LRBA - LPS responsive beige-like anchor protein Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 987

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26206937	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitophagy	IMP IMP: Inferred from mutant phenotype	33773106	GOA
involved in protein localization to phagophore assembly site	IMP IMP: Inferred from mutant phenotype	33773106	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRBA Protein Structure

Laminin_G_3

DUF1088

PH_BEACH

Beach

WD40

0
500
1000
1500
2000
2500
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07777	LRBA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22224	Lrba Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28746	Lrba Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	LRBA	NCBI