LRBA

Summary

LRBA (LPS responsive beige-like anchor protein, HGNC:1742) is a protein-coding gene on chromosome 4q31.3, encoding Lipopolysaccharide-responsive and beige-like anchor protein (P50851). Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.

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.

Source: NCBI Gene 987 — RefSeq curated summary.

At a glance

• Gene–disease (curated): combined immunodeficiency due to LRBA deficiency (Definitive, ClinGen)
• GWAS associations: 11
• Clinical variants (ClinVar): 2,607 total — 125 pathogenic, 72 likely-pathogenic
• Phenotypes (HPO): 45
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001364905

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1742
Approved symbol	LRBA
Name	LPS responsive beige-like anchor protein
Location	4q31.3
Locus type	gene with protein product
Status	Approved
Aliases	BGL, LAB300, LBA, uc.147
Ensembl gene	ENSG00000198589
Ensembl biotype	protein_coding
OMIM	606453
Entrez	987

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 18 protein_coding, 4 protein_coding_CDS_not_defined, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000357115, ENST00000502839, ENST00000503716, ENST00000507224, ENST00000508396, ENST00000508606, ENST00000510157, ENST00000510413, ENST00000510841, ENST00000513021, ENST00000514435, ENST00000515096, ENST00000648626, ENST00000648823, ENST00000648878, ENST00000649874, ENST00000651035, ENST00000651695, ENST00000651943, ENST00000697127, ENST00000697128, ENST00000697129, ENST00000697130, ENST00000911749, ENST00000911750, ENST00000911751, ENST00000911752, ENST00000911753

RefSeq mRNA: 4 — MANE Select: NM_001364905 NM_001199282, NM_001364905, NM_001367550, NM_006726

CCDS: CCDS3773, CCDS58928, CCDS93649, CCDS93650

Canonical transcript exons

ENST00000651943 — 57 exons

Exon	Start	End
ENSE00000740094	150928516	150928616
ENSE00000740095	150921198	150921293
ENSE00000740096	150915608	150915727
ENSE00000740097	150914195	150914341
ENSE00000740098	150908660	150908857
ENSE00000740099	150908334	150908467
ENSE00000740100	150906297	150906405
ENSE00000740101	150900049	150900217
ENSE00000740104	150868182	150868305
ENSE00000740106	150867671	150867863
ENSE00000740109	150850724	150850902
ENSE00000821053	150870525	150870606
ENSE00000821054	150871345	150871453
ENSE00000821057	150872663	150872755
ENSE00000821058	150893052	150893149
ENSE00000821060	150897739	150897818
ENSE00000821061	150905838	150905990
ENSE00000821062	150916401	150916527
ENSE00001081815	150321191	150321368
ENSE00001081818	150798081	150798142
ENSE00001081820	150828180	150828621
ENSE00001081822	150844658	150844779
ENSE00001081823	150808320	150808398
ENSE00001081824	150831817	150831976
ENSE00001081825	150848818	150848998
ENSE00001081826	150806271	150806404
ENSE00001081827	150849422	150849575
ENSE00001081828	150844100	150844207
ENSE00001081829	150817124	150817257
ENSE00001081830	150735258	150735366
ENSE00001200926	150851885	150852943
ENSE00001250081	150683551	150683717
ENSE00001250470	150896394	150896456
ENSE00001250476	150928834	150929065
ENSE00001428255	151014427	151014861
ENSE00001619686	150761783	150761847
ENSE00001777660	150916617	150916738
ENSE00003487176	150310229	150310384
ENSE00003487821	150467673	150467785
ENSE00003576042	150277853	150278004
ENSE00003583036	150435589	150435708
ENSE00003591436	150436724	150436864
ENSE00003613524	150315561	150315623
ENSE00003613781	150588048	150588184
ENSE00003621548	150487732	150487834
ENSE00003623119	150285933	150286034
ENSE00003626043	150325809	150325898
ENSE00003637749	150490918	150491035
ENSE00003661993	150471624	150471739
ENSE00003670996	150349992	150350159
ENSE00003683208	150590713	150590859
ENSE00003683395	150415438	150415590
ENSE00003688095	150599007	150599131
ENSE00003692138	150282450	150282646
ENSE00003692871	150302625	150302792
ENSE00003900801	150264435	150265812
ENSE00003902903	151015202	151015284

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 95.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.3310 / max 403.3496, expressed in 1806 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54335	11.1964	1776
54334	7.3897	1419
54333	2.5744	923
54336	0.4726	277
54332	0.2125	109
54307	0.1538	84
54308	0.1273	78
54310	0.0843	50
54309	0.0723	41
54306	0.0476	21

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	95.01	gold quality
bronchial epithelial cell	CL:0002328	94.99	gold quality
epithelium of bronchus	UBERON:0002031	93.59	gold quality
colonic epithelium	UBERON:0000397	93.55	gold quality
gingival epithelium	UBERON:0001949	93.19	gold quality
bronchus	UBERON:0002185	93.04	gold quality
esophagus squamous epithelium	UBERON:0006920	92.84	gold quality
epithelium of nasopharynx	UBERON:0001951	92.80	gold quality
corpus epididymis	UBERON:0004359	92.79	gold quality
gingiva	UBERON:0001828	92.57	gold quality
right uterine tube	UBERON:0001302	92.54	gold quality
choroid plexus epithelium	UBERON:0003911	92.49	gold quality
pigmented layer of retina	UBERON:0001782	92.33	gold quality
skin of hip	UBERON:0001554	92.27	gold quality
mucosa of sigmoid colon	UBERON:0004993	92.18	gold quality
tonsil	UBERON:0002372	91.97	gold quality
pancreatic ductal cell	CL:0002079	91.91	gold quality
squamous epithelium	UBERON:0006914	91.90	gold quality
colonic mucosa	UBERON:0000317	91.78	gold quality
epithelium of esophagus	UBERON:0001976	91.66	gold quality
oviduct epithelium	UBERON:0004804	91.66	gold quality
calcaneal tendon	UBERON:0003701	91.51	gold quality
caput epididymis	UBERON:0004358	91.48	gold quality
sperm	CL:0000019	91.40	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.06	gold quality
lower esophagus mucosa	UBERON:0035834	90.95	gold quality
adrenal tissue	UBERON:0018303	90.72	gold quality
upper arm skin	UBERON:0004263	90.66	gold quality
islet of Langerhans	UBERON:0000006	90.54	gold quality
nephron tubule	UBERON:0001231	90.52	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	49.94
E-ANND-3	yes	9.34

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, TP53

miRNA regulators (miRDB)

88 targeting LRBA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-3121-3P	99.82	71.96	3630

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 36)

