LBR

Summary

LBR (lamin B receptor, HGNC:6518) is a protein-coding gene on chromosome 1q42.12, encoding Delta(14)-sterol reductase LBR (Q14739). Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis.

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.

Source: NCBI Gene 3930 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Greenberg dysplasia (Definitive, GenCC) — +2 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 486 total — 21 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 199
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_002296

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6518
Approved symbol	LBR
Name	lamin B receptor
Location	1q42.12
Locus type	gene with protein product
Status	Approved
Aliases	DHCR14B, TDRD18
Ensembl gene	ENSG00000143815
Ensembl biotype	protein_coding
OMIM	600024
Entrez	3930

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 25 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000272163, ENST00000338179, ENST00000421383, ENST00000424022, ENST00000425080, ENST00000441022, ENST00000487054, ENST00000488632, ENST00000651341, ENST00000885794, ENST00000885795, ENST00000885796, ENST00000885797, ENST00000885798, ENST00000885799, ENST00000885800, ENST00000885801, ENST00000885802, ENST00000885803, ENST00000933594, ENST00000933595, ENST00000933596, ENST00000933597, ENST00000945203, ENST00000945204, ENST00000945205, ENST00000945206, ENST00000945207, ENST00000945208, ENST00000945209

RefSeq mRNA: 2 — MANE Select: NM_002296 NM_002296, NM_194442

CCDS: CCDS1545

Canonical transcript exons

ENST00000272163 — 14 exons

Exon	Start	End
ENSE00000962089	225422077	225422277
ENSE00001071015	225423911	225424089
ENSE00001892518	225401502	225403463
ENSE00001894160	225427954	225428038
ENSE00002219018	225412454	225412645
ENSE00002219833	225415278	225415332
ENSE00002247606	225411337	225411440
ENSE00002254361	225417984	225418180
ENSE00002279308	225404626	225404706
ENSE00002281815	225419715	225419798
ENSE00002284747	225406664	225406832
ENSE00002307138	225404404	225404526
ENSE00003754323	225410291	225410416
ENSE00003788743	225419263	225419452

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.1700 / max 834.4108, expressed in 1813 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17691	39.1181	1813
17692	1.2233	682
17693	0.5910	330
17690	0.2377	108

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	98.89	gold quality
bone marrow	UBERON:0002371	98.39	gold quality
thymus	UBERON:0002370	98.10	gold quality
bone marrow cell	CL:0002092	97.79	gold quality
ventricular zone	UBERON:0003053	97.52	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.85	gold quality
seminal vesicle	UBERON:0000998	96.82	gold quality
vermiform appendix	UBERON:0001154	96.79	gold quality
caecum	UBERON:0001153	96.72	gold quality
sigmoid colon	UBERON:0001159	96.71	gold quality
visceral pleura	UBERON:0002401	96.69	gold quality
monocyte	CL:0000576	96.65	gold quality
mononuclear cell	CL:0000842	96.65	gold quality
leukocyte	CL:0000738	96.58	gold quality
blood	UBERON:0000178	96.41	gold quality
rectum	UBERON:0001052	96.35	gold quality
colonic epithelium	UBERON:0000397	96.32	gold quality
lymph node	UBERON:0000029	96.26	gold quality
secondary oocyte	CL:0000655	96.25	gold quality
pleura	UBERON:0000977	96.13	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.09	gold quality
parietal pleura	UBERON:0002400	96.01	gold quality
colonic mucosa	UBERON:0000317	95.98	gold quality
embryo	UBERON:0000922	95.94	gold quality
large intestine	UBERON:0000059	95.80	gold quality
corpus epididymis	UBERON:0004359	95.80	gold quality
cauda epididymis	UBERON:0004360	95.80	gold quality
colon	UBERON:0001155	95.76	gold quality
superficial temporal artery	UBERON:0001614	95.76	gold quality
saphenous vein	UBERON:0007318	95.61	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.69
E-CURD-88	no	3.71

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPE, GLI2, MYC, NFKB, SP1

miRNA regulators (miRDB)

144 targeting LBR, 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-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
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-12136	99.98	72.81	5713
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• The binding of lamin B receptor to chromatin is regulated by phosphorylation in the arginine-serine repeat-containing REGION (PMID:11846796)
• Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). (PMID:12118250)
• Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in this gene. (PMID:12618959)
• examination of temporal association with protamine 1 during spermiogenesis (PMID:14701833)
• SR protein kinase and cdc2 kinase regulate lamin B receptor binding to chromatin (PMID:14718546)
• MeCP2 interacts in vitro and in vivo with the inner nuclear membrane protein LBR, and the unstructured aminoacidic sequence linking the MBD and TRD domains of MeCP2 is responsible for this association. (PMID:19331822)
• results suggest that LMNA, ZMPSTE24, and LBR sequence variations are not major genetic determinants involved in scleroderma pathogenesis (PMID:19645629)
• LBR mutant variants and sterol reductases can severely interfere with the regular organization of the nuclear envelope and the endoplasmic reticulum. (PMID:19940018)
• LBR targets the membrane precursor vesicles to chromatin by interacting with importin beta in a LBR phosphorylation-dependent manner during the NE assembly at the end of mitosis (PMID:20576617)
• LBR is heavily expressed in papillary thyroid carcinoma cells, but an abnormal folding of the protein might explain its lack of immunohistochemical reactivity and be associated with the anomalous folding of the nuclear membrane. (PMID:21103616)
• a highly significant gene-dosage effect between the gene copy number and the nuclear segmentation index of neutrophils (PMID:21326950)
• LBR missense mutations can abolish sterol reductase activity, causing lethal Greenberg dysplasia but not Pelger anomaly (PMID:21327084)
• The LBR knockdown cells retain an ovoid shaped nucleus with reduced levels of lamin A/C during in vitro granulopoiesis induced with retinoic acid. (PMID:21327094)
• Our studies reveal for the first time a mechanism that controls the timing of nuclear envelope reassembly through modification of the integral nuclear membrane protein lamin B receptor (PMID:21795390)
• Lymphohematopoietic licence: sterol C-14 reductase activity of lamin B receptor (Lbr) is essential for neutrophil differentiation. (PMID:22581323)
• Mutation in LBR gene is associated with pelger-huet anomaly and a mild skeletal phenotype. (PMID:23824842)
• Lamin B receptor mRNA expression was directly associated with tumor grade in breast cancer patients(grade 1 vs. grade 3 - 0.00 vs. 0.00; p = 0.0479) and Nottingham Prognostic Index (NPI1 vs. NPI3 - 0.00 vs. 0.00; p = 0.0551). (PMID:24293108)
• We have shown here that lamin B receptor (LBR) showed a change in localization in both BrdU-induced and replicative senescent cells. (PMID:27059139)
• Data indicate that proto-oncogene protein c-akt (Akt) phosphorylates distinct sites than SRPK1 protein within the arginine-serine (RS) domain of Lamin B Receptor (LBR). (PMID:27105349)
• The authors demonstrate that human LBR is essential for cholesterol synthesis. (PMID:27336722)
• The primary response of cells to various stresses leading to senescence consists of the down-regulation of LBR and LB1 to attain reversal of the chromatin architecture. (PMID:27760841)
• These observations point to a new mechanism regulating the localization of LBR, which is governed by an ELYS-mediated phosphorylation network. (PMID:27802161)
• This report provides further evidence for a phenotypic spectrum of LBR-associated disorders and expands the genotypic spectrum by describing 3 novel disease-causing variants that have not been previously associated with a disease. (PMID:30448303)
• A common pathogenic mechanism in GMAP-210- and LBR-related diseases attributable to defective secretory trafficking at the Golgi apparatus. (PMID:30518689)
• LBR represents an instructive example of one gene presenting with two different patterns of inheritance and at least three different clinical phenotypes. (PMID:30561119)
• These results suggested that decreased LBR function is involved in the induction of cellular senescence in human cells. (PMID:30615890)
• MiR-222/LBR have key roles in controlling pro-progression influences of cancer-associated fibroblasts in breast cancer. (PMID:31481734)
• The c.893G>A (p.Gly298Glu) mutation in the LBR gene probably underlies the Pelger-Husmall io, Russiant anomaly in this pedigree (PMID:31515787)
• Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome. (PMID:31825172)
• Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally. (PMID:31911440)
• The role of lamin B receptor in the regulation of senescence-associated secretory phenotype (SASP). (PMID:32126237)
• TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis. (PMID:32694168)
• A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huet anomaly. (PMID:32827848)
• Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor. (PMID:33958580)
• Reduction of lamin B receptor levels by miR-340-5p disrupts chromatin, promotes cell senescence and enhances senolysis. (PMID:34181735)
• Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads to Changes in Heterochromatin State and Senescence Induction in Malignant Melanoma. (PMID:35883595)
• Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis. (PMID:36124691)
• Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. (PMID:36400164)
• Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization. (PMID:36598800)
• Upregulated expression of lamin B receptor increases cell proliferation and suppresses genomic instability: implications for cellular immortalization. (PMID:38462947)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	lbr	ENSDARG00000014013
mus_musculus	Lbr	ENSMUSG00000004880
rattus_norvegicus	Lbr	ENSRNOG00000052574

Paralogs (2): TM7SF2 (ENSG00000149809), DHCR7 (ENSG00000172893)

Protein

Protein identifiers

Delta(14)-sterol reductase LBR — Q14739 (reviewed: Q14739)

Alternative names: 3-beta-hydroxysterol Delta (14)-reductase, C-14 sterol reductase, Integral nuclear envelope inner membrane protein, LMN2R, Lamin-B receptor, Sterol C14-reductase

All UniProt accessions (4): Q14739, A0A494C1L1, C9JES9, C9JXK0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis. Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation. Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation. Anchors the lamina and the heterochromatin to the inner nuclear membrane.

Subunit / interactions. Interacts with CBX5. Interacts with DNA. Interaction with DNA is sequence independent with higher affinity for supercoiled and relaxed circular DNA than linear DNA. Interacts with lamin B. Interacts with CLNK. Interacts with TMEM147; promoting LBR localization to the nucleus inner membrane.

Subcellular location. Nucleus inner membrane. Endoplasmic reticulum membrane. Cytoplasm. Nucleus.

Tissue specificity. Expressed in the bone marrow, liver, heart, adrenal gland, lung, placenta and uterus. Expressed in osteoclasts and osteoblast-like cells.

Post-translational modifications. Phosphorylated by CDK1 in mitosis when the inner nuclear membrane breaks down into vesicles that dissociate from the lamina and the chromatin. It is phosphorylated by different protein kinases in interphase when the membrane is associated with these structures. Phosphorylation of LBR and HP1 proteins may be responsible for some of the alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle. Phosphorylated by SRPK1. In late anaphase LBR is dephosphorylated, probably by PP1 and/or PP2A, allowing reassociation with chromatin.

Disease relevance. Pelger-Huet anomaly (PHA) [MIM:169400] An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure. The disease is caused by variants affecting the gene represented in this entry. Greenberg dysplasia (GRBGD) [MIM:215140] A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers. The disease is caused by variants affecting the gene represented in this entry. Reynolds syndrome (REYNS) [MIM:613471] A syndrome specifically associating limited cutaneous systemic sclerosis and primary biliary cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis. The disease may be caused by variants affecting the gene represented in this entry. Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) [MIM:618019] A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes, short stature, and mild skeletal anomalies. Initial skeletal features may improve with age. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3.

Pathway. Steroid biosynthesis; cholesterol biosynthesis.

Similarity. Belongs to the ERG4/ERG24 family.

RefSeq proteins (2): NP_002287, NP_919424 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001171	ERG24_DHCR-like	Family
IPR002999	Tudor	Domain
IPR018083	Sterol_reductase_CS	Conserved_site
IPR019023	Lamin-B_rcpt_of_tudor	Domain

Pfam: PF01222, PF09465

Enzyme classification (BRENDA):

• EC 1.3.1.70 — DELTA14-sterol reductase (BRENDA: 16 organisms, 57 substrates, 84 inhibitors, 12 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
4,4-DIMETHYL-5ALPHA-CHOLESTA-7,14-DIEN-3BETA-OL	0.0294–0.0345	3
NADPH	0.023–0.6	2
4ALPHA-METHYL-5ALPHA-ERGOSTA-8,14,24(28)-TRIEN-3	0.1	1
5ALPHA-CHOLESTA-8,14-DIEN-3BETA-OL	0.45	1
ERGOSTA-8,14-DIEN-3BETA-OL	0.06	1

Catalyzed reactions (Rhea), 3 shown:

• 4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP(+) = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H(+) (RHEA:18561)
• 5alpha-cholest-8,14-dien-3beta-ol + NADPH + H(+) = 5alpha-cholest-8-en-3beta-ol + NADP(+) (RHEA:46456)
• 4,4-dimethyl-8,14-cholestadien-3beta-ol + NADPH + H(+) = 4,4-dimethyl-5alpha-cholest-8-en-3beta-ol + NADP(+) (RHEA:46812)

UniProt features (47 total): modified residue 13, sequence variant 11, transmembrane region 8, strand 4, sequence conflict 3, turn 3, chain 1, topological domain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DIG	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14739-F1	76.89	0.46

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 (13): 55, 58, 59, 67, 71, 86, 97, 99, 118, 128, 200, 594, 601

