1. Gene
  2. LRBA - LPS responsive beige-like anchor protein Gene

LRBA - LPS responsive beige-like anchor protein Gene

Homo sapiens

Also known as BGL; LBA; CDC4L; CVID8; LAB300

Gene ID: 987 | Gene type: protein coding

About LRBA

Cytogenetic location: 4q31.3 Genomic coordinates (GRCh38): 4:150,264,435-151,015,727 (from NCBI)

This gene has 23 transcripts (splice variants), 228 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 10.0), thyroid (RPKM 9.8) and 25 other tissues.

Summary

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]

LRBA Products(4)

mRNA Protein Name
NM_001199282.2 NP_001186211.2 lipopolysaccharide-responsive and beige-like anchor protein isoform 1
NM_001364905.1 NP_001351834.1 lipopolysaccharide-responsive and beige-like anchor protein isoform 3
NM_001367550.1 NP_001354479.1 lipopolysaccharide-responsive and beige-like anchor protein isoform 4
NM_006726.4 NP_006717.2 lipopolysaccharide-responsive and beige-like anchor protein isoform 2

LRBA Protein Structure

Laminin_G_3

Laminin_G_3: Concanavalin A-like lectin/glucanases superfamily (209 - 376)

DUF1088

DUF1088: Domain of Unknown Function (DUF1088) (1880 - 2059)

PH_BEACH

PH_BEACH: PH domain associated with Beige/BEACH (2078 - 2180)

Beach

Beach: Beige/BEACH domain (2212 - 2489)

WD40

WD40: WD domain, G-beta repeat (2630 - 2669)

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  • 2863 a.a.
Protein Preferred Names Protein Names

lipopolysaccharide-responsive and beige-like anchor protein

CDC4-like protein

Related Diseases

Diseases Alias
Immunodeficiency, Common Variable, 8, With Autoimmunity

Combined Immunodeficiency Due To Lrba Deficiency

CVID8

Common Variable Immunodeficiency 8

Common Variable Immunodeficiency-8 With Autoimmunity

Cid Due To Lrba Deficiency

Immunodeficiency, Variable, Common, Type 8, With Autoimmunity

Immunodeficiency 8

Severe Combined Immunodeficiency Due To Coro1a Deficiency

IMD8

Scid Due To Coro1a Deficiency

Scid Due To Coronin-1a Deficiency

Severe Combined Immunodeficiency Due To Coronin-1a Deficiency

Immunodeficiency, Type 8

Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome

Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome

MCSKS

Mcops14

Microphthalmia And/Or Coloboma With Or Without Rhizomelic Skeletal Dysplasia

Microphthalmia, Syndromic 14

Syndromic Microphthalmia 14

Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia

Microphthalmia, Syndromic, 14

Microphthalmia And/Or Coloboma, With Or Without Rhizomelic Skeletal Dysplasia

Microphthalmia, Syndromic, Type 14

Thrombocytopenic Purpura, Autoimmune

Idiopathic Thrombocytopenic Purpura

Autoimmune Thrombocytopenic Purpura

Immune Thrombocytopenic Purpura

Itp

Idiopathic Purpura

AITP

Ideopath Thrombocytopenic Pur

Primary Thrombocytopenic Purpura

Werlhof'S Disease

Thrombocytopenic Purpura Autoimmune

Purpura Thrombocytopenic Idiopathic

Purpura, Thrombocytopenic, Idiopathic

Autoimmune Thrombocytopenia

Thrombocytopenia Due To Platelet Alloimmunization

Idiopathic Thrombocytopenia

Idiopathic Thrombocytopenia Purpura

Frank'S Essential Thrombocytopenia

Itp - [Idiopathic Thrombocytopenia Purpura]

Werlhof Disease

Primary Autoimmune Thrombocytopenic Purpura

Haemorrhagic Purpura

Essential Thrombocytopenia

Purpura Haemorrhagica

Common Variable Immunodeficiency

Cvid

Common Variable Agammaglobulinemia

Common Variable Immune Deficiency

Acquired Hypogammaglobulinemia

Hypogamma-Globulinemia, Acquired

Idiopathic Immunoglobulin Deficiency

Primary Antibody Deficiency

Primary Hypogammaglobulinemia

Acquired Agammaglobulinemia

Sporadic Hypogammaglobulinemia

Common Variable Hypogamma-Globulinemia

Immunoglobulin Deficiency, Late-Onset

Common Variable Hypogammaglobulinemia

Immunodeficiency, Common Variable

Evans' Syndrome

Evans Syndrome

Autoimmune Hemolytic Anemia And Autoimmune Thrombocytopenia

Evan Syndrome

Immune Pancytopenia

Evan'S Syndrome

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Autoimmune Lymphoproliferative Syndrome, Type Iii