• The crystal structure of the aPH-BEACH domains of LRBA were studied. (PMID:15554694)
• mutations in LRBA cause an immune deficiency characterized by defects in B cell activation and autophagy and by susceptibility to apoptosis, associated with a clinical phenotype of hypogammaglobulinemia and autoimmunity (PMID:22608502)
• A truncating mutation in LRBA, which abolished protein expression, was identified as the most likely candidate in a consanguineous family with chronic inflammatory bowel disease-like disorder and combined immunodeficiency. (PMID:22721650)
• LRBA deficiency is a novel cause of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome and Treg cell deficiency associated with metabolic dysfunction and increased apoptosis of Treg cells. (PMID:25468195)
• A homozygous missense mutation in lipopolysaccharide-responsive and beige-like anchor gene is associated with inflammatory bowel disease. (PMID:25479458)
• LRBA mutation was associated with an autoimmune lymphoproliferative syndrome-like disease characterized by splenomegaly and lymphadenopathy, cytopenia, elevated double negative T cells and raised serum Fas ligand levels. (PMID:25931386)
• Variants of LRBA were associated with common variable immunodeficiency. (PMID:26122175)
• Patients with LRBA deficiency manifested a dramatic and sustained improvement in response to abatacept, a CTLA4 (cytotoxic T lymphocyte antigen-4)-immunoglobulin fusion drug. (PMID:26206937)
• homozygous frame shift mutation results in refractory Celiac dsease (PMID:26686526)
• mutations result in various immunodeficiency phenotypes (PMID:26707784)
• diagnosis of LRBA deficiency was confirmed by a fluorescence-activated cell sorting-based immunoassay (PMID:26745254)
• Among 2 brothers homozygous for LPS responsive beige-like anchor protein (LRBA) mutation, one developed Evans syndrome and deceased at age 8.5, and his brother carried the same homozygous LRBA mutation with early-onset erosive polyarthritis. (PMID:27057999)
• Case Report: potential causative role of LRBA gene mutations in juvenile arthritis. (PMID:28134088)
• Assessing total CTLA-4 expression levels was found to be optimal when restricting analysis to the CD45RA(-)Foxp3(+) fraction. CTLA-4 induction following stimulation, and the use of lysosomal-blocking compounds, distinguished CTLA-4 from LRBA mutations (PMID:28159733)
• As diabetes was the presenting feature in six of nine individuals, we recommend that testing for LRBA mutations is considered in all patients with newly diagnosed neonatal diabetes and in those with infancy-onset diabetes (<12 months), especially when a recessive inheritance is suspected or additional autoimmune features are present (PMID:28473463)
• cTFH cell dysregulation in patients with LRBA deficiency reflects impaired control of TFH cell differentiation because of profoundly decreased CTLA4 expression on regulatory T cells and probably contributes to autoimmunity in patients with this disease. Serial monitoring of cTFH cell frequencies is highly useful in gauging the clinical response of LRBA-deficient patients to CTLA4-Ig therapy. (PMID:28601686)
• LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing. (PMID:28893864)
• The present results suggest that LRBA SNPs are associated with CWP susceptibility in a Chinese population. (PMID:28953250)
• Mutations found in 7 out of 18 children with Evans syndrome (ES) involved lipopolysaccharide-responsive beige-like anchor protein (LRBA) and cytotoxic T-lymphocyte protein 4 (CTLA-4). (PMID:29330115)
• LRBA Deficiency in Siblings. (PMID:29461210)
• This easy flow cytometry-based assay allows a fast screening of patients with suspicion of LRBA deficiency reducing therefore the number of patients requiring LRBA sequencing and accelerating the treatment implementation. Detection of biallelic mutations in LRBA is however required for a definitive diagnosis. (PMID:29740429)
• Our findings demonstrated an imbalance in Th subsets, mainly in Th1-like Th17 and Treg cells and their corresponding cytokines in LRBA deficiency, which might be important in the immunopathogenesis of autoimmunity and enteropathy. (PMID:29806698)
• We are the first to report normal CTLA-4 expression and normal Treg-cell function in the face of overactive TH17 immunity in an LRBA-deficient patient, illustrating that loss of CTLA-4 is not a prerequisite for autoimmunity in LRBA deficiency (PMID:30193839)
• CTLA-4 Expression in CD4+ T Cells From Patients With LRBA Deficiency. (PMID:30530390)
• lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency (PMID:30714845)
• Dissecting the localization of lipopolysaccharide-responsive and beige-like anchor protein (LRBA) in the endomembrane system. (PMID:31883622)
• Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients. (PMID:32506362)
• Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients. (PMID:33191838)
• Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency. (PMID:33710794)
• Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency. (PMID:33717114)
• Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review. (PMID:33788257)
• Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes. (PMID:33845048)
• Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency. (PMID:35491430)
• Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population. (PMID:36063261)
• Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients. (PMID:36074705)
• Arf1-dependent LRBA recruitment to Rab4 endosomes is required for endolysosome homeostasis. (PMID:39325073)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	lrba	ENSDARG00000031108
mus_musculus	Lrba	ENSMUSG00000028080
rattus_norvegicus	Lrba	ENSRNOG00000023453
caenorhabditis_elegans		WBGENE00004760
caenorhabditis_elegans		WBGENE00007752

Paralogs (7): NSMAF (ENSG00000035681), WDFY4 (ENSG00000128815), LYST (ENSG00000143669), NBEAL1 (ENSG00000144426), NBEAL2 (ENSG00000160796), WDFY3 (ENSG00000163625), NBEA (ENSG00000172915)

Protein

Protein identifiers

Lipopolysaccharide-responsive and beige-like anchor protein — P50851 (reviewed: P50851)

Alternative names: Beige-like protein, CDC4-like protein

All UniProt accessions (14): A0A3B3IS13, A0A3B3ISK3, A0A3B3IU76, A0A494BZW2, P50851, A0A494C0R9, A0A494C1L5, A0A8V8TKR0, A0A8V8TL26, A0A8V8TLZ6, A0A8V8TM79, E9PEM5, H0Y9N9, H0YA17

UniProt curated annotations — full annotation on UniProt →

Function. Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules. Involved in phagophore growth during mitophagy by regulating ATG9A trafficking to mitochondria.