Function

Pathways and Gene Ontology

Reactome pathways

29 pathways

ID	Pathway
R-HSA-2995383	Initiation of Nuclear Envelope (NE) Reformation
R-HSA-6807047	Cholesterol biosynthesis via desmosterol (Bloch pathway)
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013405	RHOD GTPase cycle
R-HSA-9013408	RHOG GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-9022692	Regulation of MECP2 expression and activity
R-HSA-191273	Cholesterol biosynthesis
R-HSA-1430728	Metabolism
R-HSA-162582	Signal Transduction
R-HSA-1640170	Cell Cycle
R-HSA-194315	Signaling by Rho GTPases
R-HSA-212436	Generic Transcription Pathway
R-HSA-2555396	Mitotic Metaphase and Anaphase
R-HSA-2995410	Nuclear Envelope (NE) Reassembly
R-HSA-556833	Metabolism of lipids
R-HSA-68882	Mitotic Anaphase
R-HSA-68886	M Phase
R-HSA-69278	Cell Cycle, Mitotic
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8957322	Metabolism of steroids
R-HSA-8986944	Transcriptional Regulation by MECP2
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 737 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, MORF_DNMT1, MODULE_97, HORIUCHI_WTAP_TARGETS_DN, MODULE_151, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, MATTIOLI_MGUS_VS_PCL, MORF_RRM1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, MODULE_182, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION

GO Biological Process (8): cholesterol biosynthetic process (GO:0006695), neutrophil differentiation (GO:0030223), random inactivation of X chromosome (GO:0060816), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694), steroid metabolic process (GO:0008202), cholesterol metabolic process (GO:0008203), sterol biosynthetic process (GO:0016126)

GO Molecular Function (10): DNA binding (GO:0003677), RNA binding (GO:0003723), lamin binding (GO:0005521), Delta14-sterol reductase activity (GO:0050613), chromo shadow domain binding (GO:0070087), NADPH binding (GO:0070402), chromatin-protein adaptor activity (GO:0140463), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)

GO Cellular Component (11): fibrillar center (GO:0001650), nucleus (GO:0005634), nuclear envelope (GO:0005635), nuclear inner membrane (GO:0005637), nuclear lamina (GO:0005652), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), nuclear membrane (GO:0031965), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
RHO GTPase cycle	8
Nuclear Envelope (NE) Reassembly	1
Cholesterol biosynthesis	1
Transcriptional Regulation by MECP2	1
Metabolism of steroids	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
RNA Polymerase II Transcription	1
M Phase	1
Mitotic Anaphase	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
sterol metabolic process	2
nucleic acid binding	2
intracellular membrane-bounded organelle	2
nucleus	2
endomembrane system	2
nuclear envelope	2
organelle membrane	2
cholesterol metabolic process	1
sterol biosynthetic process	1
secondary alcohol biosynthetic process	1
granulocyte differentiation	1
dosage compensation by inactivation of X chromosome	1
primary metabolic process	1
steroid metabolic process	1
lipid biosynthetic process	1
lipid metabolic process	1
secondary alcohol metabolic process	1
steroid biosynthetic process	1
protein binding	1
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	1
protein domain specific binding	1
anion binding	1
NADP binding	1
chromatin binding	1
chromatin organization	1
protein-macromolecule adaptor activity	1
binding	1
catalytic activity	1
oxidoreductase activity, acting on the CH-CH group of donors	1
nucleolus	1
organelle envelope	1
organelle inner membrane	1
nuclear membrane	1
nuclear periphery	1
nuclear lumen	1
intracellular anatomical structure	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1

Protein interactions and networks

STRING

2178 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LBR	LMNB1	P20700	998
LBR	LMNB2	Q03252	998
LBR	EMD	P50402	944
LBR	CBX3	Q13185	934
LBR	LEMD3	Q9Y2U8	903
LBR	CBX5	P45973	899
LBR	MECP2	P51608	896
LBR	H3-3A	P06351	869
LBR	H3C14	Q71DI3	869
LBR	H3-5	Q6NXT2	869
LBR	H3C1	P02295	869
LBR	H3-4	Q16695	869
LBR	H3-7	Q5TEC6	869
LBR	BANF1	O75531	852
LBR	BANF2	Q9H503	821

IntAct

213 interactions, top by confidence:

