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Q03252 (LMNB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 146. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lamin-B2
Gene names
Name:LMNB2
Synonyms:LMN2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length600 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with TMEM43 By similarity.

Subcellular location

Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side.

Post-translational modification

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.

Involvement in disease

Partial acquired lipodystrophy (APLD) [MIM:608709]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17

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.

Sequence similarities

Belongs to the intermediate filament family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 597597Lamin-B2
PRO_0000063820
Propeptide598 – 6003Removed in mature form By similarity
PRO_0000403470

Regions

Region1 – 2828Head
Region29 – 380352Rod
Region29 – 6335Coil 1A
Region64 – 7512Linker 1
Region76 – 209134Coil 1B
Region210 – 23627Linker 2
Region237 – 380144Coil 2
Region381 – 600220Tail
Motif415 – 4206Nuclear localization signal Potential
Compositional bias570 – 58213Asp/Glu-rich (highly acidic; could be involved in chromatin binding)

Amino acid modifications

Modified residue141Phosphothreonine Ref.6 Ref.10 Ref.12 Ref.14
Modified residue171Phosphoserine Ref.10
Modified residue611N6-acetyllysine Ref.13
Modified residue4001Phosphoserine Ref.16
Modified residue4021Phosphoserine Ref.10 Ref.16
Modified residue4041Phosphoserine Ref.10 Ref.16
Modified residue4061Phosphoserine Ref.10 Ref.16
Modified residue5971Cysteine methyl ester By similarity
Lipidation5971S-farnesyl cysteine By similarity

Natural variations

Natural variant2151R → Q in APLD. Ref.17
Corresponds to variant rs61726481 [ dbSNP | Ensembl ].
VAR_031063
Natural variant2161R → W in a colorectal cancer sample; somatic mutation. Ref.18
VAR_036370
Natural variant4071A → T in APLD. Ref.17
Corresponds to variant rs57521499 [ dbSNP | Ensembl ].
VAR_031064

Experimental info

Sequence conflict3811R → S in AAA80979. Ref.5
Sequence conflict419 – 45537LEVEE…SGSVS → WRWRSPWQRPKRPGHGHGWQ RWLPPGPAGLGLGQRH in AAA80979. Ref.5

Secondary structure

....................... 600
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q03252 [UniParc].

Last modified September 19, 2002. Version 3.
Checksum: 3A1B9098F7EA943B

FASTA60067,689
        10         20         30         40         50         60 
MATPLPGRAG GPATPLSPTR LSRLQEKEEL RELNDRLAHY IDRVRALELE NDRLLLKISE 

        70         80         90        100        110        120 
KEEVTTREVS GIKALYESEL ADARRVLDET ARERARLQIE IGKLRAELDE VNKSAKKREG 

       130        140        150        160        170        180 
ELTVAQGRVK DLESLFHRSE VELAAALSDK RGLESDVAEL RAQLAKAEDG HAVAKKQLEK 

       190        200        210        220        230        240 
ETLMRVDLEN RCQSLQEELD FRKSVFEEEV RETRRRHERR LVEVDSSRQQ EYDFKMAQAL 

       250        260        270        280        290        300 
EELRSQHDEQ VRLYKLELEQ TYQAKLDSAK LSSDQNDKAA SAAREELKEA RMRLESLSYQ 

       310        320        330        340        350        360 
LSGLQKQASA AEDRIRELEE AMAGERDKFR KMLDAKEQEM TEMRDVMQQQ LAEYQELLDV 

       370        380        390        400        410        420 
KLALDMEINA YRKLLEGEEE RLKLSPSPSS RVTVSRATSS SSGSLSATGR LGRSKRKRLE 

       430        440        450        460        470        480 
VEEPLGSGPS VLGTGTGGSG GFHLAQQASA SGSVSIEEID LEGKFVQLKN NSDKDQSLGN 

