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Aliases for SLC6A5 Gene

Aliases for SLC6A5 Gene

  • Solute Carrier Family 6 Member 5 2 3 4 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Glycine), Member 5 2 3
  • GLYT-2 3 4
  • GLYT2 3 4
  • NET1 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 5 2
  • Sodium- And Chloride-Dependent Glycine Transporter 2 3
  • 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and glycine:sodium symporter activity. An important paralog of this gene is SLC6A14.

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

Additional gene information for SLC6A5 Gene

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

Genomics for SLC6A5 Gene

GeneHancer (GH) Regulatory Elements for SLC6A5 Gene

Promoters and enhancers for SLC6A5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I020599 Enhancer 0.7 ENCODE 550.8 +0.5 510 0.2 SIN3A ZNF644 ZBTB40 CHAMP1 ZNF766 POLR2A VEZF1 ZNF143 EZH2 ZNF197 SLC6A5 GC11P020610
GH11I020600 Promoter 0.6 EPDnew 550.8 0.0 -13 0.1 EZH2 SLC6A5 PIR46720 GC11P020586
GH11I020366 Enhancer 1.1 Ensembl ENCODE 9.2 -231.4 -231386 3.5 PKNOX1 ATF1 ARNT SIN3A BRCA1 ATF7 FOS JUNB NCOA1 TSHZ1 HTATIP2 SLC6A5 PRMT3
GH11I020596 Enhancer 0.6 FANTOM5 12 -2.3 -2345 0.1 CTBP1 GMEB1 SMARCA4 NRF1 MAX DPF2 MGA EZH2 SLC6A5 PIR46720 GC11P020586
GH11I020621 Enhancer 0.3 ENCODE 11.4 +22.5 22510 0.6 CTBP2 SLC6A5 NELL1 LOC105376586 GC11P020610 GC11P020638
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC6A5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC6A5 gene promoter:

Genomic Locations for SLC6A5 Gene

Genomic Locations for SLC6A5 Gene
chr11:20,599,400-20,659,285
(GRCh38/hg38)
Size:
59,886 bases
Orientation:
Plus strand
chr11:20,620,946-20,680,831
(GRCh37/hg19)

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

Post-translational modifications for SLC6A5 Gene

  • Glycosylation at isoforms=343, isoforms=353, isoforms=358, and isoforms=364

Other Protein References for SLC6A5 Gene

No data available for DME Specific Peptides for SLC6A5 Gene

Domains & Families for SLC6A5 Gene

Gene Families for SLC6A5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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.

Phenotypes From GWAS Catalog for SLC6A5 Gene

Gene Ontology (GO) - Molecular Function for SLC6A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015187 glycine transmembrane transporter activity IEA --
GO:0015293 symporter activity IEA --
GO:0015375 glycine:sodium symporter activity IDA,TAS --
GO:0046872 metal ion binding IEA --
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:

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC6A5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC6A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 9845349
genes like me logo Genes that share ontologies with SLC6A5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0006836 neurotransmitter transport IEA --
GO:0007268 chemical synaptic transmission TAS 9845349
GO:0015816 glycine transport IEA --
GO:0036233 glycine import IDA 16751771
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 254
Haloperidol Approved Pharma Antagonist Antipsychotic drug 155
Amoxapine Approved Pharma Antagonist GLYT2a transport activity inhibitor 0
Sarcosine Investigational Pharma 0
Bitopertin Investigational Pharma Glycine reuptake inhibitor(GlyT1) 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(6) ApexBio Compounds for SLC6A5 Gene

Compound Action Cas Number
Amoxapine GLYT2a transport activity inhibitor 14028-44-5
LY 2365109 hydrochloride 868265-28-5
NFPS 405225-21-0
Org 24598 lithium salt 722456-08-8
Org 25543 hydrochloride GlyT2 inhibitor 495076-64-7
Sarcosine 107-97-1
genes like me logo Genes that share compounds with SLC6A5: view

Drug Products

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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SLC6A5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC6A5 Gene:

SLC6A5

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.

Evidence on tissue expression from TISSUES for SLC6A5 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • bronchus
  • heart
  • lung
  • trachea
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns 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 33 34
  • 99.33 (n)
cow
(Bos Taurus)
Mammalia SLC6A5 33 34
  • 92.1 (n)
dog
(Canis familiaris)
Mammalia SLC6A5 33 34
  • 91.38 (n)
rat
(Rattus norvegicus)
Mammalia Slc6a5 33
  • 88.94 (n)
mouse
(Mus musculus)
Mammalia Slc6a5 33 16 34
  • 88.69 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC6A5 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A5 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC6A5 33 34
  • 77.22 (n)
lizard
(Anolis carolinensis)
Reptilia SLC6A5 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a5 33
  • 72.94 (n)
zebrafish
(Danio rerio)
Actinopterygii slc6a5 33 34 34
  • 68.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5549 35 33 34
  • 58.3 (n)
DAT 35
  • 45 (a)
CG3252 35
  • 39 (a)
BG:DS03431.1 35
  • 36 (a)
CG1698 35
  • 35 (a)
CG4476 35
  • 35 (a)
CG8850 35
  • 35 (a)
CG7075 35
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010481 33
  • 55.13 (n)
worm
(Caenorhabditis elegans)
Secernentea snf-3 35
  • 37 (a)
snf-5 35
  • 33 (a)
snf-9 35
  • 33 (a)
snf-2 35
  • 31 (a)
snf-4 35
  • 31 (a)
snf-12 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11020 34
  • 50 (a)
OneToOne
Species where no ortholog for SLC6A5 was found in the sources mined by GeneCards:
  • 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

Variants for SLC6A5 Gene

Sequence variations from dbSNP and Humsavar for SLC6A5 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs113212012 likely-benign, Hyperekplexia 20,599,394(+) A/G upstream_transcript_variant
rs116313557 likely-benign, Hyperekplexia 20,654,891(+) G/A/T 3_prime_UTR_variant, non_coding_transcript_variant
rs121908493 pathogenic, Hyperekplexia 3 20,617,755(+) C/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs121908494 pathogenic, Hyperekplexia 3, Hyperekplexia 3 (HKPX3) [MIM:614618] 20,628,056(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121908495 pathogenic, Hyperekplexia 3 20,638,477(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv3891940 CNV loss 25118596
esv3891941 CNV loss 25118596
nsv39323 CNV deletion 16902084
nsv467720 CNV gain 19166990
nsv469939 CNV gain 18288195
nsv509395 CNV insertion 20534489
nsv523326 CNV gain 19592680
nsv553678 CNV gain 21841781
nsv7703 CNV deletion 18451855

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)

Additional Variant Information for SLC6A5 Gene

Human Gene Mutation Database (HGMD)
SLC6A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A5

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

Disorders for SLC6A5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyperekplexia 3
  • hkpx3
hyperekplexia
  • congenital stiff man syndrome
gnathodiaphyseal dysplasia
  • gdd
hypertonia
glycine encephalopathy
  • gce
- 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.

Additional Disease Information for SLC6A5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JA … Hill DR (FEBS letters 1998) 2 3 4 22 58
  2. 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 22 44 58
  3. Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. (PMID: 16884688) Eulenburg V … Betz H (Biochemical and biophysical research communications 2006) 3 22 25 58
  4. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. (PMID: 16751771) Rees MI … Harvey RJ (Nature genetics 2006) 3 4 22 58
  5. Characterization of multiple forms of the human glycine transporter type-2. (PMID: 10381548) Gallagher MJ … Brunden KR (Brain research. Molecular brain research 1999) 3 4 22 58

Products for SLC6A5 Gene

Sources for SLC6A5 Gene

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