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Aliases for LRBA Gene

Aliases for LRBA Gene

  • LPS Responsive Beige-Like Anchor Protein 2 3
  • LPS-Responsive Vesicle Trafficking, Beach And Anchor Containing 2 3 5
  • CDC4-Like Protein 3 4
  • CDC4L 3 4
  • BGL 3 4
  • LBA 3 4
  • Vesicle Trafficking, Beach And Anchor Containing 3
  • Beige-Like Protein 4
  • LAB300 3
  • CVID8 3

External Ids for LRBA Gene

Previous HGNC Symbols for LRBA Gene

  • CDC4L

Previous GeneCards Identifiers for LRBA Gene

  • GC04M151993
  • GC04M151573
  • GC04M151763
  • GC04M151543
  • GC04M151405
  • GC04M151185
  • GC04M146911

Summaries for LRBA Gene

Entrez Gene Summary for LRBA Gene

  • The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for LRBA Gene

LRBA (LPS Responsive Beige-Like Anchor Protein) is a Protein Coding gene. Diseases associated with LRBA include Immunodeficiency, Common Variable, 8, With Autoimmunity and Lrba-Related Common Variable Immune Deficiency With Autoimmunity. GO annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is WDFY3.

UniProtKB/Swiss-Prot for LRBA Gene

  • May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.

Gene Wiki entry for LRBA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRBA Gene

Genomics for LRBA Gene

Regulatory Elements for LRBA Gene

Enhancers for LRBA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LRBA on UCSC Golden Path with GeneCards custom track

Promoters for LRBA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LRBA on UCSC Golden Path with GeneCards custom track

Genomic Location for LRBA Gene

150,264,531 bp from pter
151,015,727 bp from pter
751,197 bases
Minus strand

Genomic View for LRBA Gene

Genes around LRBA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRBA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRBA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRBA Gene

Proteins for LRBA Gene

  • Protein details for LRBA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Lipopolysaccharide-responsive and beige-like anchor protein
    Protein Accession:
    Secondary Accessions:
    • Q4W5J4
    • Q4W5L6
    • Q8NFQ0
    • Q9H2U3
    • Q9H2U4

    Protein attributes for LRBA Gene

    2863 amino acids
    Molecular mass:
    319108 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAB09603.1; Type=Frameshift; Positions=2674, 2851, 2858; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LRBA Gene

    Alternative splice isoforms for LRBA Gene


neXtProt entry for LRBA Gene

Proteomics data for LRBA Gene at MOPED

Post-translational modifications for LRBA Gene

  • Ubiquitination at Lys 1473 and Lys 1889
  • Modification sites at PhosphoSitePlus

Other Protein References for LRBA Gene

No data available for DME Specific Peptides for LRBA Gene

Domains & Families for LRBA Gene

Suggested Antigen Peptide Sequences for LRBA Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 BEACH domain.
  • Contains 6 WD repeats.
  • Contains 1 BEACH domain.
  • Contains 1 BEACH-type PH domain.
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with LRBA: view

Function for LRBA Gene

Molecular function for LRBA Gene

UniProtKB/Swiss-Prot Function:
May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.
UniProtKB/Swiss-Prot Induction:
By bacterial lipopolysaccharides (LPS).
genes like me logo Genes that share phenotypes with LRBA: view

Human Phenotype Ontology for LRBA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for LRBA Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for LRBA Gene

Localization for LRBA Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRBA Gene

Cell membrane; Single-pass membrane protein. Endoplasmic reticulum. Golgi apparatus, trans-Golgi network. Lysosome.

Subcellular locations from

Jensen Localization Image for LRBA Gene COMPARTMENTS Subcellular localization image for LRBA gene
Compartment Confidence
cytosol 5
plasma membrane 5
endoplasmic reticulum 4
golgi apparatus 4
lysosome 3
vacuole 3
nucleus 2
chloroplast 1
extracellular 1

Gene Ontology (GO) - Cellular Components for LRBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LRBA: view

Pathways & Interactions for LRBA Gene

SuperPathways for LRBA Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRBA Gene


No data available for Pathways by source and SIGNOR curated interactions for LRBA Gene

Drugs & Compounds for LRBA Gene

No Compound Related Data Available

Transcripts for LRBA Gene

Unigene Clusters for LRBA Gene

LPS-responsive vesicle trafficking, beach and anchor containing:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LRBA Gene

No ASD Table

Relevant External Links for LRBA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LRBA Gene

mRNA expression in normal human tissues for LRBA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LRBA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.7), Platelet (9.2), and Salivary gland (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LRBA Gene

SOURCE GeneReport for Unigene cluster for LRBA Gene Hs.480938

mRNA Expression by UniProt/SwissProt for LRBA Gene

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with LRBA: view

Protein tissue co-expression partners for LRBA Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for LRBA Gene

Orthologs for LRBA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LRBA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LRBA 35
  • 89.49 (n)
  • 90.4 (a)
  • 87 (a)
(Canis familiaris)
Mammalia LRBA 35
  • 91.96 (n)
  • 91.75 (a)
  • 91 (a)
(Mus musculus)
Mammalia Lrba 35
  • 87.93 (n)
  • 90.8 (a)
Lrba 16
Lrba 36
  • 91 (a)
(Pan troglodytes)
Mammalia LRBA 35
  • 99.6 (n)
  • 99.62 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Lrba 35
  • 87.33 (n)
  • 89.58 (a)
(Monodelphis domestica)
Mammalia LRBA 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 93 (a)
-- 36
  • 70 (a)
-- 36
  • 93 (a)
(Gallus gallus)
Aves LRBA 35
  • 77.66 (n)
  • 81.16 (a)
  • 80 (a)
(Anolis carolinensis)
Reptilia LRBA 36
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lrba 35
  • 73.32 (n)
  • 77.91 (a)
(Danio rerio)
Actinopterygii lrba 35
  • 67.86 (n)
  • 73.48 (a)
lrba 36
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1332 37
  • 37 (a)
rg 37
  • 53 (a)
rg 36
  • 39 (a)
(Caenorhabditis elegans)
Secernentea sel-2 36
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 36
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9799 36
  • 41 (a)
Species with no ortholog for LRBA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LRBA Gene

Gene Tree for LRBA (if available)
Gene Tree for LRBA (if available)

Paralogs for LRBA Gene

Paralogs for LRBA Gene

genes like me logo Genes that share paralogs with LRBA: view

Variants for LRBA Gene

Sequence variations from dbSNP and Humsavar for LRBA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs2290846 - 150,277,928(+) GGTCC(A/G)ACACC reference, missense
VAR_035883 A breast cancer sample
VAR_035884 A breast cancer sample
VAR_035885 A breast cancer sample
rs1782360 - 150,852,441(-) GGATG(C/G)CTCAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LRBA Gene

Variant ID Type Subtype PubMed ID
nsv880256 CNV Gain 21882294
nsv509018 CNV Insertion 20534489
nsv261 CNV Insertion 15895083
nsv4546 CNV Insertion 18451855
nsv880257 CNV Gain 21882294
nsv880258 CNV Gain 21882294
esv2669383 CNV Deletion 23128226
esv2728526 CNV Deletion 23290073
nsv517536 CNV Loss 19592680
dgv5782n71 CNV Loss 21882294
nsv830112 CNV Gain 17160897
esv2512633 CNV Insertion 19546169
esv268953 CNV Insertion 20981092
esv272174 CNV Insertion 20981092
nsv527113 CNV Gain 19592680
esv1614257 CNV Deletion 17803354
esv1140586 CNV Insertion 17803354
nsv822773 CNV Loss 20364138
nsv4547 CNV Loss 18451855
nsv880261 CNV Loss 21882294
nsv830113 CNV Loss 17160897
esv2667539 CNV Deletion 23128226
nsv290414 CNV Loss 16902084
nsv526976 CNV Gain 19592680
esv272425 CNV Insertion 20981092
esv2663167 CNV Deletion 23128226
nsv880262 CNV Gain 21882294
nsv880576 CNV Loss 21882294
esv7582 CNV Gain 19470904
esv2658599 CNV Deletion 23128226
nsv881254 CNV Gain 21882294
nsv880429 CNV Loss 21882294
nsv437442 CNV Loss 16327808
nsv880862 CNV Loss 21882294
nsv527494 CNV Loss 19592680
nsv818284 CNV Loss 17921354
nsv461678 CNV Loss 19166990
nsv4548 CNV Loss 18451855
nsv517186 CNV Loss 19592680
nsv437443 CNV Loss 16327808
nsv10586 CNV Loss 18304495
dgv982e199 CNV Deletion 23128226
esv1685814 CNV Insertion 17803354
nsv499071 CNV Loss 21111241
esv22008 CNV Loss 19812545
nsv442923 CNV CNV 18776908
esv2421568 CNV Deletion 20811451
nsv437942 CNV Loss 16468122
nsv514258 CNV Loss 21397061
esv2728527 CNV Deletion 23290073

Variation tolerance for LRBA Gene

Residual Variation Intolerance Score: 8.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.95; 95.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRBA Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRBA Gene

Disorders for LRBA Gene

MalaCards: The human disease database

(8) MalaCards diseases for LRBA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 8, with autoimmunity
  • cvid8
lrba-related common variable immune deficiency with autoimmunity
  • immunodeficiency, common variable, 8, with autoimmunity, cvid8
combined immunodeficiency due to lrba deficiency
  • cid due to lrba deficiency
immunodeficiency 8
  • imd8
t cell deficiency
  • t-lymphocyte deficiency
- elite association - COSMIC cancer census association via MalaCards
Search LRBA in MalaCards View complete list of genes associated with diseases


  • Immunodeficiency, common variable, 8, with autoimmunity (CVID8) [MIM:614700]: An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. {ECO:0000269 PubMed:22608502}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LRBA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with LRBA: view

No data available for Genatlas for LRBA Gene

Publications for LRBA Gene

  1. Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4. (PMID: 1505956) Feuchter A.E. … Mager D.L. (Genomics 1992) 2 3 4 23 67
  2. Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins. (PMID: 11254716) Wang J.-W. … Kerr W.G. (J. Immunol. 2001) 2 3
  3. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  4. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. (PMID: 25468195) Charbonnier L.M. … Chatila T.A. (J. Allergy Clin. Immunol. 2015) 3
  5. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. (PMID: 25479458) Serwas N.K. … Boztug K. (Inflamm. Bowel Dis. 2015) 3

Products for LRBA Gene

Sources for LRBA Gene