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Lrrc8a Gene Detail
Summary
  • Symbol
    Lrrc8a
  • Name
    leucine rich repeat containing 8A
  • Synonyms
    ebo, Lrrc8, mKIAA1437
  • Feature Type
    protein coding gene
  • IDs
    MGI:2652847
    NCBI Gene: 241296
  • Gene Overview
    MyGene.info: LRRC8A
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:30237769-30263790 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 21.41 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    48 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2652847
protein coding gene Chr2:30237715-30263790 (.)
129S1/SvImJ MGP_129S1SvImJ_G0025559
protein coding gene Chr2:28455957-28482064 (+)
A/J MGP_AJ_G0025537
protein coding gene Chr2:27317245-27343315 (+)
AKR/J MGP_AKRJ_G0025506
protein coding gene Chr2:28253385-28279460 (+)
BALB/cJ MGP_BALBcJ_G0025533
protein coding gene Chr2:27446043-27472118 (+)
C3H/HeJ MGP_C3HHeJ_G0025294
protein coding gene Chr2:28180413-28208028 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025978
protein coding gene Chr2:29391053-29417133 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023386
protein coding gene Chr2:26097004-26124452 (+)
CAST/EiJ MGP_CASTEiJ_G0024756
protein coding gene Chr2:28073798-28099817 (+)
CBA/J MGP_CBAJ_G0025271
protein coding gene Chr2:30393892-30420041 (+)
DBA/2J MGP_DBA2J_G0025404
protein coding gene Chr2:27111390-27137471 (+)
FVB/NJ MGP_FVBNJ_G0025367
protein coding gene Chr2:26927421-26953944 (+)
LP/J MGP_LPJ_G0025490
protein coding gene Chr2:28364065-28390150 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025397
protein coding gene Chr2:30278601-30304671 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026036
protein coding gene Chr2:28166141-28192205 (+)
PWK/PhJ MGP_PWKPhJ_G0024503
protein coding gene Chr2:26947362-26976112 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024303
protein coding gene Chr2:28281391-28309883 (+)
WSB/EiJ MGP_WSBEiJ_G0024824
protein coding gene Chr2:28291232-28317288 (+)



Homology
more
  • Human Ortholog
    LRRC8A, leucine rich repeat containing 8 VRAC subunit A
  • Vertebrate Orthologs
    12
  • Human Ortholog
    LRRC8A, leucine rich repeat containing 8 VRAC subunit A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AGM5, LRRC8, SWELL1
  • Links
    NCBI Gene ID: 56262
    neXtProt AC: NX_Q8IWT6
    UniProt: Q8IWT6

  • Chr Location
    9q34.11; chr9:128882112-128918042 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 18617
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;2 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: LRRC8A
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human LRRC8A associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    45 phenotypes from 1 allele in 1 genetic background
    3 images
    12 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous for a knock-out allele exhibit prenatal lethality and premature death, growth retardation, sterility, multiple tissue abnormalities, a severe block in early thymic development, and impaired peripheral T cell function. B cell development is modestly impaired but B cell function is normal.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 241296 NCBI Gene Model | MGI Sequence Detail 26022 C57BL/6J ±  kb
transcript NM_177725 RefSeq | MGI Sequence Detail 4254 C57BL/6  
polypeptide Q80WG5 UniProt | EBI | MGI Sequence Detail 810 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 5
    cDNA 5

    Microarray probesets 1
Other
Accession IDs
less
MGD-MRK-35938, MGI:107466
References
more
  • Summaries
    All 35
    Gene Ontology 5
    Phenotypes 12
  • Earliest
    J:34347 Lalouette A, et al., Male sterility caused by sperm cell-specific structural abnormalities in ebouriffe, a new mutation of the house mouse. Biol Reprod. 1996 Aug;55(2):355-63
  • Latest
    J:258611 Kang C, et al., SWELL1 is a glucose sensor regulating beta-cell excitability and systemic glycaemia. Nat Commun. 2018 Jan 25;9(1):367

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory