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lamin B2

Summary

Gene Symbol

LMNB2

Organism

Homo sapiens (human)

External Links

NCBI Gene

84823

PubChem

84823

Alliance of Genome Resources

HGNC:6638

Annotation

Keyword

3D-structure
Acetylation
Coiled coil
Direct protein sequencing
Disease variant
Epilepsy
Glycoprotein
Intellectual disability
Intermediate filament
Isopeptide bond
Methylation
Neurodegeneration
Nucleus
Phosphoprotein
Prenylation
Primary microcephaly
Reference proteome
Ubl conjugation

Proteins

Displaying 1 entry
UniProt	Protein Name
Q03252

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
biological_process	ND
heterochromatin formation	IBA
nuclear migration	IBA
protein localization to nuclear envelope	IBA
nuclear pore localization	IBA

GO Hierarchy

biological process

cellular process [inference]

cellular localization [inference]

intracellular transport [inference]

nuclear migration

localization within membrane [inference]

nuclear pore localization

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to nucleus [inference]

protein localization to nuclear envelope

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

nucleus organization [inference]

nuclear pore localization

cytoskeleton organization

protein-containing complex organization [inference]

protein-DNA complex organization [inference]

chromatin organization [inference]

chromatin remodeling [inference]

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

heterochromatin organization [inference]

heterochromatin formation

membrane organization [inference]

nuclear envelope organization

localization [inference]

protein-containing complex localization [inference]

nuclear pore localization

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to nucleus [inference]

protein localization to nuclear envelope

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

nuclear migration

establishment of localization in cell [inference]

intracellular transport [inference]

nuclear migration

establishment of organelle localization [inference]

nuclear migration

organelle localization [inference]

nucleus localization [inference]

nuclear migration

establishment of organelle localization [inference]

nuclear migration

cellular localization [inference]

intracellular transport [inference]

nuclear migration

localization within membrane [inference]

nuclear pore localization

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to nucleus [inference]

protein localization to nuclear envelope

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

Displaying **all 4** entries
GO Term	Evidence Code	PMID
nuclear membrane	IDA
nuclear lamina	IBA
nuclear envelope	IBA
intermediate filament	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

nuclear lamina

membrane [inference]

organelle membrane [inference]

nuclear membrane

envelope [inference]

organelle envelope [inference]

nuclear envelope

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

intermediate filament

Displaying **all 4** entries
GO Term	Evidence Code	PMID
protein binding	IPI	24981860 26524528 29568061 30021884 32296183 33961781 35271311
identical protein binding	IPI	32296183
structural constituent of cytoskeleton	IBA
molecular_function	ND

GO Hierarchy

molecular function

structural molecule activity [inference]

structural constituent of cytoskeleton

binding [inference]

protein binding

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Lamin

Functional Category

E: Amino acid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
nuclear envelope organization
protein localization to nuclear envelope
structural constituent of cytoskeleton

Displaying **all 4** entries
InterPro
Intermediate filament protein, conserved site
Intermediate filament, rod domain
Lamin tail domain superfamily
Lamin tail domain

Disease

Disease Ontology

Displaying entries **1 - 10** of 13 in total

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DO ID	Disease Name	Source
DOID:0050557	congenital muscular dystrophy	Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2	Alliance of Genome Resources
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly	Alliance of Genome Resources
DOID:0080299	partial lipodystrophy	Alliance of Genome Resources
DOID:0110425	dilated cardiomyopathy 1A	Alliance of Genome Resources
DOID:0110640	congenital muscular dystrophy due to LMNA mutation	Alliance of Genome Resources
DOID:0111450	progressive myoclonus epilepsy 9	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 71 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	16907		MGI:96796	MOUSE02862
Danio rerio	30196		ZFIN:ZDB-GENE-990630-13	DANRE22700
Drosophila melanogaster	33782		FB:FBgn0002525
Drosophila melanogaster	36615		FB:FBgn0010397
Caenorhabditis elegans	172687		WB:WBGene00003052
Caenorhabditis elegans	173973		WB:WBGene00002054
Caenorhabditis elegans	173976		WB:WBGene00002053
Rattus norvegicus	299625		RGD:1563803	RATNO37996
Xenopus laevis	394291		Xenbase:XB-GENE-6254662
Xenopus laevis	397912		Xenbase:XB-GENE-865968

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.1.0

Last updated: December 9, 2024