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SLC6A5 solute carrier family 6 member 5 [ Homo sapiens (human) ]

Gene ID: 9152, updated on 13-Mar-2020

Summary

Official Symbol
SLC6A5provided by HGNC
Official Full Name
solute carrier family 6 member 5provided by HGNC
Primary source
HGNC:HGNC:11051
See related
Ensembl:ENSG00000165970 MIM:604159
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
NET1; GLYT2; HKPX3; GLYT-2
Summary
This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See SLC6A5 in Genome Data Viewer
Location:
11p15.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (20599494..20659285)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (20620946..20676610)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376584 Neighboring gene high mobility group box 1 pseudogene 40 Neighboring gene uncharacterized LOC105376586 Neighboring gene neural EGFL like 1 Neighboring gene uncharacterized LOC105376585

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
Hyperekplexia 3 Compare labs

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycine:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine:sodium symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
glycine import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
synaptic transmission, glycinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, glycinergic IMP
Inferred from Mutant Phenotype
more info
PubMed 
transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
glycinergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
sodium- and chloride-dependent glycine transporter 2
Names
solute carrier family 6 (neurotransmitter transporter, glycine), member 5

NCBI Reference Sequences (RefSeq)

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_013086.2 RefSeqGene

    Range
    5001..60665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318369.2NP_001305298.1  sodium- and chloride-dependent glycine transporter 2 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC090707
    UniProtKB/Swiss-Prot
    Q9Y345
    UniProtKB/TrEMBL
    Q4VAM4
    Conserved Domains (1) summary
    cl00456
    Location:1553
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. NM_004211.5NP_004202.4  sodium- and chloride-dependent glycine transporter 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC090707
    Consensus CDS
    CCDS7854.1
    Related
    ENSP00000434364.1, ENST00000525748.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    20599494..20659285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018545.2XP_016874034.1  sodium- and chloride-dependent glycine transporter 2 isoform X2

  2. XM_017018544.2XP_016874033.1  sodium- and chloride-dependent glycine transporter 2 isoform X1

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