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Aliases for SLC6A5 Gene

Aliases for SLC6A5 Gene

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

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for SLC6A5 Gene

SLC6A5 (Solute Carrier Family 6 Member 5) is a Protein Coding gene. Diseases associated with SLC6A5 include hyperekplexia 3 and hyperekplexia. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. 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

Chromosome:
11
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

Genes around SLC6A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 343, Asn 353, Asn 358, and Asn 364
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC6A5 Gene

Domains & Families for SLC6A5 Gene

Gene Families for SLC6A5 Gene

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 :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A5 subfamily.
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:0015375 glycine:sodium symporter activity IDA,TAS --
genes like me logo Genes that share ontologies with SLC6A5: view
genes like me logo Genes that share phenotypes with SLC6A5: view

Human Phenotype Ontology for SLC6A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC6A5 Gene

MGI Knock Outs for SLC6A5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for SLC6A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A5 Gene

Cell 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 5
cytosol 2
extracellular 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for SLC6A5 Gene

Pathways & Interactions 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:0055085 transmembrane transport IEA,TAS --
genes like me logo Genes that share ontologies with SLC6A5: view

No data available for SIGNOR curated interactions for SLC6A5 Gene

Drugs & Compounds for SLC6A5 Gene

(8) Drugs for SLC6A5 Gene - From: IUPHAR, DGIdb, Novoseek, DrugBank, HMDB, ApexBio, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 94
Haloperidol Approved Pharma Antagonist Antipsychotic drug 136
Amoxapine Approved Pharma Antagonist GLYT2a transport activity inhibitor 0
ALX 1393 Pharma Inhibition, Inhibitor 0
ALX 1405 Pharma Inhibition, Inhibitor 0

(3) Additional Compounds for SLC6A5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC6A5: view

Transcripts for SLC6A5 Gene

mRNA/cDNA for SLC6A5 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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) (x12.8), Brain - Cerebellar Hemisphere (x10.8), Brain - Cerebellum (x8.0), Pituitary (x7.3), and Testis (x5.3).

Protein differential expression in normal tissues from HIPED for SLC6A5 Gene

This gene is overexpressed in Spinal cord (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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 expression patterns with SLC6A5: view

Protein tissue co-expression partners for SLC6A5 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 99 (a)
OneToOne
SLC6A5 35
  • 99.33 (n)
  • 99.25 (a)
cow
(Bos Taurus)
Mammalia SLC6A5 36
  • 95 (a)
OneToOne
SLC6A5 35
  • 92.1 (n)
  • 95.69 (a)
dog
(Canis familiaris)
Mammalia SLC6A5 35
  • 91.38 (n)
  • 94.59 (a)
SLC6A5 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a5 16
Slc6a5 36
  • 94 (a)
OneToOne
Slc6a5 35
  • 88.69 (n)
  • 94.1 (a)
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 36
  • 25 (a)
OneToMany
BG:DS03431.1 37
  • 36 (a)
CG1698 37
  • 35 (a)
CG3252 37
  • 39 (a)
CG4476 37
  • 35 (a)
CG5549 37
  • 48 (a)
CG7075 37
  • 34 (a)
CG8850 37
  • 35 (a)
DAT 37
  • 45 (a)
CG5549 35
  • 58.3 (n)
  • 50.87 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-12 37
  • 29 (a)
snf-2 37
  • 31 (a)
snf-3 37
  • 37 (a)
snf-4 37
  • 31 (a)
snf-5 37
  • 33 (a)
snf-9 37
  • 33 (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

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
VAR_011591 -
rs1805091 - 20,626,834(+) TCACG(A/G)ATGCC reference, missense
VAR_011593 -
VAR_036160 A breast cancer sample
rs61736602 - 20,601,391(+) GCAGG(A/C)GGCCT reference, missense, utr-variant-5-prime

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

Variation tolerance for SLC6A5 Gene

Residual Variation Intolerance Score: 79.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.20; 95.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A5 Gene

HapMap Linkage Disequilibrium report
SLC6A5
Human Gene Mutation Database (HGMD)
SLC6A5

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

Disorders for SLC6A5 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SLC6A5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperekplexia 3
  • hkpx3
hyperekplexia
  • stiff-person syndrome
slc6a5-related hyperekplexia
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
gnathodiaphyseal dysplasia
  • levin syndrome 2
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC6A5

Genetic Association Database (GAD)
SLC6A5
Human Genome Epidemiology (HuGE) Navigator
SLC6A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A5
genes like me logo Genes that share disorders with SLC6A5: view

No data available for Genatlas for SLC6A5 Gene

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 67
  2. Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. (PMID: 16884688) Eulenburg V. … Betz H. (Biochem. Biophys. Res. Commun. 2006) 3 23 25 26
  3. 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
  4. 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 23
  5. Calpain-mediated proteolytic cleavage of the neuronal glycine transporter, GlyT2. (PMID: 14675166) Baliova M. … Jursky F. (J. Neurochem. 2004) 3 23

Products for SLC6A5 Gene

Sources for SLC6A5 Gene

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