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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Microcephaly Pathogenic rs1751797979 RCV001252943
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 26, primary, autosomal dominant Likely pathogenic; Pathogenic rs2479520123, rs1750497172, rs1245844735, rs935132421, rs1751587092, rs1750506249 RCV003153029
RCV001292578
RCV001292579
RCV001292576
RCV001292580
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndrome with microcephaly as major feature Pathogenic rs1750497172, rs1245844735, rs935132421, rs1751587092 RCV001254641
RCV001254642
RCV001254640
RCV001254643
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adult-onset autosomal dominant demyelinating leukodystrophy Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired partial lipodystrophy Acquired Partial Lipodystrophy BEFREE 17467691
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 31635050
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adult onset autosomal dominant leukodystrophy Leukodystrophy BEFREE 19287139, 23681646, 25532872, 28769756, 31695592
★☆☆☆☆
Found in Text Mining only
Adult onset autosomal dominant leukodystrophy Leukodystrophy ORPHANET_DG 23649844
★☆☆☆☆
Found in Text Mining only
Adult Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher Disease CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Adult-onset autosomal dominant leukodystrophy Leukodystrophy Orphanet
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 32910914 Associate
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma Pubtator 25991665 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 22119712
★☆☆☆☆
Found in Text Mining only