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Entry version 194 (13 Feb 2019)
Sequence version 4 (11 Nov 2015)
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Protein

Lamin-B2

Gene

LMNB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.

Miscellaneous

The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lamin-B2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LMNB2
Synonyms:LMN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000176619.10

Human Gene Nomenclature Database

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HGNCi
HGNC:6638 LMNB2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
150341 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q03252

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Intermediate filament, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Partial acquired lipodystrophy (APLD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Mental retardation in some cases. APLD is a sporadic disorder of unknown etiology.
See also OMIM:608709
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_074171252Y → H in APLD. 1 Publication1
Natural variantiVAR_031064427A → T in APLD. 1 PublicationCorresponds to variant dbSNP:rs57521499EnsemblClinVar.1
Epilepsy, progressive myoclonic 9 (EPM9)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of progressive myoclonic epilepsy, a rare disease initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. EPM9 features include myoclonus, tonic-clonic seizures, ataxia, and psychomotor development.
See also OMIM:616540
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074170157H → Y in EPM9; disrupts fibrillar formation. 1 PublicationCorresponds to variant dbSNP:rs797045143EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
84823

MalaCards human disease database

More...
MalaCardsi
LMNB2
MIMi608709 phenotype
616540 phenotype

Open Targets

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OpenTargetsi
ENSG00000176619

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
79087 Acquired partial lipodystrophy
457265 Progressive myoclonic epilepsy type 9

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30404

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LMNB2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23503078

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000638201 – 617Lamin-B2Add BLAST617
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000403470618 – 620Removed in mature formBy similarity3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei23PhosphothreonineCombined sources1
Modified residuei34PhosphothreonineCombined sources1
Modified residuei37PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki77Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei81N6-acetyllysine; alternateCombined sources1
Cross-linki81Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki195Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki255Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei316PhosphoserineCombined sources1
Modified residuei420PhosphoserineCombined sources1
Modified residuei422PhosphoserineCombined sources1
Modified residuei424PhosphoserineCombined sources1
Modified residuei426PhosphoserineCombined sources1
Modified residuei433Omega-N-methylarginineBy similarity1
Cross-linki489Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei497PhosphoserineCombined sources1
Modified residuei617Cysteine methyl esterBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi617S-farnesyl cysteineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.

Keywords - PTMi

Acetylation, Isopeptide bond, Lipoprotein, Methylation, Phosphoprotein, Prenylation, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q03252

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q03252

MaxQB - The MaxQuant DataBase

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MaxQBi
Q03252

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q03252

PeptideAtlas

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PeptideAtlasi
Q03252

PRoteomics IDEntifications database

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PRIDEi
Q03252

ProteomicsDB human proteome resource

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ProteomicsDBi
58204

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00009771

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q03252

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q03252

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q03252

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000176619 Expressed in 148 organ(s), highest expression level in testis

Organism-specific databases

Human Protein Atlas

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HPAi
CAB022593
HPA047863
HPA062477

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TMEM43.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124281, 53 interactors

Database of interacting proteins

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DIPi
DIP-57724N

Protein interaction database and analysis system

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IntActi
Q03252, 49 interactors

Molecular INTeraction database

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MINTi
Q03252

STRING: functional protein association networks

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STRINGi
9606.ENSP00000462730

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1620
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LLLNMR-A469-589[»]
5BNWX-ray2.40D403-415[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q03252

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q03252

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini46 – 402IF rodPROSITE-ProRule annotationAdd BLAST357
Domaini462 – 579LTDPROSITE-ProRule annotationAdd BLAST118

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 48HeadAdd BLAST48
Regioni49 – 83Coil 1AAdd BLAST35
Regioni84 – 95Linker 1Add BLAST12
Regioni96 – 229Coil 1BAdd BLAST134
Regioni230 – 256Linker 2Add BLAST27
Regioni257 – 400Coil 2Add BLAST144
Regioni401 – 620TailAdd BLAST220

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi435 – 440Nuclear localization signalSequence analysis6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi590 – 602Asp/Glu-rich (highly acidic; could be involved in chromatin binding)Add BLAST13

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0977 Eukaryota
ENOG410Y2H6 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160274

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007711

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG013015

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q03252

KEGG Orthology (KO)

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KOi
K07611

Identification of Orthologs from Complete Genome Data

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OMAi
EEIAYKF

Database of Orthologous Groups

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OrthoDBi
223749at2759

TreeFam database of animal gene trees

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TreeFami
TF101181

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.1260, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR001322 Lamin_tail_dom
IPR036415 Lamin_tail_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR23239 PTHR23239, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00038 Filament, 1 hit
PF00932 LTD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01391 Filament, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF74853 SSF74853, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit
PS51841 LTD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

Q03252-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSPPSPGRRR EQRRPRAAAT MATPLPGRAG GPATPLSPTR LSRLQEKEEL
60 70 80 90 100
RELNDRLAHY IDRVRALELE NDRLLLKISE KEEVTTREVS GIKALYESEL
110 120 130 140 150
ADARRVLDET ARERARLQIE IGKLRAELDE VNKSAKKREG ELTVAQGRVK
160 170 180 190 200
DLESLFHRSE VELAAALSDK RGLESDVAEL RAQLAKAEDG HAVAKKQLEK
210 220 230 240 250
ETLMRVDLEN RCQSLQEELD FRKSVFEEEV RETRRRHERR LVEVDSSRQQ
260 270 280 290 300
EYDFKMAQAL EELRSQHDEQ VRLYKLELEQ TYQAKLDSAK LSSDQNDKAA
310 320 330 340 350
SAAREELKEA RMRLESLSYQ LSGLQKQASA AEDRIRELEE AMAGERDKFR
360 370 380 390 400
KMLDAKEQEM TEMRDVMQQQ LAEYQELLDV KLALDMEINA YRKLLEGEEE
410 420 430 440 450
RLKLSPSPSS RVTVSRATSS SSGSLSATGR LGRSKRKRLE VEEPLGSGPS
460 470 480 490 500
VLGTGTGGSG GFHLAQQASA SGSVSIEEID LEGKFVQLKN NSDKDQSLGN
510 520 530 540 550
WRIKRQVLEG EEIAYKFTPK YILRAGQMVT VWAAGAGVAH SPPSTLVWKG
560 570 580 590 600
QSSWGTGESF RTVLVNADGE EVAMRTVKKS SVMRENENGE EEEEEAEFGE
610 620
EDLFHQQGDP RTTSRGCYVM
Length:620
Mass (Da):69,948
Last modified:November 11, 2015 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA8799BB12B6242B9
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH06551 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti401R → S in AAA80979 (PubMed:1630457).Curated1
Sequence conflicti439 – 475LEVEE…SGSVS → WRWRSPWQRPKRPGHGHGWQ RWLPPGPAGLGLGQRH in AAA80979 (PubMed:1630457).CuratedAdd BLAST37

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074170157H → Y in EPM9; disrupts fibrillar formation. 1 PublicationCorresponds to variant dbSNP:rs797045143EnsemblClinVar.1
Natural variantiVAR_031063235R → Q Polymorphism; may be a risk factor for partial aquired lipodystrophy. 2 PublicationsCorresponds to variant dbSNP:rs121912497EnsemblClinVar.1
Natural variantiVAR_036370236R → W in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs774297966Ensembl.1
Natural variantiVAR_074171252Y → H in APLD. 1 Publication1
Natural variantiVAR_031064427A → T in APLD. 1 PublicationCorresponds to variant dbSNP:rs57521499EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
BT007441 mRNA Translation: AAP36109.1
AC011522 Genomic DNA No translation available.
AC005624 Genomic DNA Translation: AAC34573.1
BC006551 mRNA Translation: AAH06551.1 Different initiation.
M94362 mRNA Translation: AAA80979.1
M94363 Genomic DNA Translation: AAB00873.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS12090.2

NCBI Reference Sequences

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RefSeqi
NP_116126.3, NM_032737.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.538286

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000325327; ENSP00000327054; ENSG00000176619

Database of genes from NCBI RefSeq genomes

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GeneIDi
84823

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84823

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BT007441 mRNA Translation: AAP36109.1
AC011522 Genomic DNA No translation available.
AC005624 Genomic DNA Translation: AAC34573.1
BC006551 mRNA Translation: AAH06551.1 Different initiation.
M94362 mRNA Translation: AAA80979.1
M94363 Genomic DNA Translation: AAB00873.1 Sequence problems.
CCDSiCCDS12090.2
RefSeqiNP_116126.3, NM_032737.3
UniGeneiHs.538286

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LLLNMR-A469-589[»]
5BNWX-ray2.40D403-415[»]
ProteinModelPortaliQ03252
SMRiQ03252
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124281, 53 interactors
DIPiDIP-57724N
IntActiQ03252, 49 interactors
MINTiQ03252
STRINGi9606.ENSP00000462730

PTM databases

iPTMnetiQ03252
PhosphoSitePlusiQ03252
SwissPalmiQ03252

Polymorphism and mutation databases

BioMutaiLMNB2
DMDMi23503078

2D gel databases

REPRODUCTION-2DPAGEiIPI00009771

Proteomic databases

EPDiQ03252
jPOSTiQ03252
MaxQBiQ03252
PaxDbiQ03252
PeptideAtlasiQ03252
PRIDEiQ03252
ProteomicsDBi58204

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
84823
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325327; ENSP00000327054; ENSG00000176619
GeneIDi84823
KEGGihsa:84823

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84823
DisGeNETi84823
EuPathDBiHostDB:ENSG00000176619.10

GeneCards: human genes, protein and diseases

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GeneCardsi
LMNB2
HGNCiHGNC:6638 LMNB2
HPAiCAB022593
HPA047863
HPA062477
MalaCardsiLMNB2
MIMi150341 gene
608709 phenotype
616540 phenotype
neXtProtiNX_Q03252
OpenTargetsiENSG00000176619
Orphaneti79087 Acquired partial lipodystrophy
457265 Progressive myoclonic epilepsy type 9
PharmGKBiPA30404

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0977 Eukaryota
ENOG410Y2H6 LUCA
GeneTreeiENSGT00940000160274
HOGENOMiHOG000007711
HOVERGENiHBG013015
InParanoidiQ03252
KOiK07611
OMAiEEIAYKF
OrthoDBi223749at2759
TreeFamiTF101181

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
LMNB2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
84823

Protein Ontology

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PROi
PR:Q03252

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000176619 Expressed in 148 organ(s), highest expression level in testis

Family and domain databases

Gene3Di2.60.40.1260, 1 hit
InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR001322 Lamin_tail_dom
IPR036415 Lamin_tail_dom_sf
PANTHERiPTHR23239 PTHR23239, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PF00932 LTD, 1 hit
SMARTiView protein in SMART
SM01391 Filament, 1 hit
SUPFAMiSSF74853 SSF74853, 1 hit
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit
PS51841 LTD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLMNB2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q03252
Secondary accession number(s): O75292, Q14734, Q96DF6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 11, 2015
Last modified: February 13, 2019
This is version 194 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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