LMNB2 lamin B2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LMNB2provided by HGNC
Official Full Name: lamin B2provided by HGNC
Primary source: HGNC:HGNC:6638
See related: Ensembl:ENSG00000176619 MIM:150341; AllianceGenome:HGNC:6638
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Ubiquitous expression in placenta (RPKM 13.1), colon (RPKM 11.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (2428166..2456959, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (2403957..2432750, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (2428164..2456957, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of lamin B2 in human diseases.
Title: The role of lamin B2 in human diseases.
Lamin B2 contributes to the proliferation of bladder cancer cells via activating the expression of cell division cycleassociated protein 3.
Title: Lamin B2 contributes to the proliferation of bladder cancer cells via activating the expression of cell division cycle‑associated protein 3.
LMNB2 is a prognostic biomarker and correlated with immune infiltrates in hepatocellular carcinoma.
Title: LMNB2 is a prognostic biomarker and correlated with immune infiltrates in hepatocellular carcinoma.
LMNB2 promotes the progression of colorectal cancer by silencing p21 expression.
Title: LMNB2 promotes the progression of colorectal cancer by silencing p21 expression.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Title: Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Lamin B2 promotes the malignant phenotype of non-small cell lung cancer cells by upregulating dimethylation of histone 3 lysine 9.
Title: Lamin B2 promotes the malignant phenotype of non-small cell lung cancer cells by upregulating dimethylation of histone 3 lysine 9.
our studies strongly implicate an overarching role for Lamin B2 in the maintenance of nuclear architecture since loss of Lamin B2 relieves the spatial positional constraints required for maintaining conserved localization of aneuploid chromosome territories in the interphase nucleus.
Title: Chromosomal aneuploidies induced upon Lamin B2 depletion are mislocalized in the interphase nucleus.
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
Title: Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform.
Title: Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform.
Treating normal human fibroblasts with farnesyltransferase inhibitors causes the accumulation of unprocessed lamin B2 and lamin A and a decrease in mature lamin B1
Title: Disruption of lamin B1 and lamin B2 processing and localization by farnesyltransferase inhibitors.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lipodystrophy, partial, acquired, susceptibility to MedGen: C3887501 OMIM: 608709 GeneReviews: Not available	Compare labs
Microcephaly 27, primary, autosomal dominant MedGen: C5543051 OMIM: 619180 GeneReviews: Not available	Compare labs
Progressive myoclonic epilepsy type 9 MedGen: C4225289 OMIM: 616540 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Purified HIV-1 Tat has been shown to bind with high affinity to the nuclear matrix from H9 cells and to link viral RNAs to the nuclear matrix	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin B2 (LMNB2) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed
	vpr	HIV-1 Vpr co-localizes with lamin B and induces localized disruptions in the normal nuclear lamin architecture, contributing to the formation of nuclear envelope herniations	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S839 (e-PCR)
- UniSTS:81940

PMC291826P2 (e-PCR)
- UniSTS:272434

RH80287 (e-PCR)
- UniSTS:86433

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear envelope organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear pore localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in intermediate filament	IEA Inferred from Electronic Annotation more info
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nuclear lamina	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: lamin-B2

Names: epididymis secretory sperm binding protein; lamin B3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.