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Lrrc8a Gene Detail
Summary
  • Symbol
    Lrrc8a
  • Name
    leucine rich repeat containing 8A
  • Synonyms
    Lrrc8, mKIAA1437
  • Feature Type
    protein coding gene
  • IDs
    MGI:2652847
    NCBI Gene: 241296
  • Gene Overview
    MyGene.info: LRRC8A
Location & Maps
more
  • Sequence Map
    Chr2:30237715-30263790 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26076 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    LRRC8A, leucine-rich repeat containing 8 family member A
  • Vertebrate Orthologs
    12
  • Human Ortholog
    LRRC8A, leucine-rich repeat containing 8 family member A
    Orthology source: HomoloGene
  • Synonyms
    AGM5, LRRC8, SWELL1
  • Links
    NCBI Gene ID: 56262
    neXtProt AC: NX_Q8IWT6

  • Chr Location
    9q34.11; chr9:128882112-128918042 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human LRRC8A associations

Human Disease Mouse Models
       Agammaglobulinemia 5, Autosomal Dominant; AGM5   OMIM: 613506
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Gene trapped
    1
  • Targeted
    7
  • Incidental Mutations
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016752 VEGA Gene Model | MGI Sequence Detail 26076 C57BL/6J ±  kb
transcript OTTMUST00000040642 VEGA | MGI Sequence Detail 4194 Not Applicable  
polypeptide OTTMUSP00000018165 VEGA | MGI Sequence Detail 810 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    48 from dbSNP Build 142
Protein
Information
less
  • Protein Ontology
    PR:000030752 leucine-rich repeat-containing protein 8A
Molecular
Reagents
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  • All nucleic 4
    cDNA 4

    Microarray probesets 1
References
more
  • Summaries
    All 27
    Gene Ontology 2
    Phenotypes 10
  • Earliest
    J:86686 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Aug 31;10(4):167-80
  • Latest
    J:211308 Kumar L, et al., Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function. J Exp Med. 2014 May 5;211(5):929-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory