Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
987
Gene name Gene Name - the full gene name approved by the HGNC.
LPS responsive beige-like anchor protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRBA
Synonyms (NCBI Gene) Gene synonyms aliases
BGL, CDC4L, CVID8, LAB300, LBA, uc.147
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 le
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs17027133 T>C Conflicting-interpretations-of-pathogenicity, benign Genic upstream transcript variant, missense variant, coding sequence variant
rs62346982 T>G Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs79392371 T>C Conflicting-interpretations-of-pathogenicity Synonymous variant, genic upstream transcript variant, coding sequence variant
rs114610541 A>C Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant, genic upstream transcript variant
rs116355217 T>C Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Missense variant, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040425 hsa-miR-615-3p CLASH 23622248
MIRT039203 hsa-miR-769-5p CLASH 23622248
MIRT038890 hsa-miR-93-3p CLASH 23622248
MIRT036310 hsa-miR-1229-3p CLASH 23622248
MIRT1117230 hsa-miR-1206 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
E2F1 Activation 15064745
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IMP 33773106
GO:0005515 Function Protein binding IPI 26206937, 31263572, 33961781
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606453 1742 ENSG00000198589
Protein
UniProt ID P50851
Protein name Lipopolysaccharide-responsive and beige-like anchor protein (Beige-like protein) (CDC4-like protein)
Protein function Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). Involved in phagophore growth during mitophagy by regulating ATG9A traffickin
PDB 1T77
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13385 Laminin_G_3 211 377 Domain
PF15787 DUF4704 446 717 Domain of unknown function (DUF4704) Family
PF06469 DUF1088 1880 2058 Domain of Unknown Function (DUF1088) Family
PF14844 PH_BEACH 2084 2181 PH domain associated with Beige/BEACH Domain
PF02138 Beach 2213 2489 Beige/BEACH domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12160729}.
Sequence
MASEDNRVPSPPPTGDDGGGGGREETPTEGGALSLKPGLPIRGIRMKFAVLTGLVEVGEV
SNRDIVETVFNLLVGGQFDLEMNFIIQEGESINCMVDLLEKCDITCQAEVWSMFTAILKK
SIRNLQVCTEVGLVEKVLGKIEKVDNMIADLLVDMLGVLASYNLTVRELKLFFSKLQGDK
GRWPPHAGKLLSVLKHMPQKYGPDAFFNFPGKSAAAIALPPIAKWPYQNGFTFHTWLRMD
PVNNINVDKDKPYLYCFRTSKGLGYSAHFVGGCLIVTSIKSKGKGFQHCVKFDFKPQKWY
MVTIVHIYNRWKNSELRCYVNGELASYGEITWFVNTSDTFDKCFLGSSETADANRVFCGQ
MTAVYLFSEALNAAQIF
AIYQLGLGYKGTFKFKAESDLFLAEHHKLLLYDGKLSSAIAFT
YNPRATDAQLCLESSPKDNPSIFVHSPHALMLQDVKAVLTHSIQSAMHSIGGVQVLFPLF
AQLDYRQYLSDEIDLTICSTLLAFIMELLKNSIAMQEQMLACKGFLVIGYSLEKSSKSHV
SRAVLELCLAFSKYLSNLQNGMPLLKQLCDHVLLNPAIWIHTPAKVQLMLYTYLSTEFIG
TVNIYNTIRRVGTVLLIMHTLKYYYWAVNPQDRSGITPKGLDGPRPNQKEMLSLRAFLLM
FIKQLVMKDSGVKEDELQAILNYLLTMHEDDNLMDVLQLLVALMSEHPNSMIPAFDQ
RNG
LRVIYKLLASKSEGIRVQALKAMGYFLKHLAPKRKAEVMLGHGLFSLLAERLMLQTNLIT
MTTYNVLFEILIEQIGTQVIHKQHPDPDSSVKIQNPQILKVIATLLRNSPQCPESMEVRR
AFLSDMIKLFNNSRENRRSLLQCSVWQEWMLSLCYFNPKNSDEQKITEMVYAIFRILLYH
AVKYEWGGWRVWVDTLSITHSKVTFEIHKENLANIFREQQGKVDEEIGLCSSTSVQAASG
IRRDINVSVGSQQPDTKDSPVCPHFTTNGNENSSIEKTSSLESASNIELQTTNTSYEEMK
AEQENQELPDEGTLEETLTNETRNADDLEVSSDIIEAVAISSNSFITTGKDSMTVSEVTA
SISSPSEEDASEMPEFLDKSIVEEEEDDDYVELKVEGSPTEEANLPTELQDNSLSPAASE
AGEKLDMFGNDDKLIFQEGKPVTEKQTDTETQDSKDSGIQTMTASGSSAMSPETTVSQIA
VESDLGQMLEEGKKATNLTRETKLINDCHGSVSEASSEQKIAKLDVSNVATDTERLELKA
SPNVEAPQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLT
DLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLS
AATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGIL
RQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPV
RDLDRLLQDMDINRLRAVVFRDIEDSKQAQFLALAVVYFISVLMVSKYRDILEPQNERHS
QSCTETGSENENVSLSEITPAAFSTLTTASVEESESTSSARRRDSGIGEETATGLGSHVE
VTPHTAPPGVSAGPDAISEVLSTLSLEVNKSPETKNDRGNDLDTKATPSVSVSKNVNVKD
ILRSLVNIPADGVTVDPALLPPACLGALGDLSVEQPVQFRSFDRSVIVAAKKSAVSPSTF
NTSIPTNAVSVVSSVDSAQASDMGGESPGSRSSNAKLPSVPTVDSVSQDPVSNMSITERL
EHALEKAAPLLREIFVDFAPFLSRTLLGSHGQELLIEGTSLVCMKSSSSVVELVMLLCSQ
EWQNSIQKNAGLAFIELVNEGRLLSQTMKDHLVRVANEAEFILSRQRAEDIHRHAEFESL
CAQYSADKREDEKMCDHLIRAAKYRDHVTATQLIQKIINILTDKHGAWGNSAVSRPLEFW
RLDYWEDDLRRRRRFVRNPLGSTHPEATLKTAVEHVCIFKLRENSKATDEDILAKGKQSI
RSQALGNQNSENEILLEG
DDDTLSSVDEKDLENLAGPVSLSTPAQLVAPSVVVKGTLSVT
SSELYFEVDEEDPNFKKIDPKILAYTEGLHGKWLFTEIRSIFSRRYLLQNTALEIFMANR
VAVMFNFPDPATVKKVVNYLP
RVGVGTSFGLPQTRRISLASPRQLFKASNMTQRWQHREI
SNFEYLMFLNTIAGRSYNDLNQYPVFPWVITNYESEELDLTLPTNFRDLSKPIGALNPKR
AAFFAERYESWEDDQVPKFHYGTHYSTASFVLAWLLRIEPFTTYFLNLQGGKFDHADRTF
SSISRAWRNSQRDTSDIKELIPEFYYLPEMFVNFNNYNLGVMDDGTVVSDVELPPWAKTS
EEFVHINRLALESEFVSCQLHQWIDLIFGYKQQGPEAVRALNVFYYLTYEGAVNLNSITD
PVLREAVEAQIRSFGQTPSQLLIEPHPPR
GSAMQVSPLMFTDKAQQDVIMVLKFPSNSPV
THVAANTQPGLATPAVITVTANRLFAVNKWHNLPAHQGAVQDQPYQLPVEIDPLIASNTG
MHRRQITDLLDQSIQVHSQCFVITSDNRYILVCGFWDKSFRVYSTDTGRLIQVVFGHWDV
VTCLARSESYIGGNCYILSGSRDATLLLWYWNGKCSGIGDNPGSETAAPRAILTGHDYEV
TCAAVCAELGLVLSGSQEGPCLIHSMNGDLLRTLEGPENCLKPKLIQASREGHCVIFYEN
GLFCTFSVNGKLQATMETDDNIRAIQLSRDGQYLLTGGDRGVVVVRQVSDLKQLFAYPGC
DAGIRAMALSYDQRCIISGMASGSIVLFYNDFNRWHHEYQTRY
Sequence length 2863
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency combined immunodeficiency due to lrba deficiency, Inherited Immunodeficiency Diseases rs1560914625, rs1206185362, rs755373718, rs1004337827, rs1560938296, rs1171694504, rs199469663, rs1484948342, rs1578971328, rs199469662, rs1561254290, rs199469664, rs1580875488, rs1578999313, rs727503779
View all (13 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholecystitis Cholecystitis N/A N/A GWAS
Cholelithiasis Cholelithiasis N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Hirschsprung Disease Hirschsprung disease, susceptibility to, 1 N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abruzzo Erickson syndrome Associate 25468195
Agammaglobulinemia Associate 22608502, 30386343, 32284663, 35413226, 36074705
Agricultural Workers' Diseases Associate 28953250
Alopecia Neurologic Defects and Endocrinopathy Syndrome Associate 36074705
Anemia Hemolytic Associate 35413226
Anemia Hemolytic Autoimmune Associate 35413226
Anthracosis Associate 28953250
Arthritis Associate 36078750
Autoimmune Diseases Associate 22608502, 28473463, 36078750
Autoimmune Diseases of the Nervous System Associate 36790564