A	B	Type	Score
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
LBR	MAD2L1BP	psi-mi:“MI:0914”(association)	0.730
MAD2L1BP	LBR	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
MAD2L1	INSR	psi-mi:“MI:0914”(association)	0.700
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
RSRP1	PSME3	psi-mi:“MI:0914”(association)	0.640
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
	DDX3X	psi-mi:“MI:0914”(association)	0.630
CBX3	LBR	psi-mi:“MI:0915”(physical association)	0.620
LBR	CBX3	psi-mi:“MI:0407”(direct interaction)	0.620
LBR	CBX5	psi-mi:“MI:0915”(physical association)	0.610
CBX5	LBR	psi-mi:“MI:0915”(physical association)	0.610
LBR	CBX5	psi-mi:“MI:0914”(association)	0.610
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
CD81	LBR	psi-mi:“MI:0915”(physical association)	0.560
LBR	C1QBP	psi-mi:“MI:0915”(physical association)	0.560
LBR	ZNF579	psi-mi:“MI:0915”(physical association)	0.560
RPL28	MAGEB2	psi-mi:“MI:0914”(association)	0.560
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
BHLHA15	RPLP0	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
CLEC3A	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MAD2L1BP	KIF20A	psi-mi:“MI:0914”(association)	0.530

BioGRID (398): LBR (Affinity Capture-MS), LBR (Affinity Capture-MS), LBR (Affinity Capture-MS), LBR (Affinity Capture-MS), LBR (Affinity Capture-MS), LBR (Biochemical Activity), LBR (Proximity Label-MS), LBR (Proximity Label-MS), LBR (Proximity Label-MS), LBR (Proximity Label-MS), LBR (Proximity Label-MS), LBR (Affinity Capture-MS), LBR (Affinity Capture-MS), LBR (Affinity Capture-MS), LBR (Two-hybrid)

ESM2 similar proteins: A0A078H868, A0AAS4, A0JP80, A6X919, D4AD75, O70536, O77760, O77761, P23913, P35610, P53439, P56079, Q14739, Q20696, Q20735, Q28677, Q2PZI1, Q4JM44, Q4R763, Q5R7H4, Q5RK27, Q60457, Q61263, Q63632, Q63633, Q657W3, Q6AX73, Q6Z0E2, Q7T3T4, Q7TSX5, Q86VZ5, Q8IWX5, Q8NHU3, Q8VCQ6, Q91V14, Q924N4, Q965Q4, Q9D4B1, Q9FJB4, Q9H2X9

Diamond homologs: A0A1D8PIC7, G4SW86, I1RF79, I1RR90, I1RZZ3, O08984, O13597, O76062, O88455, P23913, P25340, P32462, P36209, P38670, P78575, Q01447, Q09195, Q14739, Q3U9G9, Q4WJ59, Q4WJJ9, Q4WKA5, Q4WW43, Q54PP1, Q5E9J5, Q5R7H4, Q5UQI4, Q6P4M0, Q71KT5, Q7SXF1, Q7ZXH1, Q8WMV1, Q9LDR4, Q9LDU6, Q9UBM7, Q9Z2Z8, A0A1D8PJ25, Q8MLV1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CDK1	down-regulates	LBR	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 232 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	25.8×	3e-05
Activation of BAD and translocation to mitochondria	5	24.4×	3e-04
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	21.5×	3e-04
Activation of BH3-only proteins	5	15.9×	7e-04
RHO GTPases activate PKNs	6	12.2×	5e-04
Signaling by high-kinase activity BRAF mutants	6	12.2×	5e-04
DAP12 signaling	5	11.8×	2e-03
Intrinsic Pathway for Apoptosis	6	11.3×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	21
Likely pathogenic	4
Uncertain significance	239
Likely benign	114
Benign	36

Top pathogenic / likely-pathogenic (25)

Variant ID	HGVS	Classification
100901	NM_002296.4(LBR):c.1748G>A (p.Arg583Gln)	Pathogenic
100902	NM_002296.4(LBR):c.32_35del (p.Val11fs)	Pathogenic
100903	NM_002296.4(LBR):c.1402del (p.Tyr468fs)	Pathogenic
1339424	NM_002296.4(LBR):c.366+1G>T	Pathogenic
1339425	NM_002296.4(LBR):c.1379A>G (p.Asp460Gly)	Pathogenic
1390897	NM_002296.4(LBR):c.1741_1742del (p.Val581fs)	Pathogenic
1441841	NM_002296.4(LBR):c.403dup (p.Glu135fs)	Pathogenic
2078992	NM_002296.4(LBR):c.638dup (p.Gly214fs)	Pathogenic
2106050	NM_002296.4(LBR):c.1A>G (p.Met1Val)	Pathogenic
2151919	NM_002296.4(LBR):c.43C>T (p.Arg15Ter)	Pathogenic
224876	NM_002296.4(LBR):c.226C>T (p.Arg76Ter)	Pathogenic
2424393	NC_000001.10:g.(?225591005)(225605902_?)del	Pathogenic
419545	NM_002296.4(LBR):c.1748G>T (p.Arg583Leu)	Pathogenic
4538625	NM_002296.4(LBR):c.48G>A (p.Trp16Ter)	Pathogenic
4803593	NM_002296.4(LBR):c.265C>T (p.Arg89Ter)	Pathogenic
545625	NM_002296.4(LBR):c.651_653delinsTGATGAGAAA (p.Ile218fs)	Pathogenic
9527	NM_002296.4(LBR):c.1565-10_1565-5del	Pathogenic
9528	NM_002296.4(LBR):c.166-2A>G	Pathogenic
9529	NM_002296.4(LBR):c.1599_1605delinsCTAGAAG (p.Leu534_Leu535delinsTer)	Pathogenic
9531	NM_002296.4(LBR):c.1484-9A>G	Pathogenic
9532	NM_002296.4(LBR):c.1706C>G (p.Pro569Arg)	Pathogenic
1676661	NM_002296.4(LBR):c.235C>T (p.Arg79Ter)	Likely pathogenic
2635414	NM_002296.4(LBR):c.1430_1433del (p.Ser477fs)	Likely pathogenic
446676	NM_002296.4(LBR):c.1174G>A (p.Gly392Arg)	Likely pathogenic
4721476	NM_002296.4(LBR):c.1483+2T>A	Likely pathogenic

SpliceAI

2429 predictions. Top by Δscore:

Variant	Effect	Δscore
1:225404621:CTT:C	donor_loss	1.0000
1:225404622:TTA:T	donor_loss	1.0000
1:225404623:TA:T	donor_loss	1.0000
1:225404624:AC:A	donor_loss	1.0000
1:225404624:ACGTG:A	donor_gain	1.0000
1:225404625:CG:C	donor_gain	1.0000
1:225404625:CGT:C	donor_gain	1.0000
1:225404625:CGTG:C	donor_gain	1.0000
1:225404625:CGTGC:C	donor_gain	1.0000
1:225404702:ACAAA:A	acceptor_gain	1.0000
1:225404703:CAAA:C	acceptor_gain	1.0000
1:225404703:CAAAC:C	acceptor_gain	1.0000
1:225404704:AAA:A	acceptor_gain	1.0000
1:225404705:AA:A	acceptor_gain	1.0000
1:225404706:ACTG:A	acceptor_loss	1.0000
1:225404707:C:CC	acceptor_gain	1.0000
1:225404707:CT:C	acceptor_loss	1.0000
1:225406662:A:AC	donor_gain	1.0000
1:225406663:C:CC	donor_gain	1.0000
1:225406663:CGTTT:C	donor_gain	1.0000
1:225406830:TTCC:T	acceptor_loss	1.0000
1:225406831:TCCT:T	acceptor_loss	1.0000
1:225406834:T:A	acceptor_loss	1.0000
1:225415290:A:AC	donor_gain	1.0000
1:225415291:C:CC	donor_gain	1.0000
1:225420839:C:CT	donor_gain	1.0000
1:225420840:T:TT	donor_gain	1.0000
1:225422073:GTACC:G	donor_loss	1.0000
1:225422074:TACCA:T	donor_loss	1.0000
1:225422075:ACCAG:A	donor_loss	1.0000

AlphaMissense

4012 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:225404655:C:G	R512P	0.998
1:225424030:A:G	W16R	0.998
1:225424030:A:T	W16R	0.998
1:225404458:G:C	H545D	0.997
1:225404666:T:A	K508N	0.997
1:225404666:T:G	K508N	0.997
1:225424028:C:A	W16C	0.997
1:225424028:C:G	W16C	0.997
1:225424035:C:T	G14D	0.997
1:225403354:C:A	W599C	0.996
1:225403354:C:G	W599C	0.996
1:225403403:C:G	R583P	0.996
1:225404473:A:G	W540R	0.996
1:225404473:A:T	W540R	0.996
1:225404667:T:A	K508I	0.996
1:225424032:C:G	R15P	0.996
1:225403356:A:G	W599R	0.995
1:225403356:A:T	W599R	0.995
1:225423930:A:G	L49S	0.995
1:225424036:C:G	G14R	0.995
1:225404419:A:G	W558R	0.994
1:225404419:A:T	W558R	0.994
1:225404471:C:A	W540C	0.994
1:225404471:C:G	W540C	0.994
1:225423936:A:G	L47P	0.994
1:225403347:A:C	Y602D	0.993
1:225404490:A:G	L534P	0.993
1:225404667:T:G	K508T	0.993
1:225404442:C:T	G550D	0.992
1:225404668:T:C	K508E	0.992

dbSNP variants (sampled 300 via entrez): RS1000066037 (1:225402902 G>A), RS1000283577 (1:225424834 T>G), RS1000310152 (1:225419165 G>A), RS1000428178 (1:225403537 A>G), RS1000488930 (1:225421542 G>A,T), RS1000760964 (1:225413481 C>T), RS1000785818 (1:225418871 T>A,C), RS1000848155 (1:225409521 T>C), RS1000904810 (1:225427129 G>C), RS1001051592 (1:225415436 C>A,T), RS1001060733 (1:225421841 G>A,T), RS1001063994 (1:225401081 A>G), RS1001261503 (1:225428986 T>C), RS1001311354 (1:225402908 T>A), RS1001574571 (1:225403206 T>A,C)

Disease associations

OMIM: gene MIM:600024 | disease phenotypes: MIM:169400, MIM:215140, MIM:613471, MIM:618019, MIM:208500

GenCC curated gene-disease

Disease	Classification	Inheritance
Greenberg dysplasia	Definitive	Autosomal recessive
Pelger-Huet anomaly	Strong	Autosomal dominant
regressive spondylometaphyseal dysplasia	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
Greenberg dysplasia	Moderate	AR
regressive spondylometaphyseal dysplasia	Moderate	AR

Mondo (6): Pelger-Huet anomaly (MONDO:0008214), Greenberg dysplasia (MONDO:0008974), Reynolds syndrome (MONDO:0013276), regressive spondylometaphyseal dysplasia (MONDO:0018663), connective tissue disorder (MONDO:0003900), Jeune syndrome (MONDO:0018770)

Orphanet (4): Greenberg dysplasia (Orphanet:1426), Regressive spondylometaphyseal dysplasia (Orphanet:448267), Reynolds syndrome (Orphanet:779), Jeune syndrome (Orphanet:474)

HPO phenotypes

199 total (30 of 199 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000164	Abnormality of the dentition
HP:0000212	Gingival overgrowth
HP:0000214	Lip telangiectasia
HP:0000217	Xerostomia
HP:0000256	Macrocephaly
HP:0000278	Retrognathia
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0000336	Prominent supraorbital ridges
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000369	Low-set ears
HP:0000403	Recurrent otitis media
HP:0000457	Depressed nasal ridge
HP:0000476	Cystic hygroma
HP:0000486	Strabismus
HP:0000773	Short ribs
HP:0000774	Narrow chest
HP:0000782	Abnormal scapula morphology
HP:0000878	11 pairs of ribs
HP:0000888	Horizontal ribs
HP:0000890	Long clavicles
HP:0000926	Platyspondyly
HP:0000952	Jaundice
HP:0000964	Eczematoid dermatitis
HP:0000988	Skin rash
HP:0000989	Pruritus
HP:0001004	Lymphedema

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005851_25	Delirium	4.000000e-06
GCST011741_10	LDL cholesterol levels in HIV infection	2.000000e-06
GCST011741_74	LDL cholesterol levels in HIV infection	2.000000e-06
GCST90002392_254	Mean corpuscular volume	2.000000e-12
GCST90002397_752	Mean spheric corpuscular volume	5.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D003240	Connective Tissue Diseases	C17.300
D010381	Pelger-Huet Anomaly	C15.378.553.696; C16.320.784
C535858	HEM dysplasia (supp.)
C537571	Jeune syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067271 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.09	Kd	81.59	nM	CHEMBL5653589
7.09	ED50	81.59	nM	CHEMBL5653589
5.24	Kd	5781	nM	CHEMBL3752910
5.24	ED50	5781	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 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	2148642: Binding affinity to human LBR incubated for 45 mins by Kinobead based pull down assay	kd	0.0816	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148642: Binding affinity to human LBR incubated for 45 mins by Kinobead based pull down assay	kd	5.7809	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, decreases methylation, increases expression, affects cotreatment	3
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	2
Resveratrol	affects cotreatment, increases expression	2
Acrolein	affects cotreatment, increases expression, increases abundance	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
Cadmium	decreases reaction, increases abundance, increases palmitoylation, decreases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Hydrogen Peroxide	affects expression, decreases expression	2
Ozone	increases expression, increases abundance, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sodium arsenite	decreases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
imidazopyrazole	increases expression	1
nickel sulfate	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
obeticholic acid	decreases expression	1
gypenoside	decreases expression	1
abrine	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
picoxystrobin	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Leflunomide	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
CHEMBL5651684	Binding	Binding affinity to human LBR 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

