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Slc12a5 Gene Detail
Summary
  • Symbol
    Slc12a5
  • Name
    solute carrier family 12, member 5
  • Synonyms
    KCC2, mKIAA1176
  • Feature Type
    protein coding gene
  • IDs
    MGI:1862037
    NCBI Gene: 57138
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:164802766-164841651 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 85.28 cM, cytoband G2-G3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    821 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1862037
 protein coding gene Chr2:164802722-164841651 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026884
 protein coding gene Chr2:170482417-170523101 (+)
A/J MGP_AJ_G0026851
 protein coding gene Chr2:163501276-163541856 (+)
AKR/J MGP_AKRJ_G0026822
 protein coding gene Chr2:168382216-168422383 (+)
BALB/cJ MGP_BALBcJ_G0026860
 protein coding gene Chr2:163866855-163906947 (+)
C3H/HeJ MGP_C3HHeJ_G0026602
 protein coding gene Chr2:168728423-168771403 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027307
 protein coding gene Chr2:175416014-175464065 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024678
 protein coding gene Chr2:156909617-156948171 (+)
CAST/EiJ MGP_CASTEiJ_G0026060
 protein coding gene Chr2:169144504-169188070 (+)
CBA/J MGP_CBAJ_G0026579
 protein coding gene Chr2:181781309-181830941 (+)
DBA/2J MGP_DBA2J_G0026717
 protein coding gene Chr2:162667185-162706358 (+)
FVB/NJ MGP_FVBNJ_G0026683
 protein coding gene Chr2:161091857-161139799 (+)
LP/J MGP_LPJ_G0026819
 protein coding gene Chr2:170533946-170576441 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026702
 protein coding gene Chr2:185322909-185368889 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027364
 protein coding gene Chr2:168267978-168311163 (+)
PWK/PhJ MGP_PWKPhJ_G0025797
 protein coding gene Chr2:162270529-162310496 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025598
 protein coding gene Chr2:167174361-167220362 (+)
WSB/EiJ MGP_WSBEiJ_G0026133
 protein coding gene Chr2:169153674-169201558 (+)



Homology
more
  • Human Ortholog
    SLC12A5, solute carrier family 12 member 5
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC12A5, solute carrier family 12 member 5
  • Synonyms
    DEE34, EIEE34, EIG14, hKCC2, KCC2
  • Links
    NCBI Gene ID: 57468
    neXtProt AC: NX_Q9H2X9
    UniProt: Q9H2X9

  • Chr Location
    20q13.12; chr20:46021686-46060150 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc12a5 mouse models; 2 with human SLC12A5 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
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
    65 phenotypes from 6 alleles in 8 genetic backgrounds
    52 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.
Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    62
  • GO References
    11
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
    1074
  • Tissues
    97
  • cDNA Data
    85
  • Literature Summary
    43
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 57138 NCBI Gene Model | MGI Sequence Detail 38886 C57BL/6J ±  kb
    transcript NM_020333 RefSeq | MGI Sequence Detail 6042 C57BL/6  
    polypeptide Q91V14 UniProt | EBI | MGI Sequence Detail 1138 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 105
      Genomic 6
      cDNA 85
      Primer pair 12
      Other 2

      Microarray probesets 4
    References
    more
    • Summaries
      All 139
      Developmental Gene Expression 43
      Diseases 1
      Gene Ontology 11
      Phenotypes 52
    • Earliest
      J:63901 Haapa S, et al., An efficient DNA sequencing strategy based on the bacteriophage mu in vitro DNA transposition reaction. Genome Res. 1999 Mar;9(3):308-15
    • Latest
      J:354123 Huang Y, et al., Constitutive KCC2 Cell- and Synapse-Specifically Regulates NMDA Receptor Activity in the Spinal Cord. J Neurosci. 2024 Jan 24;44(4)
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory