About   Help   FAQ
Slc6a5 Gene Detail
Summary
  • Symbol
    Slc6a5
  • Name
    solute carrier family 6 (neurotransmitter transporter, glycine), member 5
  • Synonyms
    Glyt2
  • Feature Type
    protein coding gene
  • IDs
    MGI:105090
    NCBI Gene: 104245
  • Gene Overview
    MyGene.info: SLC6A5
Location & Maps
more
  • Sequence Map
    Chr7:49910146-49963856 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      53711 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 31.71 cM, cytoband B3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SLC6A5, solute carrier family 6 member 5
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SLC6A5, solute carrier family 6 member 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GLYT2, GLYT-2, HKPX3, NET1
  • Links
    NCBI Gene ID: 9152
    neXtProt AC: NX_Q9Y345

  • Chr Location
    11p15.1; chr11:20599400-20659285 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Slc6a5 mouse models; 1 with human SLC6A5 associations

Human Disease Mouse Models
       Hyperekplexia 3; HKPX3   OMIM: 614618 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 3 genetic backgrounds
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Spontaneous
    1
  • Targeted
    3
  • Incidental Mutations
Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000059001 VEGA Gene Model | MGI Sequence Detail 53711 C57BL/6J ±  kb
transcript OTTMUST00000144764 VEGA | MGI Sequence Detail 7065 Not Applicable  
polypeptide OTTMUSP00000075423 VEGA | MGI Sequence Detail 791 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    553 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000015190 sodium- and chloride-dependent glycine transporter 2
  • InterPro Domains
    IPR000175 Sodium:neurotransmitter symporter
Molecular
Reagents
less
  • All nucleic 10
    cDNA 8
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-32130
References
more
  • Summaries
    All 47
    Developmental Gene Expression 11
    Diseases 1
    Gene Ontology 5
    Phenotypes 8
  • Earliest
    J:22931 Jursky F, et al., Localization of glycine neurotransmitter transporter (GLYT2) reveals correlation with the distribution of glycine receptor. J Neurochem. 1995 Mar;64(3):1026-33
  • Latest
    J:228503 Altieri SC, et al., En1 directs superior olivary complex neuron positioning, survival, and expression of FoxP1. Dev Biol. 2015 Dec 1;408(1):99-108

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/22/2016
MGI 6.04
The Jackson Laboratory