Human Gene LMNB2 (ENST00000325327.4_7) from GENCODE V47lift37
  Description: lamin B2 (from RefSeq NM_032737.4)
Gencode Transcript: ENST00000325327.4_7
Gencode Gene: ENSG00000176619.13_11
Transcript (Including UTRs)
   Position: hg19 chr19:2,428,164-2,456,957 Size: 28,794 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr19:2,430,909-2,456,931 Size: 26,023 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:2,428,164-2,456,957)mRNA (may differ from genome)Protein (620 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LMNB2_HUMAN
DESCRIPTION: RecName: Full=Lamin-B2; Flags: Precursor;
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: Interacts with TMEM43 (By similarity).
SUBCELLULAR LOCATION: Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side.
PTM: 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.
DISEASE: Defects in LMNB2 are a cause of 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.
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.
SIMILARITY: Belongs to the intermediate filament family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LMNB2
Diseases sorted by gene-association score: epilepsy, progressive myoclonic, 9* (1629), lipodystrophy, partial, acquired* (1000), lipodystrophy (20), reynolds syndrome (10), pelger-huet anomaly (8), emery-dreifuss muscular dystrophy (7), leber congenital amaurosis 2 (7), complement deficiency (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.05 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 444.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.1026-0.235 Picture PostScript Text
3' UTR -1102.302745-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR018039 - Intermediate_filament_CS
IPR001322 - Lamin_tail_dom

Pfam Domains:
PF00038 - Intermediate filament protein
PF00932 - Lamin Tail Domain

SCOP Domains:
74853 - Lamin A/C globular tail domain
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2LLL - NMR


ModBase Predicted Comparative 3D Structure on Q03252
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005198 structural molecule activity
GO:0005515 protein binding

Biological Process:
GO:0008150 biological_process

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005637 nuclear inner membrane
GO:0005638 lamin filament
GO:0005882 intermediate filament
GO:0016020 membrane
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  BC009267 - Homo sapiens lamin B2, mRNA (cDNA clone IMAGE:4053047), partial cds.
BC006513 - Homo sapiens lamin B2, mRNA (cDNA clone IMAGE:2822010), partial cds.
LF384668 - JP 2014500723-A/192171: Polycomb-Associated Non-Coding RNAs.
AK129641 - Homo sapiens cDNA FLJ26130 fis, clone TMS03366.
M94362 - Human lamin B2 (LAMB2) mRNA, partial cds.
JD183625 - Sequence 164649 from Patent EP1572962.
JD141654 - Sequence 122678 from Patent EP1572962.
JD196237 - Sequence 177261 from Patent EP1572962.
JD143136 - Sequence 124160 from Patent EP1572962.
JD153872 - Sequence 134896 from Patent EP1572962.
JD406077 - Sequence 387101 from Patent EP1572962.
JD502657 - Sequence 483681 from Patent EP1572962.
JD171589 - Sequence 152613 from Patent EP1572962.
JD443525 - Sequence 424549 from Patent EP1572962.
JD199309 - Sequence 180333 from Patent EP1572962.
JD140735 - Sequence 121759 from Patent EP1572962.
JD199308 - Sequence 180332 from Patent EP1572962.
JD140708 - Sequence 121732 from Patent EP1572962.
JD378897 - Sequence 359921 from Patent EP1572962.
JD245123 - Sequence 226147 from Patent EP1572962.
JD551545 - Sequence 532569 from Patent EP1572962.
JD051451 - Sequence 32475 from Patent EP1572962.
JD193012 - Sequence 174036 from Patent EP1572962.
JD239375 - Sequence 220399 from Patent EP1572962.
JD438141 - Sequence 419165 from Patent EP1572962.
JD127553 - Sequence 108577 from Patent EP1572962.
JD457961 - Sequence 438985 from Patent EP1572962.
JD184450 - Sequence 165474 from Patent EP1572962.
JD067072 - Sequence 48096 from Patent EP1572962.
JD178190 - Sequence 159214 from Patent EP1572962.
JD147081 - Sequence 128105 from Patent EP1572962.
JD470561 - Sequence 451585 from Patent EP1572962.
JD339784 - Sequence 320808 from Patent EP1572962.
JD393705 - Sequence 374729 from Patent EP1572962.
JD409005 - Sequence 390029 from Patent EP1572962.
JD483042 - Sequence 464066 from Patent EP1572962.
DL491284 - Novel nucleic acids.
JD218462 - Sequence 199486 from Patent EP1572962.
DL489924 - Novel nucleic acids.
JD341738 - Sequence 322762 from Patent EP1572962.
JD566405 - Sequence 547429 from Patent EP1572962.
JD380973 - Sequence 361997 from Patent EP1572962.
JD151978 - Sequence 133002 from Patent EP1572962.
JD549734 - Sequence 530758 from Patent EP1572962.
JD235457 - Sequence 216481 from Patent EP1572962.
JD195543 - Sequence 176567 from Patent EP1572962.
JD293886 - Sequence 274910 from Patent EP1572962.
JD234321 - Sequence 215345 from Patent EP1572962.
JD279685 - Sequence 260709 from Patent EP1572962.
JD077073 - Sequence 58097 from Patent EP1572962.
JD043251 - Sequence 24275 from Patent EP1572962.
JD453418 - Sequence 434442 from Patent EP1572962.
JD181655 - Sequence 162679 from Patent EP1572962.
JD370898 - Sequence 351922 from Patent EP1572962.
JD227463 - Sequence 208487 from Patent EP1572962.
LF323152 - JP 2014500723-A/130655: Polycomb-Associated Non-Coding RNAs.
JD057698 - Sequence 38722 from Patent EP1572962.
JD483770 - Sequence 464794 from Patent EP1572962.
JD138947 - Sequence 119971 from Patent EP1572962.
JD545643 - Sequence 526667 from Patent EP1572962.
JD120288 - Sequence 101312 from Patent EP1572962.
JD365568 - Sequence 346592 from Patent EP1572962.
JD228497 - Sequence 209521 from Patent EP1572962.
JD398948 - Sequence 379972 from Patent EP1572962.
BC006551 - Homo sapiens lamin B2, mRNA (cDNA clone MGC:2538 IMAGE:2961134), complete cds.
EU832653 - Synthetic construct Homo sapiens clone HAIB:100067682; DKFZo008F0331 lamin B2 protein (LMNB2) gene, encodes complete protein.
EU832731 - Synthetic construct Homo sapiens clone HAIB:100067760; DKFZo004F0332 lamin B2 protein (LMNB2) gene, encodes complete protein.
KP137589 - Homo sapiens lamin B3 (LMNB2) mRNA, complete cds.
GQ891286 - Homo sapiens clone HEL-S-9a epididymis secretory sperm binding protein mRNA, complete cds.
BT007441 - Homo sapiens lamin B1 mRNA, complete cds.
MA620245 - JP 2018138019-A/192171: Polycomb-Associated Non-Coding RNAs.
MA558729 - JP 2018138019-A/130655: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_caspasePathway - Caspase Cascade in Apoptosis
h_tnfr1Pathway - TNFR1 Signaling Pathway
h_fasPathway - FAS signaling pathway ( CD95 )
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000325327.1, ENST00000325327.2, ENST00000325327.3, LMN2, LMNB2_HUMAN, NM_032737, O75292, Q03252, Q14734, Q96DF6, uc317rvx.1, uc317rvx.2
UCSC ID: ENST00000325327.4_7
RefSeq Accession: NM_032737.4
Protein: Q03252 (aka LMNB2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.