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LMNB2

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Summary

LMNB2 (lamin B2, HGNC:6638) is a protein-coding gene on chromosome 19p13.3, encoding Lamin-B2 (Q03252). Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane.

This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy.

Source: NCBI Gene 84823 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): progressive myoclonic epilepsy type 9 (Strong, GenCC) — +4 more curated relationships
  • Clinical variants (ClinVar): 705 total — 4 pathogenic (top 5% of genes corpus-wide)
  • GTEx eGene: eQTL in 8 tissues, sQTL in 3 (q < 0.05)
  • Phenotypes (HPO): 66
  • Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.40 (moderately constrained)
  • MANE Select transcript: NM_032737
  • Interaction hub: 2,338 STRING partners (top 5% of genes corpus-wide)

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:6638
Approved symbolLMNB2
Namelamin B2
Location19p13.3
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000176619
Ensembl biotypeprotein_coding
OMIM150341
Entrez84823

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 11 protein_coding, 4 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000325327

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 3: 2, TSL 5: 2

ENST00000325327, ENST00000475819, ENST00000490554, ENST00000527409, ENST00000532465, ENST00000534495, ENST00000867388, ENST00000867389, ENST00000917221, ENST00000917222, ENST00000917223, ENST00000917224, ENST00000917225, ENST00000917226, ENST00001007961, ENST00001034820, ENST00001034821, ENST00001073484, ENST00001073485, ENST00001142321

RefSeq mRNA: 1 — MANE Select: NM_032737 NM_032737

CCDS: CCDS12090

Canonical transcript exons

ENST00000325327 — 12 exons

ExonStartEnd
ENSE0000065567224381632438288
ENSE0000105220824444042444540
ENSE0000115016024383752438531
ENSE0000115017224566702456959
ENSE0000124770724281662430952
ENSE0000346645324315482431658
ENSE0000348951624342952434515
ENSE0000349728424324162432523
ENSE0000353963124347882434913
ENSE0000356302124350012435171
ENSE0000358896924338262434105
ENSE0000359466524317832431902

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 97.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.0023 / max 234.9255, expressed in 1815 samples.

Highest expression (Bgee): ventricular zone, testis, ganglionic eminence, endometrium epithelium, embryo.

Genetic regulation across tissues (GTEx eQTL / sQTL)

LMNB2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 8 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

11 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Testissqtl3.0e-07+0.4719:2437078:A:G
Muscle Skeletaleqtl9.9e-05-0.1819:2419362:C:A
Colon Sigmoideqtl2.1e-03+0.5219:1892953:C:G
Thyroideqtl1.2e-02+0.3019:2975764:G:A
Esophagus Musculariseqtl1.7e-02+0.3219:3220865:A:AC
Adipose Subcutaneouseqtl1.9e-02-0.2419:3143566:C:T
Brain Hypothalamussqtl2.8e-02+0.4719:1667051:G:C
Nerve Tibialeqtl3.4e-02+0.3219:3220865:A:AC
Cells EBV-transformed lymphocytessqtl4.0e-02-1.5319:2427943:G:T
Testiseqtl4.4e-02-0.1019:2419251:T:C
Skin Sun Exposed Lower legeqtl4.5e-02+0.2119:1567044:C:T

FANTOM5 promoters

4 alternative TSS:

Promoter IDTPM avgSamples expressed
17817235.35431814
1781711.4369857
1781690.191672
1781700.01953

Top tissues by expression

showing 100 of 285 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
ventricular zoneUBERON:000305397.24gold quality
left testisUBERON:000453395.73gold quality
right testisUBERON:000453495.62gold quality
ganglionic eminenceUBERON:000402394.82gold quality
endometrium epitheliumUBERON:000481194.78gold quality
embryoUBERON:000092294.43gold quality
secondary oocyteCL:000065593.89gold quality
stromal cell of endometriumCL:000225593.22gold quality
testisUBERON:000047392.33gold quality
mucosa of transverse colonUBERON:000499190.95gold quality
esophagus mucosaUBERON:000246990.17gold quality
lower esophagus mucosaUBERON:003583490.13gold quality
hindlimb stylopod muscleUBERON:000425289.53gold quality
gastrocnemiusUBERON:000138889.34gold quality
apex of heartUBERON:000209888.84gold quality
muscle of legUBERON:000138388.70gold quality
gingival epitheliumUBERON:000194988.10silver quality
oocyteCL:000002387.81gold quality
cortical plateUBERON:000534387.76gold quality
right hemisphere of cerebellumUBERON:001489087.41gold quality
cerebellar hemisphereUBERON:000224586.82gold quality
esophagus squamous epitheliumUBERON:000692086.79gold quality
cerebellar cortexUBERON:000212986.76gold quality
epithelium of esophagusUBERON:000197686.34gold quality
left adrenal glandUBERON:000123486.25gold quality
right adrenal glandUBERON:000123386.09gold quality
left adrenal gland cortexUBERON:003582585.98gold quality
right atrium auricular regionUBERON:000663185.78gold quality
adenohypophysisUBERON:000219685.71gold quality
esophagusUBERON:000104385.68gold quality
cerebellumUBERON:000203785.55gold quality
gingivaUBERON:000182885.52silver quality
right adrenal gland cortexUBERON:003582785.44gold quality
heart left ventricleUBERON:000208485.23gold quality
transverse colonUBERON:000115785.08gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099184.94gold quality
vermiform appendixUBERON:000115484.60gold quality
cardiac ventricleUBERON:000208284.60gold quality
granulocyteCL:000009484.45gold quality
adrenal cortexUBERON:000123584.29gold quality
body of stomachUBERON:000116184.08gold quality
adrenal glandUBERON:000236984.02gold quality
cardiac atriumUBERON:000208183.94gold quality
metanephros cortexUBERON:001053383.87gold quality
rectumUBERON:000105283.80gold quality
right lobe of thyroid glandUBERON:000111983.74gold quality
pituitary glandUBERON:000000783.54gold quality
squamous epitheliumUBERON:000691483.50gold quality
paraflocculusUBERON:000535183.33gold quality
sural nerveUBERON:001548883.17gold quality
monocyteCL:000057683.14gold quality
heartUBERON:000094883.12gold quality
ectocervixUBERON:001224983.06gold quality
mononuclear cellCL:000084283.04gold quality
right ovaryUBERON:000211883.04gold quality
leukocyteCL:000073882.98gold quality
left lobe of thyroid glandUBERON:000112082.95gold quality
stomachUBERON:000094582.82gold quality
muscle organUBERON:000163082.76gold quality
left uterine tubeUBERON:000130382.75gold quality
small intestine Peyer’s patchUBERON:000345482.74gold quality
left ovaryUBERON:000211982.71gold quality
upper lobe of left lungUBERON:000895282.63gold quality
adrenal tissueUBERON:001830382.48gold quality
placentaUBERON:000198782.38gold quality
right frontal lobeUBERON:000281082.36gold quality
ileal mucosaUBERON:000033182.32silver quality
colonUBERON:000115582.12gold quality
spleenUBERON:000210682.11gold quality
small intestineUBERON:000210881.94gold quality
large intestineUBERON:000005981.85gold quality
body of uterusUBERON:000985381.85gold quality
intestineUBERON:000016081.84gold quality
minor salivary glandUBERON:000183081.72gold quality
cartilage tissueUBERON:000241881.70silver quality
upper lobe of lungUBERON:000894881.64gold quality
caecumUBERON:000115381.62gold quality
prefrontal cortexUBERON:000045181.59gold quality
skin of abdomenUBERON:000141681.53gold quality
mouth mucosaUBERON:000372981.53gold quality
thyroid glandUBERON:000204681.29gold quality
skin of legUBERON:000151181.22gold quality
cingulate cortexUBERON:000302781.18gold quality
lymph nodeUBERON:000002981.13gold quality
lower esophagusUBERON:001347381.07gold quality
lower esophagus muscularis layerUBERON:003583381.02gold quality
anterior cingulate cortexUBERON:000983580.98gold quality
omental fat padUBERON:001041480.96gold quality
right lobe of liverUBERON:000111480.95gold quality
peritoneumUBERON:000235880.92gold quality
left coronary arteryUBERON:000162680.90gold quality
esophagogastric junction muscularis propriaUBERON:003584180.84gold quality
ovaryUBERON:000099280.81gold quality
vaginaUBERON:000099680.68gold quality
islet of LangerhansUBERON:000000680.67gold quality
muscle layer of sigmoid colonUBERON:003580580.45gold quality
C1 segment of cervical spinal cordUBERON:000646980.38gold quality
Brodmann (1909) area 9UBERON:001354080.31gold quality
amygdalaUBERON:000187680.25gold quality
smooth muscle tissueUBERON:000113580.12gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.31

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Thymustissue21.5
Bone marrowtissue16.3medium
Appendixtissue14.5low
Cerebellumtissue14.2high
Placentatissue13.8low
Locus coeruleustissue13.1
Skeletal muscletissue12.9medium
Hippocampustissue12.2high
Lymph nodetissue12.0medium
Pituitary glandtissue11.9
Vaginatissue11.9low
Small intestinetissue11.5low
Corpus callosumtissue11.1
Nucleus accumbenstissue11.0
Postcentral gyrustissue10.6
Duodenumtissue10.3low
Colontissue9.9low
Tonsiltissue9.9medium
Skin 1tissue9.6medium
Choroid plexustissue9.2
Stomach 1tissue8.9medium
Esophagustissue8.9medium
Midbraintissue8.4
Superior colliculitissue8.3
Medulla oblongatatissue8.1
Thalamustissue8.0
Hypothalamustissue7.9
Spinal cordtissue7.9
Ovarytissue7.8medium
Substantia nigratissue7.8
Spleentissue7.7medium
Ponstissue7.5
Periaqueductal graytissue7.3
Septumtissue7.2
Urinary bladdertissue7.0medium
Ventral forebraintissue7.0
Frontal cortextissue6.9
Cerebral cortextissue6.8high
Adipose tissuetissue6.8medium
Olfactory bulbtissue6.8
Somatosensory cortextissue6.8
Hippocampal formationtissue6.7
Putamentissue6.6
Caudate putamentissue6.4
Occipital cortextissue6.4
Motor cortextissue6.3
Amygdalatissue6.3
Basal gangliatissue6.1high
Entorhinal cortextissue6.0
Fallopian tubetissue6.0high
Retrosplenial cortextissue5.9
Prefrontal cortextissue5.8
Rectumtissue5.8medium
Retrosplenial and cingulate cortextissue5.7
Insular cortextissue5.7
Temporal cortextissue5.6
Salivary glandtissue5.5medium
Smooth muscletissue5.2low
Endometrium 1tissue5.0medium
Lungtissue5.0high

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Flocculonodular lobe (19.4), Cerebellar cortex (18.5), Vermis (18.5), Ventromedial nucleus (17.6), Arcuate nucleus (16.9).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting LMNB2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 72 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-656-3P100.0072.152788
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-314899.9775.066478
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-6778-3P99.9667.292693
HSA-LET-7C-3P99.9573.422862
HSA-MIR-6508-5P99.9270.672465
HSA-MIR-568099.9169.833421
HSA-MIR-449299.8768.253611
HSA-MIR-806799.8669.592260
HSA-MIR-469899.8471.414303
HSA-MIR-132199.8465.301811
HSA-MIR-4756-5P99.8464.981809
HSA-MIR-473999.8465.251832
HSA-MIR-449599.8272.083080
HSA-MIR-6756-5P99.8267.972466
HSA-MIR-313399.8170.923506
HSA-MIR-432099.7565.80793
HSA-MIR-1255A99.7468.09744
HSA-MIR-1255B-5P99.7468.16741
HSA-MIR-149-3P99.7268.223963
HSA-MIR-33A-3P99.7070.273362
HSA-MIR-6766-5P99.6867.702325
HSA-MIR-5004-5P99.6866.631294
HSA-MIR-29B-2-5P99.6768.981726
HSA-MIR-6887-3P99.6667.831778

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.399, missense Z 0.641 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000325327 splits into 3 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)Missense obs / expo/eConstrained
19:2,430,914–2,438,401609 / 630.90.97no
19:2,438,402–2,456,873145 / 228.90.63no
19:2,456,874–2,456,93335 / 23.91.47no

Literature-anchored findings (GeneRIF, showing 23)

  • analysis of protein-DNA interactions at the human lamin B2 replication origin (PMID:12902329)
  • The proteins bound in vivo at the LMNB2 replication origin were investigated along the cell cycle. (PMID:12912926)
  • This analysis reveals the modular structure of the lamin B2 origin and supports the idea that sequence elements close to the replication start site play an important role in origin activation. (PMID:15024083)
  • the distinctive ensemble of heterotypic lamin interactions in a particular cell type affects the stability of the lamin polymer (PMID:15284226)
  • the lamin B2 origin adopts a structure partly composed of intramolecular TAT triads (PMID:15611042)
  • lamin B was essential for the formation of the mitotic matrix that tethers a number of spindle assembly factors; propose that lamin B is a structural component of the spindle matrix that promotes microtubule assembly and organization in mitosis (PMID:16543417)
  • Three new rare heterozygous mutations are the first reported for LMNB2 and are the first reported among patients with acquired partial lipodystrophy. (PMID:16826530)
  • human lamin B(2) is indeed synthesized as a longer version than previously reported, because it contains these additional 20 amino acids (PMID:17070523)
  • The human DNA replication origin, located in the lamin B2 gene, interacts with the DNA topoisomerases I and II in a cell cycle-modulated manner. (PMID:17290216)
  • Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
  • These findings indicate that a lamin dimer principally has the freedom for a “combinatorial” head-to-tail association with all types of lamins, a property that might be of significant importance for the assembly of the nuclear lamina. (PMID:20004208)
  • Studies indicate that the lamin-binding proteins implicated in laminopathies include lamin B2 and nuclear envelope proteins. (PMID:21400569)
  • Mutation in LMNB2 gene is associated with partial lipodystrophy. (PMID:22768673)
  • Treating normal human fibroblasts with farnesyltransferase inhibitors causes the accumulation of unprocessed lamin B2 and lamin A and a decrease in mature lamin B1 (PMID:23475125)
  • Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform. (PMID:25477337)
  • Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. (PMID:25954030)
  • our studies strongly implicate an overarching role for Lamin B2 in the maintenance of nuclear architecture since loss of Lamin B2 relieves the spatial positional constraints required for maintaining conserved localization of aneuploid chromosome territories in the interphase nucleus. (PMID:26921073)
  • Lamin B2 promotes the malignant phenotype of non-small cell lung cancer cells by upregulating dimethylation of histone 3 lysine 9. (PMID:32416090)
  • Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. (PMID:33033404)
  • LMNB2 is a prognostic biomarker and correlated with immune infiltrates in hepatocellular carcinoma. (PMID:33211382)
  • LMNB2 promotes the progression of colorectal cancer by silencing p21 expression. (PMID:33782407)
  • Lamin B2 contributes to the proliferation of bladder cancer cells via activating the expression of cell division cycleassociated protein 3. (PMID:35775376)
  • The role of lamin B2 in human diseases. (PMID:37044185)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriolmnb2ENSDARG00000101624
mus_musculusLmnb2ENSMUSG00000062075
rattus_norvegicusLmnb2ENSRNOG00000025742

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401), KRT9 (ENSG00000171403), KRT20 (ENSG00000171431), KRT27 (ENSG00000171446), KRT2 (ENSG00000172867), KRT28 (ENSG00000173908), DES (ENSG00000175084), SYNM (ENSG00000182253), KRT76 (ENSG00000185069), KRT6B (ENSG00000185479), KRT79 (ENSG00000185640), KRT73 (ENSG00000186049), KRT5 (ENSG00000186081), KRT26 (ENSG00000186393), KRT10 (ENSG00000186395), KRT3 (ENSG00000186442), KRT16 (ENSG00000186832), KRT14 (ENSG00000186847), KRT12 (ENSG00000187242), KRT77 (ENSG00000189182)

+8 more (showing top 60).

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:96796) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 16 distinct phenotype terms.

Mouse phenotype (MP)Records
abnormal neuronal precursor proliferation2
abnormal neuronal migration2
neonatal lethality, complete penetrance2
decreased brain size1
abnormal forebrain morphology1
abnormal cerebral cortex morphology1
abnormal cerebral cortex lamination1
abnormal hippocampus layer morphology1
abnormal cerebellum morphology1
absent cerebellar foliation1
thin external granule cell layer1
respiratory failure1
increased circulating creatinine level1
abnormal cortical plate morphology1
absent Purkinje cell layer1
disorganized cerebral cortex lamination1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Sus scrofaQ3ZD6996.1%Diamond
Macaca fascicularisQ4R89989.8%Diamond
Caenorhabditis briggsaeQ5WN6081.1%Diamond
Gallus gallusP1473179.5%Diamond
Lymnaea stagnalisQ6QUW173.9%Diamond
Xenopus laevisP2191071.1%Diamond
Hypsibius exemplarisA0A125S9M665.8%Diamond
Caenorhabditis elegansQ2144340.5%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
MIR7108ncRNA102466806
TIMM13protein-coding26517
TMPRSS9protein-coding360200
GADD45Bprotein-coding4616
LINC01775ncRNA101928602
SPPL2Bprotein-coding56928
LSM7protein-coding51690

Protein

Protein identifiers

Lamin-B2 — Q03252 (reviewed: Q03252)

All UniProt accessions (1): Q03252

UniProt curated annotations — full annotation on UniProt →

Function. Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane. Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.

Subunit / interactions. Dimer. Lamin dimers then assemble into dimeric head-to-tail polymers. Ultimately, two head-to-tail polymers assemble laterally into a protofilament with a uniformly shaped rod of 3.5 nm in diameter. Interacts with TMEM43.

Subcellular location. Nucleus lamina.

Post-translational modifications. B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations. Phosphorylation plays a key role in lamin organization, subcellular localization and nuclear envelope disintegration. Phosphorylation by CDK1 at Ser-37 and Ser-407 at the onset of mitosis drives lamin disassembly and nuclear envelope breakdown.

Disease relevance. Partial acquired lipodystrophy (APLD) [MIM:608709] A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Intellectual disability in some cases. APLD is a sporadic disorder of unknown etiology. The disease is caused by variants affecting the gene represented in this entry. Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540] A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM9 is an autosomal recessive form characterized by myoclonus, tonic-clonic seizures, ataxia, and delayed psychomotor development. The disease may be caused by variants affecting the gene represented in this entry. Microcephaly 27, primary, autosomal dominant (MCPH27) [MIM:619180] A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH27 is an autosomal dominant form apparent in early childhood and associated with global developmental delay, delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Brain imaging may show enlarged ventricles or gyral abnormalities in some patients. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_116126* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001322Lamin_tail_domDomain
IPR018039IF_conservedConserved_site
IPR036415Lamin_tail_dom_sfHomologous_superfamily
IPR039008IF_rod_domDomain

Pfam: PF00038, PF00932

UniProt features (60 total): modified residue 13, region of interest 10, strand 10, sequence variant 7, cross-link 5, compositionally biased region 4, domain 2, sequence conflict 2, chain 1, propeptide 1, short sequence motif 1, lipid moiety-binding region 1, glycosylation site 1, helix 1, turn 1

Structure

Experimental structures (PDB)

2 structures by resolution:

PDBTitleMethodResolution (Å)
5BNWThe active site of O-GlcNAc transferase imposes constraints on substrate sequenceX-RAY DIFFRACTION2.4
2LLLSolution NMR structure of C-terminal globular domain of human Lamin-B2, Northeast …SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q03252-F179.820.62

Human Protein Atlas

Protein class: Predicted intracellular proteins, Plasma proteins, Disease related genes, Human disease related genes, Congenital disorders of metabolism, Other congenital disorders of metabolism, Congenital malformations, Congenital malformations of the nervous system, Epilepsy

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nuclear membrane

Antibody reliability (HPA): IH enhanced · IF supported

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 (19)

TypePositions
Phosphothreonine23, 34
Phosphoserine37, 316, 407, 420, 422, 424, 426, 497
N6-acetyllysine81
Omega-n-methylarginine433
Cysteine methyl ester617
S-farnesyl cysteine617
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2)77, 81, 195, 255, 489

Glycosylation sites (1)

TypePositions
O-linked (glcnac) threonine413

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 376 (showing top): MORF_DNMT1, MODULE_52, HORIUCHI_WTAP_TARGETS_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MORF_ESPL1, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GEORGES_CELL_CYCLE_MIR192_TARGETS, MORF_RRM1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MODULE_16, PATIL_LIVER_CANCER, PUJANA_CHEK2_PCC_NETWORK, MODULE_118, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC

GO Biological Process (6): nuclear envelope organization (GO:0006998), nuclear migration (GO:0007097), heterochromatin formation (GO:0031507), nuclear pore localization (GO:0051664), protein localization to nuclear envelope (GO:0090435), cytoskeleton organization (GO:0007010)

GO Molecular Function (3): structural constituent of cytoskeleton (GO:0005200), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): nuclear lamina (GO:0005652), intermediate filament (GO:0005882), nuclear membrane (GO:0031965), nuclear envelope (GO:0005635)

GO top-level categories

28 GO namespaces:

CategoryTerms
nucleus organization2
nuclear envelope2
nucleus2
endomembrane system organization1
membrane organization1
intracellular transport1
nucleus localization1
establishment of organelle localization1
cellular component assembly1
heterochromatin boundary formation1
negative regulation of gene expression, epigenetic1
heterochromatin organization1
protein-containing complex localization1
localization within membrane1
protein localization to nucleus1
organelle organization1
structural molecule activity1
cytoskeleton1
cytoskeleton organization1
protein binding1
binding1
nuclear periphery1
cellular anatomical structure1
intermediate filament cytoskeleton1
polymeric cytoskeletal fiber1
organelle membrane1
endomembrane system1
organelle envelope1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO termNSEvidence
nuclear membraneCCdirect assay
identical protein bindingMFphysical interaction

Protein interactions and networks

STRING

showing 15 of 2,338 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
LMNB2LBRQ14739893
LMNB2TIMM13P62206853
LMNB2SENP2Q9HC62759
LMNB2ACTBP02570725
LMNB2EMDP50402717
LMNB2GAPDHP00354684
LMNB2SENP3Q9H4L4655
LMNB2RGPD1P0C839650
LMNB2TM7SF2O76062631
LMNB2RANGAP1P46060622
LMNB2PXDNQ92626610
LMNB2PXDNLA1KZ92610
LMNB2HMOX1P09601607
LMNB2NFKBIAP25963591
LMNB2LEMD3Q9Y2U8587

IntAct

Human interaction partners of LMNB2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 33 partners by confidence:

PartnerInteraction typeMIscoreRecords
LMNB1physical association0.8504
LMNAphysical association0.8503
AMOTphysical association0.5603
AMOTL2physical association0.5603
CA8physical association0.5603
CCDC120physical association0.5603
CCDC88Bphysical association0.5603
CDC37physical association0.5603
EFHC2physical association0.5603
FHphysical association0.5603
GOLGA2physical association0.5603
LZTS1physical association0.5603
MFAP1physical association0.5603
MID2physical association0.5603
OVOL1physical association0.5603
PIBF1physical association0.5603
POU6F2physical association0.5603
PPP1R13Bphysical association0.5603
TFIP11physical association0.5603
THAP1physical association0.5603
TP53BP2physical association0.5603
TRIM27physical association0.5603
TSGA10IPphysical association0.5603
USP2physical association0.5603
WASHC3physical association0.5603
ZC2HC1Cphysical association0.5603
ZFHX3physical association0.5603
GPR101physical association0.4001
SFI1physical association0.4001
ZBTB3physical association0.4001

BioGRID (321 interactions; top human partners by supporting records): LMNB1 (Affinity Capture-Western; 15 records), LMNA (Affinity Capture-MS; 14 records), FNTB (Affinity Capture-MS; 3 records), TMPO (Proximity Label-MS; 3 records), ANLN (Affinity Capture-MS; 2 records), ARHGEF1 (Affinity Capture-MS; 2 records), BRD4 (Affinity Capture-MS; 2 records), CDC42 (Affinity Capture-MS; 2 records), CLEC4D (Affinity Capture-MS; 2 records), CLEC4E (Affinity Capture-MS; 2 records), HYPK (Affinity Capture-MS; 2 records), IFITM3 (Affinity Capture-MS; 2 records), MYC (Affinity Capture-MS; 2 records), PARK2 (Affinity Capture-MS; 2 records), PRNP (Affinity Capture-MS; 2 records)

Disease & clinical

Genetic variants

Variant evidence for LMNB2: 705 ClinVar records (4 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

ClassificationCount (floor)
Pathogenic4
Likely pathogenic0
Uncertain significance318
Likely benign282
Benign50

Top pathogenic / likely-pathogenic (4)

Showing all 4 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant IDHGVSClassificationReviewSubmitters
997434NM_032737.4(LMNB2):c.1192G>A (p.Glu398Lys)Pathogeniccriteria provided, multiple submitters, no conflicts4
3366973NM_032737.4(LMNB2):c.578_579del (p.Val193fs)Pathogeniccriteria provided, single submitter1
208980NM_032737.4(LMNB2):c.469C>T (p.His157Tyr)Pathogenicno assertion criteria provided1
997435NM_032737.4(LMNB2):c.160A>C (p.Asn54His)Pathogenicno assertion criteria provided1

Per-variant reference — Sugi Variant

Explore LMNB2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 35 predictions of 742):

Position(s)EffectΔscoreSites
19:2431546–2431547donor_loss1.00004
19:2431659–2431660acceptor_loss1.00005
19:2432414–2432415donor_loss1.00005
19:2432524–2432525acceptor_loss1.00003
19:2433817donor_gain1.0000
19:2434106–2434107acceptor_loss1.00004
19:2434293–2434294donor_loss1.00005
19:2434298donor_gain1.0000
19:2434516–2434517acceptor_loss1.00006
19:2434520acceptor_gain1.0000

AlphaMissense

1,018 missense substitutions predicted likely pathogenic (of 4,026 scored), across 345 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
N5480.9840.998
N49080.9570.993
D38580.9470.973
D10880.9420.977
N21080.9290.982
F51780.9170.997
F22180.9110.981
N7180.9030.960
D37980.8180.906
D20780.7870.881
E38770.9900.996
W55470.9810.997
R40170.9560.990
E39870.9480.985
E4670.9460.987
I6170.9310.997
D5570.9260.946
E39970.9230.973
W50170.9060.990
W54870.8920.986

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

4 prognostic cancer types:

CancerPrognosticp-value
Lung Adenocarcinoma (TCGA)unfavorable5.89e-06
Liver Hepatocellular Carcinoma (TCGA)unfavorable0.000174
Prostate Adenocarcinoma (TCGA)unfavorable0.000208
Liver Hepatocellular Carcinoma (validation)unfavorable0.000394

Disease associations

OMIM: gene MIM:150341 | disease phenotypes: MIM:616540, MIM:619180

GenCC curated gene-disease

5 curated gene-disease records:

DiseaseClassificationInheritanceRecords
progressive myoclonic epilepsy type 9StrongAutosomal recessive4
microcephaly 27, primary, autosomal dominantStrongAutosomal dominant4
microcephalyModerateAutosomal dominant
central nervous system malformationLimitedAutosomal recessive
lipodystrophy, partial, acquired, susceptibility toLimitedAutosomal dominant3

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (7 panels, 3 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

7 panels:

PanelRating
DDG2Pgreen
Fetal anomaliesgreen
Severe microcephalygreen
Hypotonic infantamber
Intellectual disabilityamber
Leukodystrophy, childhood onsetamber
Paediatric disordersamber

Mondo (5): progressive myoclonic epilepsy type 9 (MONDO:0014685), microcephaly 27, primary, autosomal dominant (MONDO:0030929), central nervous system malformation (MONDO:0020022), lipodystrophy, partial, acquired, susceptibility to (MONDO:0100476), microcephaly (MONDO:0001149)

Orphanet (1): Progressive myoclonic epilepsy type 9 (Orphanet:457265)

HPO phenotypes

showing 60 of 66 phenotypes (HPO-id order):

HPOTerm
HP:0000006Autosomal dominant inheritance
HP:0000007Autosomal recessive inheritance
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0000147Polycystic ovaries
HP:0000171Microglossia
HP:0000243Trigonocephaly
HP:0000365Hearing impairment
HP:0000750Delayed speech and language development
HP:0000790Hematuria
HP:0000793Membranoproliferative glomerulonephritis
HP:0000819Diabetes mellitus
HP:0000855Insulin resistance
HP:0001007Hirsutism
HP:0001182Tapered finger
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001336Myoclonus
HP:0001382Joint hypermobility
HP:0001397Hepatic steatosis
HP:0001840Metatarsus adductus
HP:0002066Gait ataxia
HP:0002069Bilateral tonic-clonic seizure
HP:0002119Ventriculomegaly
HP:0002123Generalized myoclonic seizure
HP:0002133Status epilepticus
HP:0002230Generalized hirsutism
HP:0002307Drooling
HP:0002359Frequent falls
HP:0002650Scoliosis
HP:0002719Recurrent infections
HP:0002721Immunodeficiency
HP:0002829Arthralgia
HP:0002907Microscopic hematuria
HP:0002960Autoimmunity
HP:0003119Abnormal circulating lipid concentration
HP:0003198Myopathy
HP:0003577Congenital onset
HP:0003621Juvenile onset
HP:0003676Progressive
HP:0003700Generalized amyotrophy
HP:0003745Sporadic
HP:0004209Clinodactyly of the 5th finger
HP:0005328Progeroid facial appearance
HP:0005421Decreased circulating complement C3 concentration
HP:0009002Loss of truncal subcutaneous adipose tissue
HP:0009019Progressive loss of facial adipose tissue
HP:0009056Loss of subcutaneous adipose tissue from upper limbs
HP:0009381Short finger
HP:0009778Short thumb
HP:0009879Simplified gyral pattern
HP:0011451Primary microcephaly
HP:0011463Childhood onset
HP:0012450Chronic constipation
HP:0012510Extra-axial cerebrospinal fluid accumulation
HP:0030043Hip subluxation

MeSH disease descriptors

2 disease descriptors:

DescriptorNameTree numbers
D008831MicrocephalyC05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009421Nervous System MalformationsC10.500; C16.131.666

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5465302 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (2 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValue
CHEMBL5653589KD1440 nM

ChEMBL bioactivities

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

pChemblTypeValueUnitMolecule
5.79Kd1629nMCHEMBL5653589
5.79ED501629nMCHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 5 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.

CompoundAssayTypeValueUnit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide2148657: Binding affinity to human LMNB2 incubated for 45 mins by Kinobead based pull down assaykd1.6292uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, increases expression5
bisphenol Aaffects expression, decreases expression, increases expression, affects cotreatment4
Benzo(a)pyreneaffects methylation, increases expression, increases mutagenesis3
cobaltous chloridedecreases expression2
Copperaffects binding, decreases expression2
Tamoxifenaffects expression, affects cotreatment, decreases expression2
Valproic Acidaffects expression, increases methylation2
Cyclosporinedecreases expression, decreases methylation2
Raloxifene Hydrochlorideaffects expression, affects cotreatment, decreases expression2
afuresertibdecreases expression1
FR900359affects phosphorylation1
bisphenol Fincreases expression1
2,4,6-tribromophenoldecreases expression1
methylmercuric chlorideincreases expression1
triphenyl phosphateaffects expression1
methylselenic aciddecreases expression1
pyrogallol 1,3-dimethyl etheraffects cotreatment, affects localization, increases expression1
decabromobiphenyl etherincreases expression1
methylparabenincreases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
tetrabromobisphenol Adecreases expression1
zinc chromateincreases abundance, decreases expression1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, increases expression1
coumarindecreases phosphorylation1
cupric oxidedecreases expression1
flavonedecreases expression1
di-n-butylphosphoric acidaffects expression1
chromium hexavalent iondecreases expression, increases abundance1
perfluorooctane sulfonic aciddecreases expression1
perfluoro-n-nonanoic aciddecreases expression1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5338472BindingBinding affinity to Lmnb2 (unknown origin) assessed as fold change in protein upregulation at 200 uM preincubated for 2 hrs followed by pronase addition and measured after 30 mins by coomassie blue staining based SDS-PAGE gel analysisStructurally Diverse Alkaloids with Anti-Renal-Fibrosis Activity from the Centipede Scolopendra subspinipes mutilans. — *J Nat Prod*

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

CellosaurusNameCategorySex
CVCL_SV69HAP1 LMNB2 (-) 1Cancer cell lineMale
CVCL_XQ20HAP1 LMNB2 (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 211 trials:

NCTPhaseStatusTitle
NCT04586348Phase 4UNKNOWNPrenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115Phase 4UNKNOWNDouble-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102Phase 3COMPLETEDDexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079Phase 3COMPLETEDStudy of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480Phase 3RECRUITINGReducing Missed Appointments
NCT07377032Phase 3RECRUITINGTAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959Phase 2COMPLETEDSulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348Phase 2RECRUITINGSertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372Phase 2COMPLETEDSafety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191Phase 1COMPLETEDNeuroModulation Technique Treatment of Autism
NCT04475848Phase 1COMPLETEDA Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398Phase 1COMPLETEDIAMA-6 Oral Dose Study in Healthy Adults
NCT06566066Not specifiedRECRUITINGRegister for Patients With Thyroid Hormone Resistance.
NCT01783041Phase 2/3COMPLETEDEffect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385Phase 2/3COMPLETEDFetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098Early Phase 1NOT_YET_RECRUITINGCentral Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783Not specifiedCOMPLETEDCYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504Not specifiedRECRUITINGStudying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784Not specifiedUNKNOWNHigh Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791Not specifiedCOMPLETEDNutrition and Pregnancy Intervention Study
NCT01942525Not specifiedUNKNOWNInfluence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170Not specifiedCOMPLETEDEtiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649Not specifiedCOMPLETEDEnhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191Not specifiedTERMINATEDBiomarkers, Neurodevelopment and Preterm Infants
NCT02690675Not specifiedCOMPLETEDIron Supplement Effect on Child Development
NCT02694003Not specifiedCOMPLETEDBetter Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894Not specifiedCOMPLETEDFamily Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674Not specifiedUNKNOWNGood Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157Not specifiedCOMPLETEDAnalyzing Retinal Microanatomy in ROP
NCT02898298Not specifiedCOMPLETEDPositive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780Not specifiedUNKNOWNIntroduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293Not specifiedCOMPLETEDn-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644Not specifiedCOMPLETEDImproving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991Not specifiedUNKNOWNEarly Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189Not specifiedTERMINATEDEffect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028Not specifiedCOMPLETEDDevelopmental Origins of Mental Health Disorders
NCT03148782Not specifiedCOMPLETEDBrain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104Not specifiedCOMPLETEDNeurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375Not specifiedRECRUITINGSQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928Not specifiedCOMPLETEDClinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489Not specifiedUNKNOWNStudy for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice
NCT03381027Not specifiedCOMPLETEDBABY SMART (Study of Massage Therapy, Sleep And neurodevelopMenT)
NCT03388294Not specifiedCOMPLETEDEvaluation of a Novel Intervention for Infants At Risk for Neurodevelopmental Disorders
NCT03410810Not specifiedUNKNOWNChildhood Outcomes of Preterm Brain Abnormalities
NCT03492060Not specifiedRECRUITINGLongitudinal Study of Neurogenetic Disorders
NCT03577756Not specifiedCOMPLETEDNeurodevelopmental Assessment of Infants With Cystic Fibrosis
NCT03654248Not specifiedCOMPLETEDLet’s Get Organized in Adult Psychiatric/habilitation Care
NCT03659279Not specifiedCOMPLETEDLet’s Get Organized Feasibility Study
NCT03722615Not specifiedCOMPLETEDEpidemiology of Congenital Cytomegalovirus in a High HIV Prevalence Setting, South Africa
NCT03770832Not specifiedACTIVE_NOT_RECRUITINGWearable Sensors and Video Recordings to Monitor Motor Development
NCT03830879Not specifiedRECRUITINGShenzhen Birth Cohort Study
NCT03835689Not specifiedCOMPLETEDStrongest FamiliesTM Neurodevelopmental
NCT03882788Not specifiedCOMPLETEDThe Effect of Anesthesia on Neurodevelopmental Outcome (NDO)
NCT03922087Not specifiedCOMPLETEDNo-worry Baby Project
NCT03977259Not specifiedACTIVE_NOT_RECRUITINGTargeting Human Milk Fortification to Improve Preterm Infant Growth and Brain Development
NCT04043572Not specifiedUNKNOWNThe Biomarkers of Neurological Disease in Utero Study
NCT04096430Not specifiedRECRUITINGEvaluation of Effectiveness of Child-oriented Goal-setting in Paediatric Rehabilitation (the ENGAGE Approach)
NCT04108273Not specifiedCOMPLETEDBrain Plasticity Underlying Acquisition of New Organizational Skills in Children
NCT04201509Not specifiedCOMPLETEDValidity of Neurocognitive Assessment Methods in Childhood ADHD
NCT04233775Not specifiedUNKNOWNAltered Cerebral Growth and Development in Infants With Congenital Heart Disease

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for LMNB2 across ~30M SureChEMBL compounds — explore on Sugi Predict.