ALPS3

Autoimmune Lymphoproliferative Syndrome Type 3

Immunodeficiency, Common Variable, 9, Formerly

Cvid9, Formerly

Autoimmune Lymphoproliferative Syndrome Type Iii

Autoimmune Lymphoproliferative Syndrome 3

Cvid9

Immunodeficiency, Common Variable, 9

Type 3 Autoimmune Lymphoproliferative Syndrome

Immunodeficiency, Variable, Common, Type 9

Immunodeficiency 14

Activated Pi3k-Delta Syndrome

Apds

Pasli Disease

Imd14

Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation

P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked

IPEX

X-Linked Autoimmunity-Allergic Dysregulation Syndrome

Xlaad

Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked

Ipex Syndrome

Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome

Iddm-Secretory Diarrhea Syndrome

Dmsd

Autoimmunity-Immunodeficiency Syndrome, X-Linked

Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy

Xpid

Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea

Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome

Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked

Autoimmune Enteropathy Type 1

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly

Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome

Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked

Autoimmunity-Immunodeficiency Syndrome X-Linked

Iddm Secretory Diarrhea Syndrome

Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome

X-Linked Autoimmunity-Immunodeficiency Syndrome

Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome

X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea

Neutropenia, Severe Congenital, X-Linked

X-Linked Severe Congenital Neutropenia

XLN

SCNX

Severe Congenital Neutropenia X-Linked

Neutropenia, Congenital, Severe, X-Linked

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Immunodeficiency 60

Bach2-Related Immunodeficiency And Autoimmunity

Brida

Imd60

Immunodeficiency 41 With Lymphoproliferation And Autoimmunity

Cd25 Deficiency

Immunodeficiency Due To Cd25 Deficiency

IMD41

Interleukin 2 Receptor, Alpha, Deficiency Of

Il2ra Deficiency

Immunodeficiency 41

Interleukin-2 Receptor Alpha Chain Deficiency

Interleukin 2 Receptor Alpha Deficiency

Interleukin-2 Receptor, Alpha Chain, Deficiency Of

Immunodeficiency, Type 41 With Lymphoproliferation And Autoimmunity

Esophageal Tuberculosis

Tuberculosis Of Esophagus

Microcephaly And Chorioretinopathy 2
Primary Thrombocytopenia
Lymphoid Interstitial Pneumonia

Lymphocytic Interstitial Pneumonia

Lip Disease

Lip Diseases

LIP

Disease Of Lips

Lymphoproliferative Syndrome

Lymphoproliferative Disorder

Lymphoproliferative Disorders

Lymphoproliferative Disorders, Susceptibility To

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

B Cell Deficiency

Immunoglobulin Heavy Chain Deficiency

B Cell Deficiencies

Immunoglobulin Heavy Chain Deletion

Humoral Immune Defect

Immunodeficiency 58

IMD58

Severe Combined Immunodeficiency Due To Carmil2 Deficiency

Combined Immunodeficiency Due To Carmil2 Deficiency

Combined Immunodeficiency Due To Rltpr Deficiency

Anemia, Autoimmune Hemolytic

Autoimmune Hemolytic Anemia

Idiopathic Autoimmune Hemolytic Anemia

Immuno-Hemolytic Anemia

Anemia, Hemolytic, Autoimmune

Autoimmune Haemolytic Anaemia

Autoimmune Hemolytic Anaemia

Acquired Autoimmune Hemolytic Anemia

Anemia Hemolytic Autoimmune

Familial Auto-Immune Hemolytic Anemia

Aha

Aiha

Ras-Associated Autoimmune Leukoproliferative Disorder

RALD

Autoimmune Lymphoproliferative Syndrome Type 4

Alps4

Autoimmune Lymphoproliferative Syndrome, Type Iv

Ras-Associated Autoimmune Leukoproliferative Disease

Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic

Alps Type 4

Alps Type Iv

Autoimmune Lymphoproliferative Syndrome Type Iv

Autoimmune Lymphoproliferative Syndrome 4

Aneurysm, Intracranial Berry, 12

ANIB12

Intracranial Berry Aneurysm 12

Combined Oxidative Phosphorylation Deficiency 5

COXPD5

Hypotonia With Lactic Acidemia And Hyperammonemia

Combined Oxidative Phosphorylation Defect Type 5

Combined Oxidative Phosphorylation Deficiency, Type 5

Autoimmune Disease Of Blood
Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Transient Hypogammaglobulinemia
Transient Hypogammaglobulinemia Of Infancy

