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

Gene ID: 153201, updated on 27-Nov-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

  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

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