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Aliases for LBR Gene

Aliases for LBR Gene

  • Lamin B Receptor 2 3
  • Integral Nuclear Envelope Inner Membrane Protein 3 4
  • Tudor Domain Containing 18 2 3
  • LMN2R 3 4
  • DHCR14B 3
  • TDRD18 3
  • PHA 3

External Ids for LBR Gene

Previous GeneCards Identifiers for LBR Gene

  • GC01M224071
  • GC01M221406
  • GC01M221996
  • GC01M222563
  • GC01M221895
  • GC01M223657
  • GC01M225589
  • GC01M196108

Summaries for LBR Gene

Entrez Gene Summary for LBR Gene

  • The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for LBR Gene

LBR (Lamin B Receptor) is a Protein Coding gene. Diseases associated with LBR include greenberg skeletal dysplasia and pelger-huet anomaly. Among its related pathways are Metabolism and Terpenoid backbone biosynthesis. GO annotations related to this gene include poly(A) RNA binding and oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor. An important paralog of this gene is TM7SF2.

UniProtKB/Swiss-Prot for LBR Gene

  • Anchors the lamina and the heterochromatin to the inner nuclear membrane.

Gene Wiki entry for LBR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LBR Gene

Genomics for LBR Gene

Regulatory Elements for LBR Gene

Transcription factor binding sites by QIAGEN in the LBR gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LBR Gene

Chromosome:
1
Start:
225,401,502 bp from pter
End:
225,428,925 bp from pter
Size:
27,424 bases
Orientation:
Minus strand

Genomic View for LBR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LBR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LBR Gene

Proteins for LBR Gene

  • Protein details for LBR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14739-LBR_HUMAN
    Recommended name:
    Lamin-B receptor
    Protein Accession:
    Q14739
    Secondary Accessions:
    • B2R5P3
    • Q14740
    • Q53GU7
    • Q59FE6

    Protein attributes for LBR Gene

    Size:
    615 amino acids
    Molecular mass:
    70703 Da
    Quaternary structure:
    • Interacts directly with CBX5. Can interact with chromodomain proteins. Interacts directly with DNA. Interaction with DNA is sequence independent with higher affinity for supercoiled and relaxed circular DNA than linear DNA.
    SequenceCaution:
    • Sequence=BAD92751.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LBR Gene

neXtProt entry for LBR Gene

Proteomics data for LBR Gene at MOPED

Post-translational modifications for LBR Gene

  • Phosphorylated by CDK1 in mitosis when the inner nuclear membrane breaks down into vesicles that dissociate from the lamina and the chromatin. It is phosphorylated by different protein kinases in interphase when the membrane is associated with these structures. Phosphorylation of LBR and HP1 proteins may be responsible for some of the alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle. Phosphorylated by SRPK1. In late anaphase LBR is dephosphorylated, probably by PP1 and/or PP2A, allowing reassociation with chromatin.
  • Ubiquitination at Lys 116, Lys 190, and Lys 601
  • Modification sites at PhosphoSitePlus

Other Protein References for LBR Gene

No data available for DME Specific Peptides for LBR Gene

Domains & Families for LBR Gene

Gene Families for LBR Gene

Suggested Antigen Peptide Sequences for LBR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14739

UniProtKB/Swiss-Prot:

LBR_HUMAN :
  • The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3.
  • Belongs to the ERG4/ERG24 family.
Domain:
  • The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3.
  • Contains 1 Tudor domain.
Family:
  • Belongs to the ERG4/ERG24 family.
genes like me logo Genes that share domains with LBR: view

Function for LBR Gene

Molecular function for LBR Gene

GENATLAS Biochemistry:
lamin B receptor,integral protein of the nuclear enveloppe inner membrane,binding the lamina to chr hetrerochromatin,ubiquitously expressed,LAP2 (lamina-associated protein 2) family
UniProtKB/Swiss-Prot Function:
Anchors the lamina and the heterochromatin to the inner nuclear membrane.

Gene Ontology (GO) - Molecular Function for LBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 8663349
GO:0005521 lamin binding TAS 8157662
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IBA --
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with LBR: view
genes like me logo Genes that share phenotypes with LBR: view

Animal Model Products

miRNA for LBR Gene

miRTarBase miRNAs that target LBR

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LBR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LBR Gene

Localization for LBR Gene

Subcellular locations from UniProtKB/Swiss-Prot for LBR Gene

Nucleus inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LBR Gene COMPARTMENTS Subcellular localization image for LBR gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 2
cytoskeleton 1
cytosol 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for LBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope TAS --
GO:0005639 integral component of nuclear inner membrane TAS 8157662
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IDA 15698635
GO:0030176 NOT integral component of endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with LBR: view

Pathways & Interactions for LBR Gene

genes like me logo Genes that share pathways with LBR: view

SIGNOR curated interactions for LBR Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for LBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with LBR: view

Drugs & Compounds for LBR Gene

(55) Drugs for LBR Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminolevulinic acid Approved Pharma 128
Carbachol Approved Pharma Full agonist, Agonist 3
Chloramphenicol Approved Pharma 6
Cimetidine Approved Pharma Inhibition, Inhibitor H2 receptor antagonist, H2 antagonist, I1 agonist 66
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437

(35) Additional Compounds for LBR Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
12-O-Tetradecanoylphorbol 13-acetate
3beta-Hydroxysterol
86Rb
A23187
Acridine
genes like me logo Genes that share compounds with LBR: view

Transcripts for LBR Gene

Unigene Clusters for LBR Gene

Lamin B receptor:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LBR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LBR Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b
SP1: - -
SP2: -
SP3: - - -
SP4: -
SP5:
SP6:

Relevant External Links for LBR Gene

GeneLoc Exon Structure for
LBR
ECgene alternative splicing isoforms for
LBR

Expression for LBR Gene

mRNA expression in normal human tissues for LBR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LBR Gene

This gene is overexpressed in Whole Blood (x5.4).

Protein differential expression in normal tissues from HIPED for LBR Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.4), NK cells (9.7), CD8 Tcells (8.6), and Breast (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LBR Gene



SOURCE GeneReport for Unigene cluster for LBR Gene Hs.435166

genes like me logo Genes that share expression patterns with LBR: view

Protein tissue co-expression partners for LBR Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for LBR Gene

Orthologs for LBR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LBR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LBR 35
  • 86.83 (n)
  • 87.32 (a)
LBR 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LBR 35
  • 82.17 (n)
  • 82.6 (a)
LBR 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lbr 35
  • 79.19 (n)
  • 80 (a)
Lbr 16
Lbr 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LBR 35
  • 99.51 (n)
  • 99.02 (a)
LBR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lbr 35
  • 79.89 (n)
  • 79.67 (a)
oppossum
(Monodelphis domestica)
Mammalia LBR 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LBR 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LBR 35
  • 68.07 (n)
  • 68.57 (a)
LBR 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LBR 36
  • 56 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia lbr-A 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
lbr 35
  • 58.06 (n)
  • 52.61 (a)
lbr 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta LBR 35
  • 41.11 (n)
  • 28.54 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR346W 35
  • 47.85 (n)
  • 42.57 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C12265g 35
  • 51.12 (n)
  • 44.66 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG24 35
  • 50.66 (n)
  • 43.78 (a)
ERG24 36
  • 38 (a)
OneToMany
ERG24 38
bread mold
(Neurospora crassa)
Ascomycetes NCU08762 35
  • 50.86 (n)
  • 44.99 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg24 35
  • 55.62 (n)
  • 50.83 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
Species with no ortholog for LBR:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LBR Gene

ENSEMBL:
Gene Tree for LBR (if available)
TreeFam:
Gene Tree for LBR (if available)

Paralogs for LBR Gene

Paralogs for LBR Gene

(2) SIMAP similar genes for LBR Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with LBR: view

Variants for LBR Gene

Sequence variations from dbSNP and Humsavar for LBR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs7406 -- 225,401,771(-) CTAAT(A/G)TGTGC utr-variant-3-prime
rs14205 -- 225,401,942(-) TTTAA(C/T)TACAC utr-variant-3-prime
rs1011319 -- 225,410,144(+) GCTTC(A/G)CATGG intron-variant, downstream-variant-500B
rs1016834 -- 225,409,961(+) TAATT(G/T)AGTAA intron-variant, downstream-variant-500B
rs1056605 -- 225,427,980(-) GCCGT(C/T)CGTGT utr-variant-5-prime, intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LBR Gene

Variant ID Type Subtype PubMed ID
nsv832714 CNV Loss 17160897

Variation tolerance for LBR Gene

Residual Variation Intolerance Score: 75.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LBR Gene

HapMap Linkage Disequilibrium report
LBR
Human Gene Mutation Database (HGMD)
LBR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LBR Gene

Disorders for LBR Gene

MalaCards: The human disease database

(12) MalaCards diseases for LBR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
greenberg skeletal dysplasia
  • hem skeletal dysplasia
pelger-huet anomaly
  • ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
reynolds syndrome
  • primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia
lymphocytes absent
viral hemorrhagic fever
  • hemorrhagic fevers, viral
- elite association
Search LBR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LBR_HUMAN
  • Greenberg dysplasia (GRBGD) [MIM:215140]: A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers. {ECO:0000269 PubMed:12618959}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pelger-Huet anomaly (PHA) [MIM:169400]: An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure. Some individuals occasionally have skeletal anomalies, developmental delay, and seizures. {ECO:0000269 PubMed:14617022}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Reynolds syndrome (REYNS) [MIM:613471]: A syndrome specifically associating limited cutaneous systemic sclerosis and primary biliary cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis. {ECO:0000269 PubMed:20522425}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for LBR

Genetic Association Database (GAD)
LBR
Human Genome Epidemiology (HuGE) Navigator
LBR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LBR
genes like me logo Genes that share disorders with LBR: view

No data available for Genatlas for LBR Gene

Publications for LBR Gene

  1. The human lamin B receptor/sterol reductase multigene family. (PMID: 9878250) Holmer L. … Worman H.J. (Genomics 1998) 2 23 67
  2. Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7. (PMID: 19940018) Zwerger M. … Herrmann H. (Mol. Biol. Cell 2010) 23 67
  3. LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. (PMID: 20522425) Gaudy-Marqueste C. … De Sandre-Giovannoli A. (J. Med. Genet. 2010) 23 67
  4. Mifepristone acts as progesterone antagonist of non-genomic responses but inhibits phytohemagglutinin-induced proliferation in human T cells. (PMID: 19401324) Chien C.H. … Chien E.J. (Hum. Reprod. 2009) 23 67
  5. Dichloromethane extract of Dicerocaryum senecioides leaves exhibits remarkable anti-inflammatory activity in human T-lymphocytes. (PMID: 19521914) Madiga M.C. … Mampuru L.J. (Nat. Prod. Res. 2009) 23 67

Products for LBR Gene

Sources for LBR Gene

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