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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:49559894-49613604 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 31.71 cM, cytoband B3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1676 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105090
 protein coding gene Chr7:49556733-49613612 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032301
 protein coding gene Chr7:50596600-50656882 (+)
A/J MGP_AJ_G0032280
 protein coding gene Chr7:49827801-49889131 (+)
AKR/J MGP_AKRJ_G0032216
 protein coding gene Chr7:51028039-51082835 (+)
BALB/cJ MGP_BALBcJ_G0032292
 protein coding gene Chr7:49498062-49558190 (+)
C3H/HeJ MGP_C3HHeJ_G0032005
 protein coding gene Chr7:51393028-51450488 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032785
 protein coding gene Chr7:52903000-52958364 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029791
 protein coding gene Chr7:53002720-53055900 (+)
CAST/EiJ MGP_CASTEiJ_G0031333
 protein coding gene Chr7:42810221-42865057 (+)
CBA/J MGP_CBAJ_G0031970
 protein coding gene Chr7:54694651-54753260 (+)
DBA/2J MGP_DBA2J_G0032127
 protein coding gene Chr7:49051623-49105333 (+)
FVB/NJ MGP_FVBNJ_G0032081
 protein coding gene Chr7:48988832-49041962 (+)
LP/J MGP_LPJ_G0032208
 protein coding gene Chr7:51536318-51593606 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032118
 protein coding gene Chr7:53780450-53840756 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032802
 protein coding gene Chr7:50003747-50062264 (+)
PWK/PhJ MGP_PWKPhJ_G0031053
 protein coding gene Chr7:42393086-42450651 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030894
 protein coding gene Chr7:38175602-38234472 (+)
WSB/EiJ MGP_WSBEiJ_G0031451
 protein coding gene Chr7:50659066-50716319 (+)



Homology
more
  • Human Ortholog
    SLC6A5, solute carrier family 6 member 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC6A5, solute carrier family 6 member 5
  • Synonyms
    GLYT-2, GLYT2, HKPX3, NET1
  • Links
    NCBI Gene ID: 9152
    neXtProt AC: NX_Q9Y345
    UniProt: Q9Y345

  • Chr Location
    11p15.1; chr11:20599594-20659285 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc6a5 mouse models; 1 with human SLC6A5 associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 4 alleles in 4 genetic backgrounds
    16 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.
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
    29
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    977
  • Tissues
    68
  • cDNA Data
    9
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039728 Ensembl Gene Model | MGI Sequence Detail 53711 C57BL/6J ±  kb
    transcript ENSMUST00000107605 Ensembl | MGI Sequence Detail 2467 Not Applicable  
    polypeptide ENSMUSP00000103230 Ensembl | MGI Sequence Detail 791 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000015190 sodium- and chloride-dependent glycine transporter 2
      (term hierarchy)
    • InterPro Domains
      IPR000175 Sodium:neurotransmitter symporter
      IPR037272 Sodium:neurotransmitter symporter superfamily
    • GlyGen
      Q761V0 9 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 9
      Primer pair 2
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-32130
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 22
      Diseases 2
      Gene Ontology 9
      Phenotypes 16
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory