LMNB2 lamin B2

Gene ID: 84823, updated on 27-Nov-2024
Gene type: protein coding
Also known as: EPM9; LMN2; LAMB2; MCPH27

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, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Lipodystrophy, partial, acquired, susceptibility to MedGen: C3887501OMIM: 608709GeneReviews: Not available	See labs
Microcephaly 27, primary, autosomal dominant MedGen: C5543051OMIM: 619180GeneReviews: Not available	See labs
Progressive myoclonic epilepsy type 9 MedGen: C4225289OMIM: 616540GeneReviews: Not available	See labs

Genomic context

Location:: 19p13.3

Sequence:: Chromosome: 19; NC_000019.10 (2428166..2456959, complement)

Total number of exons:: 12

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for LMNB2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
Human Intermediate Filament Database LMNB2
LMNB2 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.