Subunit / interactions. Interacts with TOM1 and TOLLIP.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Golgi apparatus. trans-Golgi network membrane. Lysosome membrane.

Tissue specificity. Ubiquitous.

Disease relevance. Immunodeficiency, common variable, 8, with autoimmunity (CVID8) [MIM:614700] An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The disease is caused by variants affecting the gene represented in this entry.

Induction. By bacterial lipopolysaccharides (LPS).

Isoforms (2)

UniProt ID	Names	Canonical?
P50851-1	1	yes
P50851-2	2

RefSeq proteins (4): NP_001186211, NP_001351834, NP_001354479, NP_006717 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000409	BEACH_dom	Domain
IPR001680	WD40_rpt	Repeat
IPR010508	NBEA-like_DUF1088	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR023362	PH-BEACH_dom	Domain
IPR031570	NBEA/BDCP_DUF4704	Domain
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR036372	BEACH_dom_sf	Homologous_superfamily
IPR046851	NBCH_WD40	Domain
IPR046852	Neurobeachin_a-sol	Domain
IPR050865	BEACH_Domain	Family

Pfam: PF02138, PF06469, PF13385, PF14844, PF15787, PF20425, PF20426

UniProt features (93 total): helix 23, modified residue 17, sequence variant 11, strand 10, compositionally biased region 7, repeat 6, region of interest 6, sequence conflict 3, domain 2, splice variant 2, turn 2, initiator methionine 1, chain 1, coiled-coil region 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1T77	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

No AlphaFold model available for P50851 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (17): 2, 10, 979, 1003, 1100, 1135, 1139, 1233, 1247, 1261, 1488, 1498, 1605, 1767, 1770, 2064, 2496

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 329 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_VACUOLE_ORGANIZATION, KAAB_FAILED_HEART_ATRIUM_DN, GOCC_VACUOLAR_MEMBRANE, TTTGTAG_MIR520D, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, CAGCTG_AP4_Q5, GOBP_MACROAUTOPHAGY, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION, GENTILE_UV_HIGH_DOSE_DN, ATTCTTT_MIR186, GOBP_ORGANELLE_ASSEMBLY, ZHANG_BREAST_CANCER_PROGENITORS_UP, CUI_TCF21_TARGETS_2_DN, CTTTGTA_MIR524

GO Biological Process (3): mitophagy (GO:0000423), intracellular protein localization (GO:0008104), protein localization to phagophore assembly site (GO:0034497)

GO Molecular Function (2): protein kinase binding (GO:0019901), protein binding (GO:0005515)

GO Cellular Component (9): lysosomal membrane (GO:0005765), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasm (GO:0005737), lysosome (GO:0005764), endoplasmic reticulum (GO:0005783)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
cellular anatomical structure	3
endomembrane system	2
intracellular membrane-bounded organelle	2
autophagy of mitochondrion	1
macroautophagy	1
macromolecule localization	1
autophagosome assembly	1
intracellular protein localization	1
kinase binding	1
binding	1
lysosome	1
lytic vacuole membrane	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
intracellular anatomical structure	1
lytic vacuole	1

Protein interactions and networks

STRING

964 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRBA	CTLA4	P16410	800
LRBA	PRKACA	P17612	718
LRBA	PRKACG	P22612	717
LRBA	PRKACB	P22694	717
LRBA	FBXW7	Q969H0	657
LRBA	PIK3R4	Q99570	656
LRBA	TTC7A	Q9ULT0	621
LRBA	TNFRSF13B	O14836	591
LRBA	DOCK8	Q8NF50	582
LRBA	STXBP2	Q15833	558
LRBA	TNFRSF13C	Q96RJ3	506
LRBA	FOXP3	Q9BZS1	499
LRBA	ICOS	Q9Y6W8	473
LRBA	PIK3R1	P27986	464
LRBA	PRKCD	Q05655	460

IntAct

126 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CTLA4	LRBA	psi-mi:“MI:0915”(physical association)	0.670
RCCD1	SPAG9	psi-mi:“MI:0914”(association)	0.640
RELT	OXSR1	psi-mi:“MI:0914”(association)	0.640
SLC1A1	AGPAT2	psi-mi:“MI:0914”(association)	0.640
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
RAB9A	CHM	psi-mi:“MI:2364”(proximity)	0.610
CT55	BLTP3B	psi-mi:“MI:0914”(association)	0.530
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
INSYN2A	CHUK	psi-mi:“MI:0914”(association)	0.530
RIC3	ATP9A	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
CTLA4	B4GALT5	psi-mi:“MI:0914”(association)	0.530
TGOLN2	PGRMC1	psi-mi:“MI:0914”(association)	0.420
LRBA	CTLA4	psi-mi:“MI:0915”(physical association)	0.400
LRBA	ABL1	psi-mi:“MI:0915”(physical association)	0.400
FYN	LRBA	psi-mi:“MI:0915”(physical association)	0.400
LRBA	H3C13	psi-mi:“MI:0915”(physical association)	0.400
LRBA	SENP1	psi-mi:“MI:0915”(physical association)	0.400
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
NOTCH1	CNOT1	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (241): LRBA (Affinity Capture-RNA), LRBA (Affinity Capture-MS), LRBA (Affinity Capture-MS), LRBA (Affinity Capture-MS), LRBA (Affinity Capture-MS), LRBA (Affinity Capture-MS), LRBA (Proximity Label-MS), LRBA (Proximity Label-MS), LRBA (Proximity Label-MS), LRBA (Affinity Capture-MS), LRBA (Affinity Capture-MS), LRBA (Affinity Capture-MS), LRBA (Affinity Capture-MS), LRBA (Affinity Capture-MS), LRBA (Affinity Capture-MS)

ESM2 similar proteins: A0JM23, A0M8T3, A1X154, A6H7D1, A7MBF6, A8Y5U1, B1WC10, E9Q9R9, F1M649, F1MHT9, O00750, O88480, O95876, P0CI65, P50851, Q008S8, Q00PJ3, Q07E17, Q07E30, Q07E43, Q09YN0, Q108U1, Q15052, Q2IBF5, Q2IBG0, Q2QLA4, Q2QLB5, Q32NR4, Q32NR9, Q3UP24, Q3V129, Q4V7F0, Q5XXR3, Q5ZLR6, Q692V3, Q6AZT7, Q6P2S7, Q6P3V7, Q6PIY5, Q6ZS30

Diamond homologs: A8XSV3, D4A929, E7FAW3, E9Q2M9, F4HZB2, F4IG73, F4JD14, F4JHT3, O35242, P0C6P0, P25356, P50851, P97412, Q19317, Q54PP7, Q54RQ8, Q55AV3, Q55DM1, Q562E7, Q5ND34, Q6VNB8, Q6ZNJ1, Q6ZQA0, Q6ZS30, Q6ZS81, Q7LKZ7, Q86JF2, Q8IZQ1, Q8NFP9, Q92636, Q99698, Q9DDD5, Q9EPN1, Q9ESE1, Q9TTK4, Q9W060, Q9W4E2, E7FEV0, F4JY12, Q10122

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
E2F1	“up-regulates quantity by expression”	LRBA	“transcriptional regulation”
TP53	“down-regulates quantity by repression”	LRBA	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 167 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
EPHA-mediated growth cone collapse	5	17.6×	2e-03
EPH-ephrin mediated repulsion of cells	6	12.2×	2e-03
Constitutive Signaling by Aberrant PI3K in Cancer	8	9.4×	1e-03
EPH-Ephrin signaling	6	9.2×	5e-03
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	8	7.2×	2e-03
PIP3 activates AKT signaling	9	5.6×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine phosphorylation	6	17.0×	2e-03
ephrin receptor signaling pathway	6	13.8×	2e-03
cell surface receptor protein tyrosine kinase signaling pathway	7	8.2×	5e-03
protein autophosphorylation	8	7.8×	2e-03
axon guidance	10	6.1×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

