Full=Tramdorin-1; FUNCTION: Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cytoplasm (By similarity). TISSUE SPECIFICITY: Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus. DISEASE: Defects in SLC36A2 are a cause of hyperglycinuria (HG) [MIM:138500]. It is a condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. DISEASE: Defects in SLC36A2 are a cause of iminoglycinuria (IG) [MIM:242600]. It is 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. Note=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. SIMILARITY: Belongs to the amino acid/polyamine transporter 2 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01490 - Transmembrane amino acid transporter protein
ModBase Predicted Comparative 3D Structure on Q495M3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AY162214 - Homo sapiens proton/amino acid transporter 2 (PAT2) mRNA, complete cds. AK122630 - Homo sapiens cDNA FLJ16051 fis, clone KIDNE2000832. BC101100 - Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2, mRNA (cDNA clone IMAGE:40010273), complete cds. BC101101 - Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2, mRNA (cDNA clone MGC:119659 IMAGE:40010274), complete cds. BC101102 - Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2, mRNA (cDNA clone MGC:119660 IMAGE:40010277), complete cds. BC101103 - Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2, mRNA (cDNA clone MGC:119661 IMAGE:40010278), complete cds. KJ895675 - Synthetic construct Homo sapiens clone ccsbBroadEn_05069 SLC36A2 gene, encodes complete protein. KR711487 - Synthetic construct Homo sapiens clone CCSBHm_00024353 SLC36A2 (SLC36A2) mRNA, encodes complete protein. AK309575 - Homo sapiens cDNA, FLJ99616. AY228364 - Homo sapiens truncated SLC36A2 protein (SLC36A2) mRNA, partial cds. BX538285 - Homo sapiens mRNA; cDNA DKFZp779I1149 (from clone DKFZp779I1149). AK297682 - Homo sapiens cDNA FLJ57060 complete cds, highly similar to Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q495M3 (Reactome details) participates in the following event(s):
R-HSA-375405 SLC36A2 cotransports Gly, L-Pro with H+ from extracellular region to cytosol R-HSA-352230 Amino acid transport across the plasma membrane R-HSA-428559 Proton-coupled neutral amino acid transporters R-HSA-425374 Amino acid and oligopeptide SLC transporters R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules
US Server
