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

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; AllianceGenome:HGNC:26441
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: mouse all
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Genomic context

Location:: 5p15.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (1225381..1246189)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (1132355..1153096)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (1225496..1246304)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in SLC6A18 gene is associated with stress fracture.
Title: Novel candidate genes putatively involved in stress fracture predisposition detected by whole-exome sequencing.
These results suggest that SLC6A18 or neighboring genes are associated with increased susceptibility to myocardial infarction.
Title: Association study: SLC6A18 gene and myocardial infarction.
variable number of tandem repeats in SLC6A18 are not associated with hypertension.
Title: Analysis of VNTRs in the solute carrier family 6, member 18 (SLC6A18) and lack of association with hypertension.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
Title: A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese.

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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

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

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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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 neutral L-amino acid:sodium:chloride symporter activity	ISS Inferred from Sequence or Structural Similarity 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 neutral amino acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in renal amino acid absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in brush border membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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

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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)

NM_182632.3 → NP_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:17 → 591

SLC6sbd_B0AT3; glycine transporter, B0AT3; solute-binding domain