LRBA (LPS responsive beige-like anchor protein)

2014-08-01  

Identity

HGNC
LOCATION
4q31.3
LOCUSID
ALIAS
BGL,CDC4L,CVID8,LAB300,LBA
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
360632612023Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.0
360632612023Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.0
331918382022Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients.5
354914302022Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.4
360747052022Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients.1
331918382022Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients.5
354914302022Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.4
360747052022Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients.1
337107942021Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency.4
337171142021Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency.4
337882572021Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.25
338450482021Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.2
337107942021Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency.4
337171142021Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency.4
337882572021Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.25

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/cancer-prone-explorer/img/case-report-explorer/