Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4001
Gene name Gene Name - the full gene name approved by the HGNC.
Lamin B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LMNB1
Synonyms (NCBI Gene) Gene synonyms aliases
ADLD, ADLDAT, LMN, LMN2, LMNB, MCPH26
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
150340 6637 ENSG00000113368
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microcephaly microcephaly rs1751797979 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Demyelinating Leukodystrophy Adult-onset autosomal dominant demyelinating leukodystrophy N/A N/A ClinVar
Dyslexia Dyslexia N/A N/A GWAS
Leukodystrophy Leukodystrophy, Adult-Onset, adult-onset autosomal dominant demyelinating leukodystrophy N/A N/A ClinVar, GenCC
Associations from Text Mining Disease 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