       490        500        510        520        530        540 
WRIKRQVLEG EEIAYKFTPK YILRAGQMVT VWAAGAGVAH SPPSTLVWKG QSSWGTGESF 

       550        560        570        580        590        600 
RTVLVNADGE EVAMRTVKKS SVMRENENGE EEEEEAEFGE EDLFHQQGDP RTTSRGCYVM 

« Hide

References

« Hide 'large scale' references
[1]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Muscle.
[4]Lubec G., Chen W.-Q., Sun Y.
Submitted (DEC-2008) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 74-84; 131-150; 152-161; 192-202; 236-244; 294-306; 345-372; 486-496 AND 530-555, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Fetal brain cortex.
[5]"The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S-phase."
Biamonti G., Giacca M., Perini G., Contreas G., Zentilin L., Weighardt F., Guerra M., Valle G.D., Saccone S., Riva S., Falaschi A.
Mol. Cell. Biol. 12:3499-3506(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-600, NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 511-600.
[6]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment."
Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J.
J. Proteome Res. 7:5167-5176(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: T-cell.
[9]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-14; SER-17; SER-402; SER-404 AND SER-406, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[13]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-61, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-400; SER-402; SER-404 AND SER-406, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[17]"Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy."
Hegele R.A., Cao H., Liu D.M., Costain G.A., Charlton-Menys V., Rodger N.W., Durrington P.N.
Am. J. Hum. Genet. 79:383-389(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS APLD GLN-215 AND THR-407.
[18]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-216.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BT007441 mRNA. Translation: AAP36109.1.
AC011522 Genomic DNA. No translation available.
AC005624 Genomic DNA. Translation: AAC34573.1.
BC006551 mRNA. Translation: AAH06551.1.
M94362 mRNA. Translation: AAA80979.1.
M94363 Genomic DNA. Translation: AAB00873.1. Sequence problems.
RefSeqNP_116126.3. NM_032737.3.
UniGeneHs.538286.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2LLLNMR-A449-569[»]
ProteinModelPortalQ03252.
SMRQ03252. Positions 22-214, 284-377, 449-569.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124281. 10 interactions.
DIPDIP-57724N.
IntActQ03252. 6 interactions.
MINTMINT-3024955.
STRING9606.ENSP00000327054.

PTM databases

PhosphoSiteQ03252.

Polymorphism databases

DMDM23503078.

2D gel databases

REPRODUCTION-2DPAGEIPI00009771.

Proteomic databases

PaxDbQ03252.
PRIDEQ03252.

Protocols and materials databases

DNASU84823.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000582871; ENSP00000462730; ENSG00000176619.
GeneID84823.
KEGGhsa:84823.

Organism-specific databases

CTD84823.
GeneCardsGC19M002428.
HGNCHGNC:6638. LMNB2.
HPACAB022593.
MIM150341. gene.
608709. phenotype.
neXtProtNX_Q03252.
Orphanet79087. Partial acquired lipodystrophy.
PharmGKBPA30404.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325506.
HOGENOMHOG000007711.
HOVERGENHBG013015.
InParanoidQ03252.
KOK07611.
PhylomeDBQ03252.
TreeFamTF101181.

Gene expression databases

ArrayExpressQ03252.
BgeeQ03252.
CleanExHS_LMNB2.
GenevestigatorQ03252.

Family and domain databases

Gene3D2.60.40.1260. 1 hit.
InterProIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR001322. Lamin_tail_dom.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
PF00932. LTD. 1 hit.
[Graphical view]
SUPFAMSSF74853. SSF74853. 1 hit.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLMNB2. human.
GenomeRNAi84823.
NextBio75028.
PROQ03252.
SOURCESearch...

Entry information

Entry nameLMNB2_HUMAN
AccessionPrimary (citable) accession number: Q03252
Secondary accession number(s): O75292, Q14734, Q96DF6
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: September 19, 2002
Last modified: April 16, 2014
This is version 146 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM