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 immun... See more...

Aliases for LRBA Gene

Aliases for LRBA Gene

  • LPS Responsive Beige-Like Anchor Protein 2 3 5
  • LPS-Responsive Vesicle Trafficking, Beach And Anchor Containing 2 3
  • Lipopolysaccharide-Responsive And Beige-Like Anchor Protein 3 4
  • 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 Immunodeficiency 8. Gene Ontology (GO) annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is NBEA.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for LRBA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRBA Gene

Genomics for LRBA Gene

GeneHancer (GH) Regulatory Elements for LRBA Gene

Promoters and enhancers for LRBA Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J151012 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505.5 +1.0 1026 5.4 ZBTB40 ZNF217 EP300 NRF1 POLR2G SP1 GTF2E2 PHF8 ZFX ZNF10 LRBA lnc-LRBA-4 lnc-RPS3A-3 ENSG00000270681 RNA5SP168
GH04J150577 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500 +432.3 432324 11.1 HNRNPK ZIC2 ZBTB10 ZBTB26 SAP30 KLF7 MXI1 ZNF341 OSR2 WT1 MAB21L2 LRBA RPS3A ENSG00000270681 FAM160A1 ENSG00000249690 piR-61945-394
GH04J151048 Promoter/Enhancer 0.9 EPDnew ENCODE 500.3 -33.8 -33822 1.6 TEAD4 POLR2A HDAC2 YY1 PHF8 ZBTB33 TAF1 EP300 TBP SP1 LRBA ENSG00000270681 piR-38580-230 RF00017-4428
GH04J151322 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.6 -309.1 -309109 4.4 FOXK2 NRF1 MYC POLR2G USF1 NCOR1 JUND ZFX POLR2A KDM6A SH3D19 lnc-PRSS48-3 FAM160A1 RPS3A LRBA ENSG00000251455
GH04J150518 Enhancer 0.7 Ensembl ENCODE 14.1 +496.9 496926 1.6 JUND FOS FOSL2 FOSL1 EP300 ATF4 DPF2 JUN SMARCE1 ATF3 LRBA ENSG00000249690 MAB21L2 ENSG00000270681 RPS3A lnc-MAB21L2-2 piR-48820-076
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRBA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRBA

Top Transcription factor binding sites by QIAGEN in the LRBA gene promoter:
  • Arnt
  • ATF6
  • CREB
  • deltaCREB
  • HEN1
  • Max1
  • Nkx2-2
  • Nkx2-5
  • POU2F1
  • POU2F1a

Genomic Locations for LRBA Gene

Genomic Locations for LRBA Gene
751,293 bases
Minus strand
751,286 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; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LRBA Gene

    Alternative splice isoforms for LRBA Gene


neXtProt entry for LRBA Gene

Post-translational modifications for LRBA Gene

  • Ubiquitination at Lys1473 and Lys1889
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LRBA Gene

Domains & Families for LRBA Gene

Gene Families for LRBA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for LRBA Gene

GenScript: Design optimal peptide antigens:
  • CDC4-like protein (LRBA_HUMAN)
  • LRBA protein (Q6P1X2_HUMAN)
  • LRBA protein (Q969R7_HUMAN)
genes like me logo Genes that share domains with LRBA: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LRBA Gene

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).

Phenotypes From GWAS Catalog for LRBA Gene

Gene Ontology (GO) - Molecular Function for LRBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with LRBA: view
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

miRNA for LRBA Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRBA gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
cytosol 4
lysosome 4
golgi apparatus 4
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with LRBA: view

Pathways & Interactions for LRBA Gene

PathCards logo

SuperPathways for LRBA Gene

No Data Available

SIGNOR curated interactions for LRBA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for LRBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with LRBA: view

No data available for Pathways by source for LRBA Gene

Drugs & Compounds for LRBA Gene

No Compound Related Data Available

Transcripts for LRBA Gene

mRNA/cDNA for LRBA Gene

16 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for LRBA Gene

GeneLoc Exon Structure for

Expression for LRBA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for LRBA Gene

Protein tissue co-expression partners for LRBA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRBA

SOURCE GeneReport for Unigene cluster for LRBA Gene:


mRNA Expression by UniProt/SwissProt for LRBA Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for LRBA Gene

  • Liver(4.4)
  • Blood(2.7)
  • Kidney(2.2)
  • Gall bladder(2)
  • Intestine(2)
  • Lung(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRBA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • meninges
  • middle ear
  • neck
  • pituitary gland
  • sinus
  • skull
  • thyroid
  • bronchus
  • heart
  • lung
  • adrenal gland
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
  • anus
  • rectum
  • uterus
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LRBA: view

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
(Pan troglodytes)
Mammalia LRBA 31 30
  • 99.6 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
-- 31
  • 93 (a)
-- 31
  • 70 (a)
(Canis familiaris)
Mammalia LRBA 31 30
  • 91.96 (n)
(Bos Taurus)
Mammalia LRBA 31 30
  • 89.49 (n)
(Mus musculus)
Mammalia Lrba 17 31 30
  • 87.93 (n)
(Rattus norvegicus)
Mammalia Lrba 30
  • 87.33 (n)
(Monodelphis domestica)
Mammalia LRBA 31
  • 84 (a)
(Gallus gallus)
Aves LRBA 31 30
  • 77.66 (n)
(Anolis carolinensis)
Reptilia LRBA 31
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lrba 30
  • 73.32 (n)
(Danio rerio)
Actinopterygii lrba 31 30
  • 67.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta rg 31 32
  • 39 (a)
CG1332 32
  • 37 (a)
(Caenorhabditis elegans)
Secernentea sel-2 31
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 31
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9799 31
  • 41 (a)
Species where no ortholog for LRBA was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for LRBA: view image

Paralogs for LRBA Gene

Paralogs for LRBA Gene

(7) SIMAP similar genes for LRBA Gene using alignment to 8 proteins:

  • F5H1X8_HUMAN
  • H0Y9N9_HUMAN
  • H0YA17_HUMAN
  • Q6P1X2_HUMAN
  • Q969R7_HUMAN
genes like me logo Genes that share paralogs with LRBA: view

Variants for LRBA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRBA Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
636333 Uncertain Significance: not provided 150,471,619(-) G/C INTRON_VARIANT
636373 Uncertain Significance: Common variable immunodeficiency 8, with autoimmunity; not provided 150,900,202(-) A/G MISSENSE_VARIANT
636488 Uncertain Significance: not provided 150,683,686(-) C/T MISSENSE_VARIANT
636557 Uncertain Significance: not provided 150,310,283(-) T/C MISSENSE_VARIANT
636571 Likely Pathogenic: not provided 150,872,661(-) A/C SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for LRBA Gene

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

Variant ID Type Subtype PubMed ID
dgv1034e214 CNV loss 21293372
dgv5436n100 CNV gain 25217958
dgv5437n100 CNV loss 25217958
dgv9312n54 CNV loss 21841781
dgv9313n54 CNV loss 21841781
dgv9314n54 CNV loss 21841781
dgv982e199 CNV deletion 23128226
esv1140586 CNV insertion 17803354
esv1614257 CNV deletion 17803354
esv1685814 CNV insertion 17803354
esv22008 CNV loss 19812545
esv2421568 CNV deletion 20811451
esv2512633 CNV insertion 19546169
esv2658599 CNV deletion 23128226
esv2663167 CNV deletion 23128226
esv2667539 CNV deletion 23128226
esv2669383 CNV deletion 23128226
esv2728526 CNV deletion 23290073
esv2728527 CNV deletion 23290073
esv2760836 CNV loss 21179565
esv2763837 CNV gain+loss 21179565
esv3308151 CNV mobile element insertion 20981092
esv3399148 CNV insertion 20981092
esv3407753 CNV insertion 20981092
esv3564788 CNV deletion 23714750
esv3569748 CNV loss 25503493
esv3569749 CNV loss 25503493
esv3602657 CNV loss 21293372
esv3602658 CNV loss 21293372
esv3602659 CNV loss 21293372
esv3602661 CNV loss 21293372
esv3602662 CNV loss 21293372
esv3602663 CNV loss 21293372
esv3602666 CNV gain 21293372
esv3602667 CNV loss 21293372
esv3602668 CNV loss 21293372
esv3602669 CNV gain 21293372
esv7582 CNV gain 19470904
nsv1017201 CNV loss 25217958
nsv1024820 CNV gain 25217958
nsv1028814 CNV gain 25217958
nsv1029464 CNV gain 25217958
nsv1032070 CNV loss 25217958
nsv1032391 CNV gain 25217958
nsv10586 CNV loss 18304495
nsv1074225 CNV deletion 25765185
nsv1074226 CNV deletion 25765185
nsv1119016 CNV deletion 24896259
nsv1139317 CNV deletion 24896259
nsv1142407 CNV tandem duplication 24896259
nsv1143294 CNV deletion 24896259
nsv1152560 CNV deletion 26484159
nsv261 CNV insertion 15895083
nsv290414 CNV deletion 16902084
nsv437442 CNV loss 16327808
nsv437443 CNV loss 16327808
nsv437942 CNV loss 16468122
nsv442923 CNV loss 18776908
nsv4546 CNV insertion 18451855
nsv4547 CNV deletion 18451855
nsv4548 CNV deletion 18451855
nsv461678 CNV loss 19166990
nsv475322 CNV novel sequence insertion 20440878
nsv499071 CNV loss 21111241
nsv509018 CNV insertion 20534489
nsv514258 CNV loss 21397061
nsv517186 CNV loss 19592680
nsv517536 CNV loss 19592680
nsv526976 CNV gain 19592680
nsv527113 CNV gain 19592680
nsv527494 CNV loss 19592680
nsv595688 CNV loss 21841781
nsv595689 CNV loss 21841781
nsv595690 CNV gain 21841781
nsv595691 CNV loss 21841781
nsv595693 CNV loss 21841781
nsv818284 CNV loss 17921354
nsv822773 CNV loss 20364138
nsv830112 CNV gain 17160897
nsv830113 CNV loss 17160897
nsv949831 CNV duplication 24416366
nsv949832 CNV deletion 24416366

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)

Additional Variant Information for LRBA Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for LRBA Gene

MalaCards: The human disease database

(17) MalaCards diseases for LRBA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for LRBA

Genetic Association Database
Human Genome Epidemiology 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 AE … Mager DL (Genomics 1992) 2 3 4 23 54
  2. Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins. (PMID: 11254716) Wang JW … Kerr WG (Journal of immunology (Baltimore, Md. : 1950) 2001) 2 3 4 54
  3. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. (PMID: 22608502) Lopez-Herrera G … Grimbacher B (American journal of human genetics 2012) 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54

Products for LRBA Gene

Sources for LRBA Gene