2607 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	125
Likely pathogenic	72
Uncertain significance	1226
Likely benign	910
Benign	112

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069622	NM_001364905.1(LRBA):c.5125_5152dup (p.Gln1718delinsArgTer)	Pathogenic
1070799	NM_001364905.1(LRBA):c.5980C>T (p.Arg1994Ter)	Pathogenic
1072644	NM_001364905.1(LRBA):c.6909G>A (p.Trp2303Ter)	Pathogenic
1072918	NM_001364905.1(LRBA):c.3830C>G (p.Ser1277Ter)	Pathogenic
1074569	NC_000004.11:g.(?151604683)(151604889_?)del	Pathogenic
1074570	NC_000004.11:g.(?151336570)(151520303_?)del	Pathogenic
1176175	NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter)	Pathogenic
1176176	NM_001364905.1(LRBA):c.6829del (p.Tyr2277fs)	Pathogenic
1177585	NM_001364905.1(LRBA):c.4261A>G (p.Ser1421Gly)	Pathogenic
1361756	NM_001364905.1(LRBA):c.448+1G>T	Pathogenic
1376199	NM_001364905.1(LRBA):c.6235del (p.Ser2079fs)	Pathogenic
1391949	NM_001364905.1(LRBA):c.1697del (p.Lys566fs)	Pathogenic
1392922	NM_001364905.1(LRBA):c.6269_6270delinsAA (p.Ser2090Ter)	Pathogenic
1415306	NM_001364905.1(LRBA):c.893del (p.Lys298fs)	Pathogenic
1419646	NC_000004.11:g.(?151814184)(151814321_?)del	Pathogenic
1419984	NM_001364905.1(LRBA):c.5060_5067del (p.Asn1687fs)	Pathogenic
1424023	NM_001364905.1(LRBA):c.488del (p.Asn163fs)	Pathogenic
1424030	NM_001364905.1(LRBA):c.2614del (p.Ser872fs)	Pathogenic
1452672	NM_001364905.1(LRBA):c.6319del (p.Ile2107fs)	Pathogenic
1453544	NM_001364905.1(LRBA):c.7928del (p.Asn2643fs)	Pathogenic
1455821	NM_001364905.1(LRBA):c.1736G>A (p.Trp579Ter)	Pathogenic
1457482	NM_001364905.1(LRBA):c.6551+1del	Pathogenic
1458653	NC_000004.11:g.(?151504182)(151656538_?)del	Pathogenic
1458881	NM_001364905.1(LRBA):c.2836_2839del (p.Glu945_Glu946insTer)	Pathogenic
1495928	NM_001364905.1(LRBA):c.5646-2A>T	Pathogenic
162667	NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter)	Pathogenic
1687335	NM_001364905.1(LRBA):c.534del (p.Asp179fs)	Pathogenic
1974806	NM_001364905.1(LRBA):c.5903G>A (p.Trp1968Ter)	Pathogenic
2011098	NM_001364905.1(LRBA):c.6979C>T (p.Arg2327Ter)	Pathogenic
2013113	NM_001364905.1(LRBA):c.2204_2205dup (p.Arg736fs)	Pathogenic

SpliceAI

10976 predictions. Top by Δscore:

Variant	Effect	Δscore
4:150265813:CTAGG:C	acceptor_loss	1.0000
4:150265814:T:A	acceptor_loss	1.0000
4:150266459:G:C	acceptor_gain	1.0000
4:150266459:G:GC	acceptor_gain	1.0000
4:150277852:CCT:C	donor_gain	1.0000
4:150277897:T:TA	donor_gain	1.0000
4:150282448:A:AC	donor_gain	1.0000
4:150282449:C:CC	donor_gain	1.0000
4:150282449:CT:C	donor_gain	1.0000
4:150302619:A:AC	donor_gain	1.0000
4:150302619:ACTT:A	donor_loss	1.0000
4:150302620:C:CC	donor_gain	1.0000
4:150302620:CTT:C	donor_loss	1.0000
4:150302621:TTA:T	donor_loss	1.0000
4:150302622:TACTG:T	donor_loss	1.0000
4:150302623:A:AC	donor_gain	1.0000
4:150302623:ACTGC:A	donor_gain	1.0000
4:150302624:C:CG	donor_gain	1.0000
4:150302624:CT:C	donor_gain	1.0000
4:150302624:CTG:C	donor_gain	1.0000
4:150302624:CTGCC:C	donor_gain	1.0000
4:150302789:CTTC:C	acceptor_gain	1.0000
4:150302790:TTC:T	acceptor_gain	1.0000
4:150302793:C:CC	acceptor_gain	1.0000
4:150302794:T:A	acceptor_loss	1.0000
4:150310381:CTGG:C	acceptor_gain	1.0000
4:150310382:TGG:T	acceptor_gain	1.0000
4:150310383:GG:G	acceptor_gain	1.0000
4:150310383:GGC:G	acceptor_loss	1.0000
4:150310384:GC:G	acceptor_loss	1.0000

