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Lrrc8a Gene Detail
Summary
  • Symbol
    Lrrc8a
  • Name
    leucine rich repeat containing 8A VRAC subunit A
  • Synonyms
    ebo, Lrrc8, mKIAA1437, SWELL1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2652847
    NCBI Gene: 241296
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:30127781-30153802 bp, + strand
    From NCBI annotation of GRCm39
  • 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 Chr2:30127727-30153802 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LRRC8A, leucine rich repeat containing 8 VRAC subunit A
  • Synonyms
    AGM5, HsLRRC8A, LRRC8, SWELL1
  • Links
    NCBI Gene ID: 56262
    neXtProt AC: NX_Q8IWT6
    UniProt: Q8IWT6

  • Chr Location
    9q34.11; chr9:128882133-128918039 (+)  GRCh38

Human Diseases
more
  • Diseases
    2 with human LRRC8A associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    63 phenotypes from 3 alleles in 4 genetic backgrounds
    3 images
    34 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 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 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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Comparison Matrix
  • 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 65
      Developmental Gene Expression 2
      Gene Ontology 5
      Phenotypes 34
    • 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:342392 Wang Y, et al., Cell volume controlled by LRRC8A-formed volume-regulated anion channels fine-tunes T cell activation and function. Nat Commun. 2023 Nov 4;14(1):7075

    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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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory