LMNB2 (lamin B2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84823
Gene name Gene Name - the full gene name approved by the HGNC.
Lamin B2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LMNB2
Synonyms (NCBI Gene) Gene synonyms aliases
EPM9, LAMB2, LMN2, MCPH27
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs57521499 C>A,T Risk-factor, not-provided Coding sequence variant, missense variant
rs267607650 G>A Risk-factor, likely-benign Intron variant
rs797045143 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(614)
miRTarBase ID miRNA Experiments Reference
MIRT004852 hsa-miR-192-5p Luciferase reporter assay, qRT-PCR, Western blot 19074876
MIRT005131 hsa-miR-30a-5p pSILAC 18668040
MIRT023401 hsa-miR-122-5p Microarray 17612493
MIRT024348 hsa-miR-215-5p Microarray 19074876
MIRT004852 hsa-miR-192-5p Reporter assay;Western blot;Microarray;Other 19074876
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005200 Function Structural constituent of cytoskeleton IBA
GO:0005515 Function Protein binding IPI 24981860, 26524528, 29568061, 30021884, 32296183, 33961781, 35271311
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IEA
GO:0005652 Component Nuclear lamina IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
150341 6638 ENSG00000176619
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q03252
Protein name Lamin-B2
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:33033404). Lami
PDB 2LLL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 45 → 401 Intermediate filament protein Coiled-coil
PF00932 LTD 467 → 579 Lamin Tail Domain Domain
Sequence
Sequence length 620
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Apoptosis
Cytoskeleton in muscle cells 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Progressive Myoclonic Epilepsy progressive myoclonic epilepsy type 9 rs797045143 N/A
Show/Hide Unknown Diseases (3)
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
Acquired Partial Lipodystrophy acquired partial lipodystrophy N/A N/A ClinVar
Lipodystrophy lipodystrophy, partial, acquired, susceptibility to N/A N/A GenCC
Microcephaly Microcephaly 27, primary, autosomal dominant, microcephaly 27, primary, autosomal dominant N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 35387557
Adenocarcinoma of Lung Associate 35435126
Alzheimer Disease Associate 32155994
Ataxia Associate 25954030
Autosomal Recessive Primary Microcephaly Associate 33033404
Breast Neoplasms Associate 35381768
Carcinogenesis Associate 35387557
Carcinoma Hepatocellular Associate 33211382, 36405011
Diabetes Mellitus Type 2 Associate 35011612
Endometrial Neoplasms Associate 35682908