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SLC6A18 solute carrier family 6 member 18 [ Homo sapiens (human) ]

Gene ID: 348932, updated on 8-Jul-2021

Summary

Official Symbol
SLC6A18provided by HGNC
Official Full Name
solute carrier family 6 member 18provided by HGNC
Primary source
HGNC:HGNC:26441
See related
Ensembl:ENSG00000164363 MIM:610300
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Xtrp2
Summary
The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]
Expression
Restricted expression toward kidney (RPKM 7.1) See more
Orthologs
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Genomic context

See SLC6A18 in Genome Data Viewer
Location:
5p15.33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (1225381..1246189)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1225496..1246304)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928857 Neighboring gene solute carrier family 6 member 19 Neighboring gene MNS16A minisatellite promoter Neighboring gene telomerase reverse transcriptase Neighboring gene TERT enhancer in intron 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-02-02)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2021-02-02)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

General gene information

Homology

Clone Names

  • FLJ31236

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT contributes_to amino acid transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in amino acid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amino acid transport TAS
Traceable Author Statement
more info
 
involved_in neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in brush border membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
inactive sodium-dependent neutral amino acid transporter B(0)AT3
Names
sodium channel-like protein
sodium- and chloride-dependent transporter XTRP2
sodium-dependent neutral amino acid transporter B(0)AT3
solute carrier family 6 (neurotransmitter transporter), member 18
solute carrier family 6 (neutral amino acid transporter), member 18
system B(0) neutral amino acid transporter AT3

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.

mRNA and Protein(s)

  1. NM_182632.3NP_872438.2  inactive sodium-dependent neutral amino acid transporter B(0)AT3

    See identical proteins and their annotated locations for NP_872438.2

    Status: VALIDATED

    Source sequence(s)
    AK055798, BC056757
    Consensus CDS
    CCDS3860.1
    UniProtKB/Swiss-Prot
    Q96N87
    Related
    ENSP00000323549.3, ENST00000324642.4
    Conserved Domains (1) summary
    cd11517
    Location:17591
    SLC6sbd_B0AT3; glycine transporter, B0AT3; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    1225381..1246189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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