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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
  • Gene Overview
    MyGene.info: SLC12A5
Location & Maps
more
  • Sequence Map
    Chr2:164960802-164999731 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      38930 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 85.28 cM, cytoband G2-G3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SLC12A5, solute carrier family 12 member 5
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SLC12A5, solute carrier family 12 member 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EIEE34, EIG14, hKCC2, KCC2
  • Links
    NCBI Gene ID: 57468
    neXtProt AC: NX_Q9H2X9

  • Chr Location
    20q13.12; chr20:46021690-46060150 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human SLC12A5 associations

Human Disease Mouse Models
       Epilepsy, Idiopathic Generalized, Susceptibility to, 14; EIG14   OMIM: 616685
Epileptic Encephalopathy, Early Infantile, 34; EIEE34   OMIM: 616645
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    46 phenotypes from 5 alleles in 7 genetic backgrounds
    22 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
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  • 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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019699 VEGA Gene Model | MGI Sequence Detail 38930 C57BL/6J ±  kb
transcript OTTMUST00000137740 VEGA | MGI Sequence Detail 3574 Not Applicable  
polypeptide OTTMUSP00000072499 VEGA | MGI Sequence Detail 1138 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    101 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 91
    Genomic 5
    cDNA 83
    Primer pair 3

    Microarray probesets 4
References
more
  • Summaries
    All 76
    Developmental Gene Expression 27
    Gene Ontology 8
    Phenotypes 22
  • 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:229930 Nechiporuk T, et al., The REST remodeling complex protects genomic integrity during embryonic neurogenesis. Elife. 2016;5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory