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    SLC36A2 solute carrier family 36 member 2 [ Homo sapiens (human) ]

    Gene ID: 153201, updated on 9-Dec-2024

    Summary

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    Official Symbol
    SLC36A2provided by HGNC
    Official Full Name
    solute carrier family 36 member 2provided by HGNC
    Primary source
    HGNC:HGNC:18762
    See related
    Ensembl:ENSG00000186335 MIM:608331; AllianceGenome:HGNC:18762
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAT2; TRAMD1
    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 are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]
    Expression
    Restricted expression toward kidney (RPKM 31.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC36A2 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151314972..151347559, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151853922..151886528, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150694533..150727120, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23455 Neighboring gene ganglioside GM2 activator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23456 Neighboring gene solute carrier family 36 member 3 Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150726633-150727546 Neighboring gene uncharacterized LOC105378234 Neighboring gene solute carrier family 36 member 1 Neighboring gene mediator complex subunit 13 pseudogene Neighboring gene RUN domain containing 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The proton/amino acid cotransporter PAT2 is expressed in neurons with a different subcellular localization than its paralog PAT1. Rubio-Aliaga I, et al. J Biol Chem, 2004 Jan 23. PMID 14600155
    2. Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling. Shi J, et al. World Neurosurg, 2022 Apr. PMID 35092815
    3. Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. Bröer S, et al. J Clin Invest, 2008 Dec. PMID 19033659, Free PMC Article
    4. A cluster of proton/amino acid transporter genes in the human and mouse genomes. Boll M, et al. Genomics, 2003 Jul. PMID 12809675
    5. ASC-1, PAT2, and P2RX5 are cell surface markers for white, beige, and brown adipocytes. Ussar S, et al. Sci Transl Med, 2014 Jul 30. PMID 25080478, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling.
      Title: Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling.
    2. The amino acid transporter PAT2 and the purinergic receptor P2RX5 are cell surface markers expressed in classical brown and beige adipocytes.
      Title: ASC-1, PAT2, and P2RX5 are cell surface markers for white, beige, and brown adipocytes.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hyperglycinuria
    MedGen: C0543541 OMIM: 138500 GeneReviews: Not available
    		Compare labs
    Iminoglycinuria
    MedGen: C0268654 OMIM: 242600 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16051, MGC119658, MGC119660

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-alanine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-proline transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables amino acid:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables amino acid:proton symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amino acid:proton symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glycine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables proline:proton symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-alanine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in amino acid transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in glycine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in proline transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proline transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proline transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proton transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in recycling endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in vacuolar membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    proton-coupled amino acid transporter 2
    Names
    solute carrier family 36 (proton/amino acid symporter), member 2
    tramdorin-1
    transmembrane domain rich protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027745.1 RefSeqGene

      Range
      5032..37619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_181776.3 → NP_861441.2  proton-coupled amino acid transporter 2

      See identical proteins and their annotated locations for NP_861441.2

      Status: REVIEWED

      Source sequence(s)
      AC008385, AY162214, BC101101, DC362112
      Consensus CDS
      CCDS4315.1
      UniProtKB/Swiss-Prot
      Q495M3, Q495M4, Q495M6, Q6ZWK5, Q7Z6B5
      UniProtKB/TrEMBL
      E5RJJ5
      Related
      ENSP00000334223.4, ENST00000335244.9
      Conserved Domains (1) summary
      cl00456
      Location:52 → 463
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      151314972..151347559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268377.5 → XP_005268434.1  proton-coupled amino acid transporter 2 isoform X1

      UniProtKB/TrEMBL
      E5RJJ5
      Related
      ENSP00000430535.1, ENST00000521967.1
      Conserved Domains (1) summary
      cl00456
      Location:52 → 365
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    2. XM_017009083.3 → XP_016864572.1  proton-coupled amino acid transporter 2 isoform X2

      Conserved Domains (1) summary
      cl00456
      Location:52 → 281
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      151853922..151886528 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351761.1 → XP_054207736.1  proton-coupled amino acid transporter 2 isoform X1

      UniProtKB/TrEMBL
      E5RJJ5

    2. XM_054351762.1 → XP_054207737.1  proton-coupled amino acid transporter 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q495M3.1 GenPept UniProtKB/Swiss-Prot:Q495M3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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