AlphaMissense

18757 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:150302670:A:G	W2669R	1.000
4:150302670:A:T	W2669R	1.000
4:150321295:A:T	V2520D	1.000
4:150471681:A:G	W2215R	1.000
4:150471681:A:T	W2215R	1.000
4:150761839:T:A	Q1863H	1.000
4:150761839:T:G	Q1863H	1.000
4:150761842:C:A	W1862C	1.000
4:150761842:C:G	W1862C	1.000
4:150761843:C:G	W1862S	1.000
4:150761844:A:G	W1862R	1.000
4:150761844:A:T	W1862R	1.000
4:150798087:A:C	C1858W	1.000
4:150798094:A:G	L1856P	1.000
4:150806312:A:G	L1826P	1.000
4:150867841:A:G	W866R	1.000
4:150867841:A:T	W866R	1.000
4:150265786:C:A	G2843V	0.999
4:150265786:C:T	G2843E	0.999
4:150265798:C:T	G2839D	0.999
4:150285943:A:C	S2714R	0.999
4:150285943:A:T	S2714R	0.999
4:150285945:T:G	S2714R	0.999
4:150302678:A:G	L2666P	0.999
4:150302688:C:G	D2663H	0.999
4:150302694:A:G	S2661P	0.999
4:150302696:C:T	G2660E	0.999
4:150302697:C:A	G2660W	0.999
4:150302753:A:T	V2641D	0.999
4:150310254:A:C	S2619R	0.999

dbSNP variants (sampled 300 via entrez): RS1000001906 (4:150877815 A>C), RS1000003629 (4:150518860 TAAC>T), RS1000005145 (4:150560648 C>A,G), RS1000010116 (4:150941862 G>A), RS1000010980 (4:150468756 G>C), RS10000193 (4:150695941 A>G), RS1000022788 (4:150441642 T>C), RS1000026919 (4:150522910 G>A,C), RS1000027368 (4:150529296 A>G), RS1000029531 (4:150965205 A>T), RS1000030116 (4:150695888 A>C), RS1000037461 (4:150551075 T>G), RS1000038587 (4:150385037 C>T), RS1000039179 (4:150943928 T>C), RS1000045363 (4:150381197 ACATT>A)

Disease associations

OMIM: gene MIM:606453 | disease phenotypes: MIM:614700, MIM:156000, MIM:617296, MIM:615877, MIM:181500, MIM:142623, MIM:615401

GenCC curated gene-disease

Disease	Classification	Inheritance
combined immunodeficiency due to LRBA deficiency	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
combined immunodeficiency due to LRBA deficiency	Definitive	AR

Mondo (8): combined immunodeficiency due to LRBA deficiency (MONDO:0013863), Meniere disease (MONDO:0007972), spastic paraplegia, intellectual disability, nystagmus, and obesity (MONDO:0015007), colobomatous microphthalmia-rhizomelic dysplasia syndrome (MONDO:0014380), schizophrenia (MONDO:0005090), long QT syndrome (MONDO:0002442), Hirschsprung disease, susceptibility to, 1 (MONDO:0007723), severe combined immunodeficiency due to CORO1A deficiency (MONDO:0014168)

Orphanet (7): Syndromic autoimmune enteropathy due to LRBA deficiency (Orphanet:445018), Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome (Orphanet:521390), Colobomatous microphthalmia-rhizomelic dysplasia syndrome (Orphanet:424099), Hirschsprung disease (Orphanet:388), Severe combined immunodeficiency due to CORO1A deficiency (Orphanet:228003), NON RARE IN EUROPE: Menière disease (Orphanet:45360), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

