ENSG00000198589


Homo sapiens

Features
Gene ID: ENSG00000198589
  
Biological name :LRBA
  
Synonyms : LPS responsive beige-like anchor protein / LRBA / P50851
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q31.3
Gene start: 150264531
Gene end: 151015727
  
Corresponding Affymetrix probe sets: 212692_s_at (Human Genome U133 Plus 2.0 Array)   214109_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000425852
Ensembl peptide - ENSP00000424640
Ensembl peptide - ENSP00000426669
Ensembl peptide - ENSP00000349629
Ensembl peptide - ENSP00000421552
Ensembl peptide - ENSP00000422180
NCBI entrez gene - 987     See in Manteia.
OMIM - 606453
RefSeq - XM_017008872
RefSeq - NM_001199282
RefSeq - NM_006726
RefSeq - XM_005263372
RefSeq - XM_005263373
RefSeq - XM_005263374
RefSeq - XM_005263375
RefSeq - XM_011532434
RefSeq Peptide - NP_001186211
RefSeq Peptide - NP_006717
swissprot - H0YAC6
swissprot - H0Y9N9
swissprot - E9PEM5
swissprot - P50851
swissprot - H0YA17
Ensembl - ENSG00000198589
  
Related genetic diseases (OMIM): 614700 - Immunodeficiency, common variable, 8, with autoimmunity, 614700
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lrbaENSDARG00000031108Danio rerio
 LRBAENSGALG00000010061Gallus gallus
 LrbaENSMUSG00000028080Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NBEA / Q8NFP9 / neurobeachinENSG0000017291565
NBEAL2 / Q6ZNJ1 / neurobeachin like 2ENSG0000016079619
NBEAL1 / Q6ZS30 / neurobeachin like 1ENSG0000014442618
LYST / Q99698 / lysosomal trafficking regulatorENSG0000014366917
WDFY3 / Q8IZQ1 / WD repeat and FYVE domain containing 3ENSG0000016362516
WDFY4 / Q6ZS81 / WDFY family member 4ENSG0000012881515
WDR81 / Q562E7 / WD repeat domain 81ENSG000001677169
NSMAF / Q92636 / neutral sphingomyelinase activation associated factorENSG000000356819


Protein motifs (from Interpro)
Interpro ID Name
 IPR000409  BEACH domain
 IPR001680  WD40 repeat
 IPR010508  Domain of unknown function DUF1088
 IPR011989  Armadillo-like helical
 IPR011993  PH-like domain superfamily
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016024  Armadillo-type fold
 IPR023362  PH-BEACH domain
 IPR031570  Domain of unknown function DUF4704
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036372  BEACH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008150 biological_process ND
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000403 Recurrent otitis media 
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 HP:0000509 Conjunctivitis "Inflammation of the conjunctiva." [HPO:curators]
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 HP:0000821 Hypothyroidism 
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 HP:0001369 Arthritis 
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0001873 Thrombocytopenia 
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 HP:0001875 Neutropenia 
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 HP:0001876 Pancytopenia 
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 HP:0001890 Autoimmune hemolytic anemia 
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 HP:0002028 Chronic diarrhea 
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 HP:0002090 Pneumonia 
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 HP:0002099 Asthma "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators]
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 HP:0002110 Bronchiectasis 
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 HP:0002583 Severe colitis 
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 HP:0002716 Lymphadenopathy 
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 HP:0002720 Decreased IgA 
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 HP:0002721 Immunodeficiency 
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 HP:0002850 Decreased IgM 
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 HP:0003676 Progressive disorder 
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 HP:0005263 Gastritis 
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 HP:0006528 Chronic lung disease 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0100759 Clubbing of fingers "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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