Gene Gene information from NCBI Gene database.
Entrez ID 4001
Gene name Lamin B1
Gene symbol LMNB1
Synonyms (NCBI Gene)
ADLDADLDATLMNLMN2LMNBMCPH26
Chromosome 5
Chromosome location 5q23.2
Summary This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript varian
miRNA miRNA information provided by mirtarbase database.
349
miRTarBase ID miRNA Experiments Reference
MIRT002510 hsa-miR-373-3p Microarray 15685193
MIRT002510 hsa-miR-373-3p Microarray;Other 15685193
MIRT022094 hsa-miR-128-3p Sequencing 20371350
MIRT002571 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002571 hsa-miR-124-3p Microarray 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0003690 Function Double-stranded DNA binding IEA
GO:0005200 Function Structural constituent of cytoskeleton IBA
GO:0005515 Function Protein binding IPI 21346760, 21988832, 25158218, 26496610, 26524528, 29568061, 29997244, 30021884, 31467278, 32296183, 32814053, 33961781, 35271311, 37398436
GO:0005634 Component Nucleus IDA 10791971
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
150340 6637 ENSG00000113368
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20700
Protein name Lamin-B1
Protein 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 (PubMed:28716252, PubMe
PDB 2KPW , 3JT0 , 3TYY , 3UMN , 5BNW , 5VVX , 7DTG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 31 387 Intermediate filament protein Coiled-coil
PF00932 LTD 435 545 Lamin Tail Domain Domain
Sequence
Sequence length 586
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Apoptosis
Cytoskeleton in muscle cells
  Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Nuclear Envelope Breakdown
Initiation of Nuclear Envelope (NE) Reformation
Breakdown of the nuclear lamina
Depolymerisation of the Nuclear Lamina
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
111
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly Pathogenic rs1751797979 RCV001252943
Microcephaly 26, primary, autosomal dominant Likely pathogenic; Pathogenic rs2479520123, rs1750497172, rs1245844735, rs935132421, rs1751587092, rs1750506249 RCV003153029
RCV001292578
RCV001292579
RCV001292576
RCV001292580
RCV001292581
Syndrome with microcephaly as major feature Pathogenic rs1750497172, rs1245844735, rs935132421, rs1751587092 RCV001254641
RCV001254642
RCV001254640
RCV001254643
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs74480742, rs6867254 RCV005916508
RCV005921612
Adult-onset autosomal dominant demyelinating leukodystrophy Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs376081850, rs74640805, rs757576125, rs34224885, rs748056618, rs765894554, rs372142905, rs867579692, rs561989552, rs886059858, rs6875053, rs755177047, rs74362780, rs886059859, rs140296800
View all (36 more)
RCV001334424
RCV002501846
RCV005397078
RCV000294151
RCV002466949
RCV005254737
RCV003333616
RCV003338060
RCV000263750
RCV000395495
RCV000356354
RCV000295130
RCV000333700
RCV000339403
RCV000259722
RCV000386736
RCV000271365
RCV000382569
RCV000346610
RCV000384885
RCV000329948
RCV000316347
RCV000373329
RCV000791125
RCV000305501
RCV000395587
RCV000369546
RCV000277393
RCV000328799
RCV003990662
RCV000298597
RCV000299258
RCV000386109
RCV000345073
RCV001155358
RCV001155359
RCV001157047
RCV001157048
RCV001157049
RCV001157050
RCV001157051
RCV001253966
RCV001154643
RCV001154644
RCV001154645
RCV001154646
RCV001155478
RCV001155479
RCV001155480
RCV001155481
RCV001253965
RCV001198634
Cervical cancer Likely benign; Conflicting classifications of pathogenicity rs182569011, rs370551700 RCV005935592
RCV005913940
Cholangiocarcinoma Benign rs6867254 RCV005921615
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32149105
Adenomatous Polyposis Coli Associate 19845967
Agenesis of Corpus Callosum Associate 32910914
Ameloblastoma Associate 25991665
Ataxia Associate 26053668
Ataxia Telangiectasia Stimulate 22246186
Autosomal Recessive Primary Microcephaly Associate 32910914, 33033404
Breast Neoplasms Associate 24293108, 32705365, 33948615, 34237080
Breast Neoplasms Stimulate 34459389
Carcinoma Hepatocellular Stimulate 30897324, 34810266, 35436411