45 total (30 of 45 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000403	Recurrent otitis media
HP:0000509	Conjunctivitis
HP:0000554	Uveitis
HP:0000821	Hypothyroidism
HP:0001045	Vitiligo
HP:0001369	Arthritis
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0001876	Pancytopenia
HP:0001890	Autoimmune hemolytic anemia
HP:0001973	Autoimmune thrombocytopenia
HP:0002028	Chronic diarrhea
HP:0002037	Inflammation of the large intestine
HP:0002090	Pneumonia
HP:0002099	Asthma
HP:0002110	Bronchiectasis
HP:0002205	Recurrent respiratory infections
HP:0002582	Atrophic gastritis
HP:0002583	Colitis
HP:0002665	Lymphoma
HP:0002716	Lymphadenopathy
HP:0002719	Recurrent infections
HP:0002720	Decreased circulating IgA concentration
HP:0002721	Immunodeficiency
HP:0002850	Decreased circulating total IgM
HP:0004315	Decreased circulating IgG concentration
HP:0005523	Lymphoproliferative disorder

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST001715_3	Bipolar disorder with mood-incongruent psychosis	1.000000e-07
GCST002997_2	Helix rolling	2.000000e-08
GCST003001_5	Ear morphology	4.000000e-08
GCST004079_1	Drug-induced hepatocellular liver injury	5.000000e-09
GCST006628_39	Systolic blood pressure	4.000000e-10
GCST007209_5	Gallstone disease	5.000000e-27
GCST010397_65	Gut microbiota (bacterial taxa, rank normal transformation method)	5.000000e-06
GCST90002398_461	Neutrophil count	1.000000e-13
GCST90002407_448	White blood cell count	1.000000e-13
GCST90011900_93	Serum alkaline phosphatase levels	3.000000e-18
GCST90013406_218	Liver enzyme levels (alkaline phosphatase)	2.000000e-26

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007670	helix rolling
EFO:0007664	outer ear morphology trait
EFO:0006335	systolic blood pressure
EFO:0007874	gut microbiome measurement
EFO:0004833	neutrophil count
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D008575	Meniere Disease	C09.218.568.217.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066253 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.78	Kd	167.1	nM	CHEMBL5653589
6.78	ED50	167.1	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148664: Binding affinity to human LRBA incubated for 45 mins by Kinobead based pull down assay	kd	0.1671	uM

CTD chemical–gene interactions

58 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	8
Aflatoxin B1	increases methylation, affects expression, decreases expression	5
Cisplatin	affects cotreatment, decreases expression, increases expression	3
Valproic Acid	affects expression, decreases methylation, increases expression	3
Acetaminophen	decreases expression	2
Air Pollutants	affects cotreatment, affects expression, affects oxidation, increases abundance, decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects oxidation, increases abundance, affects cotreatment, affects expression	1
bisphenol A	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression, increases abundance	1
cobaltous chloride	decreases expression	1
ochratoxin A	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects oxidation, increases abundance, affects cotreatment, affects expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
bicalutamide	increases expression	1
tamibarotene	affects expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651706	Binding	Binding affinity to human LRBA incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E0WI	Ubigene Jurkat, Clone E6-1 LRBA KO	Cancer cell line	Male
CVCL_SV80	HAP1 LRBA (-) 1	Cancer cell line	Male
CVCL_SV81	HAP1 LRBA (-) 2	Cancer cell line	Male
CVCL_SV82	HAP1 LRBA (-) 3	Cancer cell line	Male
CVCL_SV83	HAP1 LRBA (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01574313	PHASE4	COMPLETED	Effect of Stellate Ganglion Block on Meniere’s Disease
NCT02529475	PHASE4	TERMINATED	Evaluation of Inner Ear and Brain Structures With Contrast-enhanced MRI in Healthy Subjects (HYDROPS)
NCT04815187	PHASE4	ACTIVE_NOT_RECRUITING	Repurposed Use of Allergic Rhinitis and Allergic Asthma Drug to Reduce Vertigo and Hearing Loss in Meniere’s Disease
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia