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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
  • CDC4-Like Protein 3 4
  • CDC4L 3 4
  • BGL 3 4
  • LBA 3 4
  • Lipopolysaccharide-Responsive And Beige-Like Anchor Protein 3
  • 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. GO annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is NBEA.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F150509 1 Ensembl ENCODE 15.2 +505.3 505255 1.6 CEBPB REST MAFK MAB21L2 LRBA ENSG00000249690 DCLK2 LOC100419161
GH04F150518 0.2 ENCODE 14.1 +497.0 496984 0.2 JUND ATF3 JUN FOS FOSL2 EP300 LRBA ENSG00000249690 MAB21L2 LOC100419161
GH04F150540 0.5 ENCODE 11.4 +474.9 474913 1.2 JUN FEZF1 ZIC2 CHAMP1 ZNF121 ZNF316 NFE2 MAFK SMARCE1 RNF2 ENSG00000249690 MAB21L2 LRBA LOC100419161
GH04F150664 0.6 ENCODE 10.7 +350.6 350606 1.7 HLF CEBPB CEBPG NR3C1 EP300 GATA3 CEBPA STAT3 BCL6 FOS MAB21L2 ENSG00000249690 LRBA ENSG00000270681 SH3D19 RPS3A GC04P150691
GH04F150402 0.2 Ensembl 10.7 +612.6 612627 0.6 SAP130 ZIC2 RAD21 ZNF644 GLIS2 GATA4 ZNF366 ZNF600 CREM MIXL1 ENSG00000249690 MAB21L2 LRBA LOC100419161 GC04P150366
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001436253 927 4401 HDGF ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207 ZNF263 SP3

Genomic Location for LRBA Gene

Chromosome:
4
Start:
150,264,531 bp from pter
End:
151,015,727 bp from pter
Size:
751,197 bases
Orientation:
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:
    P50851-LRBA_HUMAN
    Recommended name:
    Lipopolysaccharide-responsive and beige-like anchor protein
    Protein Accession:
    P50851
    Secondary Accessions:
    • Q4W5J4
    • Q4W5L6
    • Q8NFQ0
    • Q9H2U3
    • Q9H2U4

    Protein attributes for LRBA Gene

    Size:
    2863 amino acids
    Molecular mass:
    319108 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for LRBA Gene

Post-translational modifications for LRBA Gene

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

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

P50851

UniProtKB/Swiss-Prot:

LRBA_HUMAN :
  • Contains 1 BEACH domain.
  • Contains 6 WD repeats.
Domain:
  • Contains 1 BEACH domain.
  • Contains 1 BEACH-type PH domain.
Similarity:
  • 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).

Gene Ontology (GO) - Molecular Function for LRBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
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

Animal Model Products

miRNA for LRBA Gene

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
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:0005764 lysosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,IDA 19946888
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

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 and SIGNOR curated interactions for LRBA Gene

Transcripts for LRBA Gene

Unigene Clusters for LRBA Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for LRBA Gene

GeneLoc Exon Structure for
LRBA
ECgene alternative splicing isoforms for
LRBA

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, MaxQB, and MOPED for LRBA Gene



Protein tissue co-expression partners for LRBA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LRBA Gene:

LRBA

SOURCE GeneReport for Unigene cluster for LRBA Gene:

Hs.480938

mRNA Expression by UniProt/SwissProt for LRBA Gene:

P50851-LRBA_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with LRBA: view

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
chimpanzee
(Pan troglodytes)
Mammalia LRBA 34 35
  • 99.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LRBA 34 35
  • 91.96 (n)
cow
(Bos Taurus)
Mammalia LRBA 34 35
  • 89.49 (n)
mouse
(Mus musculus)
Mammalia Lrba 34 16 35
  • 87.93 (n)
rat
(Rattus norvegicus)
Mammalia Lrba 34
  • 87.33 (n)
oppossum
(Monodelphis domestica)
Mammalia LRBA 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRBA 34 35
  • 77.66 (n)
lizard
(Anolis carolinensis)
Reptilia LRBA 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrba 34
  • 73.32 (n)
zebrafish
(Danio rerio)
Actinopterygii lrba 34 35
  • 67.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta rg 36 35
  • 53 (a)
CG1332 36
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea sel-2 35
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9799 35
  • 41 (a)
OneToMany
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

ENSEMBL:
Gene Tree for LRBA (if available)
TreeFam:
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
rs199469663 Immunodeficiency, common variable, 8, with autoimmunity (CVID8) [MIM:614700], Pathogenic 150,302,705(-) CTACA(G/T)TCTCT reference, missense
VAR_035883 A breast cancer sample
VAR_035884 A breast cancer sample
VAR_035885 A breast cancer sample
rs199469662 Pathogenic 150,828,304(-) TTCTC(C/T)GAAGC reference, stop-gained

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)

Relevant External Links for LRBA Gene

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

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

Disorders for LRBA Gene

MalaCards: The human disease database

(13) 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
  • combined immunodeficiency due to lrba deficiency
lrba-related common variable immune deficiency
  • immunodeficiency, common variable, 8, with autoimmunity
lrba-related common variable immune deficiency with autoimmunity
  • immunodeficiency, common variable, 8, with autoimmunity, cvid8
immunodeficiency 8
  • severe combined immunodeficiency due to coro1a deficiency
common variable immunodeficiency
  • acquired agammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards
Search LRBA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LRBA_HUMAN
  • 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)
LRBA
Human Genome Epidemiology (HuGE) Navigator
LRBA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRBA
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 22 64
  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 4 64
  3. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. (PMID: 22608502) Lopez-Herrera G. … Grimbacher B. (Am. J. Hum. Genet. 2012) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64

Products for LRBA Gene

Sources for LRBA Gene

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