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Lrba Gene Detail
Summary
  • Symbol
    Lrba
  • Name
    LPS-responsive beige-like anchor
  • Synonyms
    D3Ertd775e, Lba
  • Feature Type
    protein coding gene
  • IDs
    MGI:1933162
    NCBI Gene: 80877
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:86131987-86689999 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 37.83 cM, cytoband F1
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    10916 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1933162
 protein coding gene Chr3:86130763-86690001 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027354
 protein coding gene Chr3:86261729-86853417 (+)
A/J MGP_AJ_G0027318
 protein coding gene Chr3:83349262-83891768 (+)
AKR/J MGP_AKRJ_G0027284
 protein coding gene Chr3:85346325-85914082 (+)
BALB/cJ MGP_BALBcJ_G0027327
 protein coding gene Chr3:83424282-83986370 (+)
C3H/HeJ MGP_C3HHeJ_G0027071
 protein coding gene Chr3:85637780-86203378 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027773
 protein coding gene Chr3:89464814-90064553 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025126
 protein coding gene Chr3:78984943-79575672 (+)
CAST/EiJ MGP_CASTEiJ_G0026518
 protein coding gene Chr3:85846463-86427589 (+)
CBA/J MGP_CBAJ_G0027046
 protein coding gene Chr3:92441448-93073570 (+)
DBA/2J MGP_DBA2J_G0027182
 protein coding gene Chr3:82841787-83396582 (+)
FVB/NJ MGP_FVBNJ_G0027150
 protein coding gene Chr3:81145626-81705906 (+)
LP/J MGP_LPJ_G0027290
 protein coding gene Chr3:87193380-87787341 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027169
 protein coding gene Chr3:98708535-99384047 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027831
 protein coding gene Chr3:85126203-85696459 (+)
PWK/PhJ MGP_PWKPhJ_G0026252
 protein coding gene Chr3:82647072-83199139 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026068
 protein coding gene Chr3:84299178-84872504 (+)
WSB/EiJ MGP_WSBEiJ_G0026596
 protein coding gene Chr3:85496102-86070019 (+)



Homology
more
  • Human Ortholog
    LRBA, LPS responsive beige-like anchor protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LRBA, LPS responsive beige-like anchor protein
  • Synonyms
    BGL, CDC4L, CVID8, LAB300, LBA, uc.147
  • Links
    NCBI Gene ID: 987
    neXtProt AC: NX_P50851
    UniProt: P50851

  • Chr Location
    4q31.3; chr4:150264435-151015727 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human LRBA associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 7 alleles in 7 genetic backgrounds
    23 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 a knock-out allele exhibit increased numbers of myeloid-derived suppressor cells and regulatory T cells, abnormal NK cell physiology, impaired rejection of allogeneic, xenogeneic and missing self bone-marrow grafts, and resistance to acute graft vs host disease.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    6
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
    742
  • Tissues
    14
  • cDNA Data
    61
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028080 Ensembl Gene Model | MGI Sequence Detail 558013 C57BL/6J ±  kb
    transcript ENSMUST00000107635 Ensembl | MGI Sequence Detail 9888 Not Applicable  
    polypeptide ENSMUSP00000103261 Ensembl | MGI Sequence Detail 2854 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 63
      cDNA 61
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1289290, MGI:2140073
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 6
      Phenotypes 23
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:348058 Roussa E, et al., LRBA, a BEACH protein mutated in human immune deficiency, is widely expressed in epithelia, exocrine and endocrine glands, and neurons. Sci Rep. 2024 May 9;14(1):10678
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory