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Aliases for SLC6A5 Gene

Aliases for SLC6A5 Gene

  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 5 2 3
  • GLYT2 3 4 6
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Glycine), Member 5 2 3
  • Glycine Transporter 2 2 3
  • GLYT-2 3 4
  • HKPX3 3 6
  • NET1 3 4
  • Sodium- And Chloride-Dependent Glycine Transporter 2 3
  • Solute Carrier Family 6 Member 5 4

External Ids for SLC6A5 Gene

Previous HGNC Symbols for SLC6A5 Gene

  • NET1

Previous GeneCards Identifiers for SLC6A5 Gene

  • GC11P021759
  • GC11P021422
  • GC11P020660
  • GC11P020585
  • GC11P020574
  • GC11P020577
  • GC11P020304
  • GC11P020620

Summaries for SLC6A5 Gene

Entrez Gene Summary for SLC6A5 Gene

  • 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. [provided by RefSeq, Oct 2009]

GeneCards Summary for SLC6A5 Gene

SLC6A5 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 5) is a Protein Coding gene. Diseases associated with SLC6A5 include hyperekplexia 3 and slc6a5-related hyperekplexia. Among its related pathways are Signaling by FGFR and RhoGDI Pathway. GO annotations related to this gene include neurotransmitter:sodium symporter activity and glycine:sodium symporter activity. An important paralog of this gene is SLC6A4.

UniProtKB/Swiss-Prot for SLC6A5 Gene

  • Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses

Gene Wiki entry for SLC6A5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A5 Gene

Genomics for SLC6A5 Gene

Regulatory Elements for SLC6A5 Gene

Genomic Location for SLC6A5 Gene

Start:
20,599,400 bp from pter
End:
20,659,285 bp from pter
Size:
59,886 bases
Orientation:
Plus strand

Genomic View for SLC6A5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC6A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A5 Gene

Proteins for SLC6A5 Gene

  • Protein details for SLC6A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y345-SC6A5_HUMAN
    Recommended name:
    Sodium- and chloride-dependent glycine transporter 2
    Protein Accession:
    Q9Y345
    Secondary Accessions:
    • O95288
    • Q4VAM7
    • Q9BX77

    Protein attributes for SLC6A5 Gene

    Size:
    797 amino acids
    Molecular mass:
    87434 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC6A5 Gene

Proteomics data for SLC6A5 Gene at MOPED

Post-translational modifications for SLC6A5 Gene

  • Glycosylation at Asn343, Asn353, Asn358, and Asn364
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A5 Gene

Domains for SLC6A5 Gene

Gene Families for SLC6A5 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC6A5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC6A5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y345

UniProtKB/Swiss-Prot:

SC6A5_HUMAN :
  • Q9Y345
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A5 subfamily.
genes like me logo Genes that share domains with SLC6A5: view

Function for SLC6A5 Gene

Molecular function for SLC6A5 Gene

GENATLAS Biochemistry: solute carrier family 6,member A5,glycine transporter,expressed in brain and spinal cord
UniProtKB/Swiss-Prot Function: Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses

Gene Ontology (GO) - Molecular Function for SLC6A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0015375 glycine:sodium symporter activity IDA 16751771
genes like me logo Genes that share ontologies with SLC6A5: view
genes like me logo Genes that share phenotypes with SLC6A5: view

Animal Models for SLC6A5 Gene

MGI Knock Outs for SLC6A5:

miRNA for SLC6A5 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC6A5 Gene

Localization for SLC6A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC6A5 Gene COMPARTMENTS Subcellular localization image for SLC6A5 gene
Compartment Confidence
plasma membrane 4
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC6A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC6A5: view

Pathways for SLC6A5 Gene

genes like me logo Genes that share pathways with SLC6A5: view

Gene Ontology (GO) - Biological Process for SLC6A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9845349
GO:0006836 neurotransmitter transport IEA --
GO:0007268 synaptic transmission TAS 9845349
GO:0036233 glycine import IDA 16751771
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC6A5: view

Compounds for SLC6A5 Gene

(2) HMDB Compounds for SLC6A5 Gene

Compound Synonyms Cas Number PubMed IDs
Glycine
  • 2-Aminoacetate
56-40-6
Sodium
  • Sodium
7440-23-5

(1) Drugbank Compounds for SLC6A5 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Glycine
  • 2-Aminoacetic acid
56-40-6 target

(3) IUPHAR Ligand for SLC6A5 Gene

Ligand Type Action Affinity Pubmed IDs
Org 25543 Inhibitor Inhibition 7.7
ALX 1393 Inhibitor Inhibition
ALX 1405 Inhibitor Inhibition

(3) Novoseek inferred chemical compound relationships for SLC6A5 Gene

Compound -log(P) Hits PubMed IDs
sarcosine 89.5 4
nmda 50.8 1
gaba 39.4 1

(1) PharmGKB related drug/compound annotations for SLC6A5 Gene

Drug/compound Annotation
haloperidol CA
genes like me logo Genes that share compounds with SLC6A5: view

Transcripts for SLC6A5 Gene

mRNA/cDNA for SLC6A5 Gene

(8) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC6A5 Gene

Solute carrier family 6 (neurotransmitter transporter, glycine), member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1:
SP2: -

Relevant External Links for SLC6A5 Gene

GeneLoc Exon Structure for
SLC6A5
ECgene alternative splicing isoforms for
SLC6A5

Expression for SLC6A5 Gene

mRNA expression in normal human tissues for SLC6A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A5 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (12.8), Brain - Cerebellar Hemisphere (10.8), Brain - Cerebellum (8.0), Pituitary (7.3), and Testis (5.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC6A5 Gene

SOURCE GeneReport for Unigene cluster for SLC6A5 Gene Hs.136557

mRNA Expression by UniProt/SwissProt for SLC6A5 Gene

Q9Y345-SC6A5_HUMAN
Tissue specificity: Expressed in medulla, and to a lesser extent in spinal cord and cerebellum
genes like me logo Genes that share expressions with SLC6A5: view

Orthologs for SLC6A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A5 35
  • 99.33 (n)
  • 99.25 (a)
SLC6A5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A5 35
  • 92.1 (n)
  • 95.69 (a)
SLC6A5 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A5 35
  • 91.38 (n)
  • 94.59 (a)
SLC6A5 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a5 35
  • 88.69 (n)
  • 94.1 (a)
Slc6a5 16
Slc6a5 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A5 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A5 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a5 35
  • 88.94 (n)
  • 94.22 (a)
chicken
(Gallus gallus)
Aves SLC6A5 35
  • 77.22 (n)
  • 82.75 (a)
SLC6A5 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A5 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a5 35
  • 72.94 (n)
  • 77.1 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100149162 35
  • 68.84 (n)
  • 73.31 (a)
slc6a5 36
  • 72 (a)
OneToMany
slc6a5 36
  • 72 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010481 35
  • 55.13 (n)
  • 49.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5549 35
  • 58.3 (n)
  • 50.87 (a)
CG5549 36
  • 25 (a)
OneToMany
BG:DS03431.1 37
  • 36 (a)
CG7075 37
  • 34 (a)
CG4476 37
  • 35 (a)
DAT 37
  • 45 (a)
CG5549 37
  • 48 (a)
CG3252 37
  • 39 (a)
CG1698 37
  • 35 (a)
CG8850 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-4 37
  • 31 (a)
snf-3 37
  • 37 (a)
snf-5 37
  • 33 (a)
snf-9 37
  • 33 (a)
snf-12 37
  • 29 (a)
snf-2 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11020 36
  • 50 (a)
OneToOne
Species with no ortholog for SLC6A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC6A5 Gene

ENSEMBL:
Gene Tree for SLC6A5 (if available)
TreeFam:
Gene Tree for SLC6A5 (if available)

Paralogs for SLC6A5 Gene

Paralogs for SLC6A5 Gene

genes like me logo Genes that share paralogs with SLC6A5: view

Variants for SLC6A5 Gene

Sequence variations from dbSNP and Humsavar for SLC6A5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs867540 -- 20,622,353(-) GTGAG(C/T)GCCTC intron-variant
rs874679 -- 20,603,635(+) CAAAT(A/C)TCCCT intron-variant
rs874680 -- 20,603,641(+) TCCCT(C/T)CTGCC intron-variant
rs874681 -- 20,603,797(+) AGAAA(C/T)GGCTG intron-variant
rs881444 -- 20,602,003(+) GACTG(A/T)CTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A5 Gene

Variant ID Type Subtype PubMed ID
nsv469939 CNV Gain 18288195
nsv467720 CNV Gain 19166990
nsv509395 CNV Insertion 20534489
nsv523326 CNV Gain 19592680
nsv7703 CNV Loss 18451855
nsv39323 CNV Loss 16902084

Relevant External Links for SLC6A5 Gene

HapMap Linkage Disequilibrium report
SLC6A5
Human Gene Mutation Database (HGMD)
SLC6A5
Locus Specific Mutation Databases (LSDB)
SLC6A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A5 Gene

Disorders for SLC6A5 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for SLC6A5 Gene including...

Search for SLC6A5 Gene in MalaCards »

(1) OMIM Diseases for SLC6A5 Gene (604159)

UniProtKB/Swiss-Prot

SC6A5_HUMAN
  • Hyperekplexia 3 (HKPX3) [MIM:614618]: A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life. {ECO:0000269 PubMed:16751771}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for SLC6A5 Gene

Disease -log(P) Hits PubMed IDs
hyperekplexia 89.7 9
schizophrenia 12.8 5

Relevant External Links for SLC6A5

GeneTests
SLC6A5
GeneReviews
SLC6A5
Genetic Association Database (GAD)
SLC6A5
Human Genome Epidemiology (HuGE) Navigator
SLC6A5
genes like me logo Genes that share disorders with SLC6A5: view

Publications for SLC6A5 Gene

  1. Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome. (PMID: 9845349) Morrow J.A. … Hill D.R. (FEBS Lett. 1998) 2 3 4 23
  2. Characterization of multiple forms of the human glycine transporter type-2. (PMID: 10381548) Gallagher M.J. … Brunden K.R. (Brain Res. Mol. Brain Res. 1999) 3 4 23
  3. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. (PMID: 16751771) Rees M.I. … Harvey R.J. (Nat. Genet. 2006) 3 4 23
  4. Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia. (PMID: 18638388) Deng X. … Fukumaki Y. (BMC Psychiatry 2008) 3 23 48
  5. Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. (PMID: 16884688) Eulenburg V. … Betz H. (Biochem. Biophys. Res. Commun. 2006) 3 23 25

Products for SLC6A5 Gene

Sources for SLC6A5 Gene

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