Immunoglobulin Maturational Delay

Thi - [Transient Hypogammaglobulinaemia Of Infancy]

Lymphoproliferative Syndrome, X-Linked, 2

XLP2

Xiap Deficiency

X-Linked Lymphoproliferative Syndrome 2

X-Linked Lymphoproliferative Disease Due To Xiap Deficiency

Xiap-Related Lymphoproliferative Disease, X-Linked

X-Linked Lymphoproliferative Syndrome Type 2

Xiap Deficiency Syndrome

Autoimmune Polyendocrine Syndrome

Autoimmune Polyendocrinopathy

Autoimmune Polyglandular Failure

Autoimmune Polyglandular Syndrome

Polyendocrinopathies, Autoimmune

Lloyd'S Syndrome

Aps

Polyendocrinopathies Autoimmune

Polyendocrine Autoimmunity Syndrome

Lloyd Syndrome

Polyglandular Autoimmune Deficiency

Progressive Pluriglandular Insufficiency

Pluriglandular Autoimmune Atrophy

Pluriglandular Autoimmune Syndrome

Thyroid-Adrenocortical Insufficiency Syndrome

Selective Immunoglobulin Deficiency Disease
Agammaglobulinemia, X-Linked

X-Linked Agammaglobulinemia

XLA

Bruton Type Agammaglobulinemia

Bruton'S Agammaglobulinemia

Bruton-Type Agammaglobulinemia

Agmx1

Imd1

Agammaglobulinemia, X-Linked 1

Btk-Deficiency

Agammaglobulinemia

Hypogammaglobulinemia

Agammaglobulinemia, X-Linked, Type 1

Immunodeficiency 1

Bruton Agammaglobulinemia Tyrosine Kinase Deficiency

Bruton Disease

Bruton'S Agammaglobulinaemia

Bruton'S Sex-Linked Agammaglobulinemia

Bruton'S Type Agammaglobulinemia

Btk Deficiency

Agammaglobulinemia, Btk

Agammaglobulinemia, Bruton Tyrosine Kinase

Congenital Agammaglobulinemia

Immunodeficiency Type 1

X-Linked Agammaglobulinemia Type 1

Immunoglobulin Alpha Deficiency

Iga Deficiency

Gamma-A-Globulin Deficiency

Immunoglobulin A Deficiency

Hypersensitivity Reaction Type Iv Disease

Immunoproliferative Disorders

Immunoproliferative Disease

Dysgammaglobulinemia
Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated

Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

Bare Lymphocyte Syndrome, Type Ii

Mhc Class Ii Deficiency

Bare Lymphocyte Syndrome

Major Histocompatibility Complex Class Ii Deficiency

Bare Lymphocyte Syndrome 2

Bare Lymphocyte Syndrome Type 2

Severe Combined Immunodeficiency, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

Bare Lymphocyte Syndrome Type Ii

Scid, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

Scid Due To Absent Class Ii Hla Antigens

Hla Class 1 Deficiency

Scid, Hla Class 2-Negative

Bls Type Ii

Bare Lymphocyte Syndrome Type 2, Complementation Group A

Bare Lymphocyte Syndrome Type 2, Complementation Group E

Severe Combined Immunodeficiency

Bls, Type Ii

Bls

Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

Blsii

Bls Type 1

Bls 2

Scid Due To Absence Of Class Ii Hla Antigens

Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

Immunodeficiency By Defective Expression Of Mhc Class Ii

BLS2

Bare Lymphocyte Syndrome Type Ii Complementation Group A

Bare Lymphocyte Syndrome Type Ii Complementation Group B

Bare Lymphocyte Syndrome Type Ii Complementation Group C

Bare Lymphocyte Syndrome Type Ii Complementation Group D

Bare Lymphocyte Syndrome Type Ii Complementation Group E

Bls Ii

Hereditary Mhc Class Ii Deficiency

Hla Class Ii Deficient Combined Immunodeficiency

Mhc-Ii Deficiency

Scid Hla Class Ii-Negative

Severe Combined Immunodeficiency Hla Class Ii-Negative

Bl-2

Immunodeficiency By Defective Expression Of Hla Class 2

Hla Class 2-Negative Severe Combined Immunodeficiency

Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous

Cmc

Candidiasis Chronic Mucocutaneous

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta LRBA VGNC VGNC:97786
Mus musculus LRBA MGD MGI:1933162
Rattus norvegicus LRBA RGD RGD:1311428
Bos taurus LRBA VGNC VGNC:30972
Felis catus LRBA VGNC VGNC:107341
Canis familiaris LRBA VGNC VGNC:42757