LMNB2 (lamin B2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84823
Gene name Lamin B2
Gene symbol LMNB2
Synonyms (NCBI Gene)
EPM9LAMB2LMN2MCPH27
Chromosome 19
Chromosome location 19p13.3
Summary 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.
3
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.
614
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 assayqRT-PCRWestern 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
150341 6638 ENSG00000176619
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 		 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
LMNB2-related disorder Pathogenic rs1971791380 RCV003393957
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 27, primary, autosomal dominant Pathogenic rs1971791380, rs1972096108 RCV001292582
RCV001292583
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive myoclonic epilepsy type 9 Pathogenic rs797045143 RCV000190899
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (16)
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
Acquired partial lipodystrophy Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM MALFORMATION — GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC, 9 — HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Generalized myoclonic seizure Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (174)
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 16826530, 17467691, 22768673
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acquired partial lipodystrophy Acquired Partial Lipodystrophy ORPHANET_DG 16826530
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acquired partial lipodystrophy Acquired Partial Lipodystrophy Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acquired partial lipodystrophy Acquired Partial Lipodystrophy CTD_human_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acquired partial lipodystrophy Acquired Partial Lipodystrophy CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Action Myoclonus-Renal Failure Syndrome Action Myoclonus-Renal Failure Syndrome CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 17374881
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30082847
★★★★★
★☆☆☆☆
Found in Text Mining only
Alport Syndrome, Autosomal Recessive Alport Syndrome BEFREE 29263159
★★★★★
★☆☆☆☆
Found in Text Mining only
Alport Syndrome, X-Linked Alport Syndrome, X-Linked BEFREE 29263159
★★★★★
★☆☆☆☆
Found in Text Mining only