LRBA (LPS responsive beige-like anchor protein)

2014-08-01  

Identity

HGNC
LRBA
LOCATION
4q31.3
LOCUSID
987
ALIAS
BGL,CDC4L,CVID8,LAB300,LBA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 987
MIM: 606453
HGNC: 1742
Ensembl: ENSG00000198589

Variants:

dbSNP: 987
ClinVar: 987
TCGA: ENSG00000198589
COSMIC: LRBA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198589ENST00000357115P50851
ENSG00000198589ENST00000502839H0Y9N9
ENSG00000198589ENST00000507224E9PEM5
ENSG00000198589ENST00000508606H0YA17
ENSG00000198589ENST00000509835H0YAC6
ENSG00000198589ENST00000510413P50851
ENSG00000198589ENST00000648823A0A3B3IU76
ENSG00000198589ENST00000648878A0A3B3IS13
ENSG00000198589ENST00000649874A0A3B3ISK3
ENSG00000198589ENST00000651035A0A494C0R9
ENSG00000198589ENST00000651695A0A494BZW2
ENSG00000198589ENST00000651943A0A494C1L5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
226085022012Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.120
262069372015AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.116
227216502012LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
254681952015Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.57
267077842016Spectrum of Phenotypes Associated with Mutations in LRBA.45
259313862015Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.26
254794582015Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.23
261221752015Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.23
281597332017Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.21

Citation

Dessen P

LRBA (LPS responsive beige-like anchor protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54428/lrba