LRBA Chromosome 4
LPS responsive beige-like anchor protein
Upload your DNA to see your personal genotypes for variants in LRBA.
What This Gene Does
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]
Gene Info
Gene Group
"WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
4q31.3
Ensembl
ENSG00000198589
Associated Conditions (13)
Combined immunodeficiency due to LRBA deficiency
LRBA-related disorder
Inborn genetic diseases
Acute myeloid leukemia
Hirschsprung disease
susceptibility to
1
Ovarian serous cystadenocarcinoma
Cholangiocarcinoma
Cervical cancer
See cases
Inherited Immunodeficiency Diseases
Severe combined immunodeficiency due to CORO1A deficiency
Key Variants
RS112952572
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS114610541
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder, Inborn genetic diseases
Health Risk
RS116355217
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS116526975
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS138220755
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Acute myeloid leukemia, Inborn genetic diseases
Health Risk
RS138428438
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS138956153
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS139093792
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS140629626
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS140666848
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 1
Health Risk
RS140860135
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases, LRBA-related disorder
Health Risk
RS142598024
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases, Combined immunodeficiency due to LRBA deficiency
Health Risk
All Variants (170)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144451686 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1553998602 | Health Risk | Pathogenic | — |
| RS1554020278 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1560914625 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1560938296 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1578971328 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Combined immunodeficiency due to LRBA deficiency, Inherited Immunodeficiency Diseases |
| RS1578999313 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1579044835 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1580875488 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1581303476 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1581401865 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1745202896 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1750701604 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1750723817 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1750760771 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1752898179 | Health Risk | Pathogenic | — |
| RS1772348297 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS1783240643 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS199469662 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS199469663 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS199469664 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS199750191 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2126438478 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2126810458 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2126810852 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2126848251 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2126905382 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2126988253 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2127154743 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2127154885 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2149489346 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2149508258 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2149508349 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2151995373 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2151995564 | Health Risk | Pathogenic | — |
| RS2545728179 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2545740842 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2545893385 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2545994358 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546421991 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546423436 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546499925 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546501369 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546545055 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546545066 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546545150 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546547057 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546559478 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2547502759 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2547502929 | Health Risk | Pathogenic | Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |