LMNB2
Lamin-B2
Also known as: LMN2, LMNB2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q03252
- Gene
- LMNB2
- Ensembl
- ENSG00000176619
- Chromosome
- 19
- Canonical length
- 620 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nuclear membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
620 residues, UniProt reviewed canonical sequence.
>Q03252|LMNB2
1 MSPPSPGRRR EQRRPRAAAT MATPLPGRAG GPATPLSPTR LSRLQEKEEL RELNDRLAHY
61 IDRVRALELE NDRLLLKISE KEEVTTREVS GIKALYESEL ADARRVLDET ARERARLQIE
121 IGKLRAELDE VNKSAKKREG ELTVAQGRVK DLESLFHRSE VELAAALSDK RGLESDVAEL
181 RAQLAKAEDG HAVAKKQLEK ETLMRVDLEN RCQSLQEELD FRKSVFEEEV RETRRRHERR
241 LVEVDSSRQQ EYDFKMAQAL EELRSQHDEQ VRLYKLELEQ TYQAKLDSAK LSSDQNDKAA
301 SAAREELKEA RMRLESLSYQ LSGLQKQASA AEDRIRELEE AMAGERDKFR KMLDAKEQEM
361 TEMRDVMQQQ LAEYQELLDV KLALDMEINA YRKLLEGEEE RLKLSPSPSS RVTVSRATSS
421 SSGSLSATGR LGRSKRKRLE VEEPLGSGPS VLGTGTGGSG GFHLAQQASA SGSVSIEEID
481 LEGKFVQLKN NSDKDQSLGN WRIKRQVLEG EEIAYKFTPK YILRAGQMVT VWAAGAGVAH
541 SPPSTLVWKG QSSWGTGESF RTVLVNADGE EVAMRTVKKS SVMRENENGE EEEEEAEFGE
601 EDLFHQQGDP RTTSRGCYVMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LMNB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 31 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 31 nTPM
- thymus: 22 nTPM
- cerebellum: 19 nTPM
- bone marrow: 16 nTPM
- appendix: 15 nTPM
- skeletal muscle: 14 nTPM
Single-cell type
- early spermatids: 310 nCPM
- late primary spermatocytes: 129 nCPM
- extravillous trophoblasts: 99 nCPM
- esophageal basal cells: 55 nCPM
- migrating cytotrophoblasts: 52 nCPM
- monocyte progenitors: 46 nCPM
Immune cell
- plasmacytoid DC: 3.5 nTPM
- non-classical monocyte: 2.2 nTPM
- MAIT T-cell: 1.6 nTPM
- naive CD8 T-cell: 1.3 nTPM
- memory CD4 T-cell: 1.1 nTPM
- naive CD4 T-cell: 1.1 nTPM
Brain region
- cerebellum: 19 nTPM
- hypothalamus: 18 nTPM
- thalamus: 15 nTPM
- midbrain: 15 nTPM
- amygdala: 14 nTPM
- cerebral cortex: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LMNB2.
Disease | AllUniProt
Conditions LMNB2 is implicated in, by any mechanism.
- Partial acquired lipodystrophy (APLD) MIM:608709
- Epilepsy, progressive myoclonic 9 (EPM9) MIM:616540
- Microcephaly 27, primary, autosomal dominant (MCPH27) MIM:619180
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 688 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Microcephaly 27, primary, autosomal dominant
- Progressive myoclonic epilepsy type 9
- LMNB2-related disorder
- See cases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.1
- gnomAD pLI
- 1
- gnomAD missense Z
- 0.66
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- heterochromatin formation
- nuclear envelope organization
- nuclear migration
- nuclear pore localization
- protein localization to nuclear envelope
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LMNB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LMNB2 as an antibody target. Whether an autoantibody or antibody against LMNB2 could matter depends on whether native LMNB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LMNB2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LMNB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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