2 cell lines: 1 transformed cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3A3	Abcam HEK293T LBR KO	Transformed cell line	Female
CVCL_E2AZ	HAP1 LBR (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01042158	PHASE4	COMPLETED	A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04197050	PHASE4	UNKNOWN	Effect of Sacubitril/Valsartan on Reduced Right Ventricular Ejection Fraction in Patients With CTD
NCT04928586	PHASE4	UNKNOWN	Immunosuppressant Combined With Pirfenidone in CTD-ILD
NCT05440240	PHASE4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT05505409	PHASE4	UNKNOWN	Efficacy and Safety of Pirfenidone in CTD-ILD
NCT06499233	PHASE4	RECRUITING	Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease
NCT00864201	PHASE3	UNKNOWN	A Study to Evaluate the Use of Bosentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Associated With Connective Tissue Disease
NCT01196091	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01205438	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01488708	PHASE3	TERMINATED	On Open-Label Study in Participants With Systemic Lupus Erythematosus
NCT03626688	PHASE3	COMPLETED	A Study Evaluating the Efficacy and Safety of Ralinepag to Improve Treatment Outcomes in PAH Patients
NCT03683186	PHASE3	ENROLLING_BY_INVITATION	A Study Evaluating the Long-Term Efficacy and Safety of Ralinepag in Subjects With PAH Via an Open-Label Extension
NCT04084678	PHASE3	TERMINATED	A Study of Ralinepag to Evaluate Effects on Exercise Capacity by CPET in Subjects With WHO Group 1 PH
NCT06716606	PHASE3	RECRUITING	A Study to Investigate the Long-term Safety and Efficacy of Belimumab in Adults With Interstitial Lung Disease (ILD) Associated With Systemic Sclerosis (SSc) and Other Connective Tissue Diseases (CTD) (BLISSconneCTD-OLE)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT00004357	PHASE2	COMPLETED	Absorption of Corticosteroids in Children With Juvenile Dermatomyositis
NCT00005675	PHASE2	COMPLETED	Oral Type I Collagen for Relieving Scleroderma
NCT01808196	PHASE2	COMPLETED	Testing Effectiveness of Losartan in Patients With EoE With or Without a CTD
NCT02682511	PHASE2	ACTIVE_NOT_RECRUITING	Oral Ifetroban to Treat Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension
NCT04993885	PHASE2	RECRUITING	Avatrombopag in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
NCT05516758	PHASE2	TERMINATED	A Study of Peresolimab (LY3462817) in Participants With Moderately-to-Severely Active Rheumatoid Arthritis
NCT05998759	PHASE2	RECRUITING	Telitacicept for the Treatment of Connective Tissue Disease-associated Thrombocytopenia
NCT06104228	PHASE2	RECRUITING	129 Xenon MRI as a Biomarker for Diagnosis and Response to Therapy in Pulmonary Arterial Hypertension (PAH)
NCT01093911	PHASE1	COMPLETED	Safety Study of CDP7657 in Healthy Volunteers and Patients With Systemic Lupus Erythematosus (SLE)
NCT01764594	PHASE1	COMPLETED	Safety Study of CDP7657 in Patients With Systemic Lupus Erythematosus
NCT02392130	PHASE1	COMPLETED	A Clinical Trial to Assess the Potential of LEO 130852A Gel to Reduce Steroid Induced Skin Atrophy on Healthy Skin
NCT03337165	PHASE1	COMPLETED	Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis
NCT03929120	PHASE1	COMPLETED	Allogeneic Bone Marrow Mesenchymal Stem Cells for Patients With Interstitial Lung Disease (ILD) & Connective Tissue Disorders (CTD)
NCT01424033	PHASE2/PHASE3	TERMINATED	A Clinical Trial for CTD-ILD Treatment
NCT04915482	PHASE2/PHASE3	UNKNOWN	TPO-RAs Combined With Anti-CD20 Antibody in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
NCT06574581	PHASE1/PHASE2	RECRUITING	ADSCs Therapy in Patients With CTD-ILD
NCT00001330	Not specified	COMPLETED	Study of Silicone-Associated Connective Tissue Diseases
NCT00001641	Not specified	COMPLETED	Study of Heritable Connective Tissue Disorders
NCT00001978	Not specified	TERMINATED	Determination of Kidney Function
NCT00076830	Not specified	COMPLETED	Evaluation and Treatment of Patients With Connective Tissue Disease
NCT00341679	Not specified	COMPLETED	Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases
NCT00470327	Not specified	RECRUITING	A Study of the Natural Progression of Interstitial Lung Disease (ILD)
NCT00491309	Not specified	UNKNOWN	Exercise and Respiratory Therapy in Patients With Rheumatoid Arthritis / Collagenosis and Pulmonary Hypertension