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Aliases for LBR Gene

Aliases for LBR Gene

  • Lamin B Receptor 2 3 5
  • Integral Nuclear Envelope Inner Membrane Protein 3 4
  • Tudor Domain Containing 18 2 3
  • LMN2R 3 4
  • Lamin-B Receptor 3
  • 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 Reynolds Syndrome and Pelger-Huet Anomaly. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for LBR Gene

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

Genomics for LBR Gene

GeneHancer (GH) Regulatory Elements for LBR Gene

Promoters and enhancers for LBR Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J225424 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 671.2 +2.0 2042 5.5 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC ZFP41 LBR ACBD3 ACBD3-AS1 WDR26 ENAH LINC01703 SDE2 ENSG00000272562 LOC105373110 GC01M225252
GH01J225459 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 706.3 -35.6 -35597 9.5 PKNOX1 ARNT FEZF1 ZNF2 IRF4 ZNF766 ZNF213 ZNF207 ZNF143 SP3 LBR LOC105373110 ENSG00000282418 RPL34P7 ACBD3 ACBD3-AS1 ENSG00000255835 PYCR2 LEFTY2 ENSG00000248322
GH01J225439 Enhancer 1.3 Ensembl ENCODE dbSUPER 43.7 -12.9 -12946 3.8 FOXA2 ZNF133 DMAP1 GLI4 YY1 ZNF121 KDM4B MCM3 RXRA NFYC LBR ACBD3 ACBD3-AS1 RPL34P7 LOC105373110 SDE2 H3F3A ENAH GC01M225252 ENSG00000282418
GH01J225444 Enhancer 1.5 Ensembl ENCODE dbSUPER 36.1 -18.2 -18194 6.1 HDGF PKNOX1 SMAD1 MLX ARNT FEZF1 YY1 POLR2B ZNF766 CBX5 LBR ACBD3 ACBD3-AS1 ENAH GC01M225252 LOC105373110 ENSG00000282418
GH01J225650 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.3 -225.8 -225753 8.6 HDGF PKNOX1 ZFP64 SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 ZNF548 ENAH ACBD3 ACBD3-AS1 RPL34P7 LBR LINC01703 LOC105373110 SDE2 ENSG00000272562 H3F3A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LBR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LBR gene promoter:
  • AP-1
  • c-Fos

Genomic Locations for LBR Gene

Genomic Locations for LBR Gene
27,424 bases
Minus strand
27,424 bases
Minus strand

Genomic View for LBR Gene

Genes around LBR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LBR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Lamin-B receptor
    Protein Accession:
    Secondary Accessions:
    • B2R5P3
    • Q14740
    • Q53GU7
    • Q59FE6

    Protein attributes for LBR Gene

    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.
    • Sequence=BAD92751.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LBR Gene

neXtProt entry for LBR Gene

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 posLast=601601, isoforms=190, and posLast=116116
  • 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

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for LBR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3.
  • Belongs to the ERG4/ERG24 family.
  • The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3.
  • 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

UniProtKB/Swiss-Prot Function:
Anchors the lamina and the heterochromatin to the inner nuclear membrane.
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

Phenotypes From GWAS Catalog for LBR Gene

Gene Ontology (GO) - Molecular Function for LBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding HDA 22681889
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 --
genes like me logo Genes that share ontologies with LBR: view
genes like me logo Genes that share phenotypes with LBR: view

Human Phenotype Ontology for LBR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for LBR

miRNA for LBR Gene

miRTarBase miRNAs that target LBR

Clone Products

  • Addgene plasmids for LBR

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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LBR gene
Compartment Confidence
nucleus 5
plasma membrane 4
endoplasmic reticulum 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS,IEA --
GO:0005637 nuclear inner membrane IBA,IEA --
GO:0005639 integral component of nuclear inner membrane TAS 8157662
GO:0016020 membrane HDA 19946888
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:0016126 sterol biosynthetic process IBA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with LBR: view

Drugs & Compounds for LBR Gene

(56) Drugs for LBR Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(34) Additional Compounds for LBR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

  • Addgene plasmids for LBR

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: -

Relevant External Links for LBR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LBR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LBR Gene

Protein tissue co-expression partners for LBR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LBR Gene:


SOURCE GeneReport for Unigene cluster for LBR Gene:


Evidence on tissue expression from TISSUES for LBR Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Skin(4.4)
  • Blood(3.7)
  • Heart(2.4)
  • Intestine(2.4)
  • Lung(2.3)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LBR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • face
  • forehead
  • head
  • jaw
  • lacrimal apparatus
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • salivary gland
  • skull
  • tongue
  • tooth
  • vocal cord
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • pelvis
  • placenta
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LBR: view

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
(Pan troglodytes)
Mammalia LBR 34 33
  • 99.51 (n)
(Bos Taurus)
Mammalia LBR 34 33
  • 86.83 (n)
(Canis familiaris)
Mammalia LBR 34 33
  • 82.17 (n)
(Rattus norvegicus)
Mammalia Lbr 33
  • 79.89 (n)
(Mus musculus)
Mammalia Lbr 16 34 33
  • 79.19 (n)
(Monodelphis domestica)
Mammalia LBR 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia LBR 34
  • 78 (a)
(Gallus gallus)
Aves LBR 34 33
  • 68.07 (n)
(Anolis carolinensis)
Reptilia LBR 34
  • 56 (a)
African clawed frog
(Xenopus laevis)
Amphibia lbr-A 33
(Danio rerio)
Actinopterygii lbr 34 33
  • 58.06 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta LBR 33
  • 41.11 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C12265g 33
  • 51.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG24 36 34 33
  • 50.66 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR346W 33
  • 47.85 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg24 33
  • 55.62 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08762 33
  • 50.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
Species where no ortholog for LBR was found in the sources mined by GeneCards:
  • 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

Gene Tree for LBR (if available)
Gene Tree for LBR (if available)
Evolutionary constrained regions (ECRs) for LBR: view image

Paralogs for LBR Gene

Paralogs for LBR Gene

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

  • H7C108_HUMAN
  • H7C442_HUMAN
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 Variation AA Info Type
rs1056605 uncertain-significance, Greenberg dysplasia 225,427,980(-) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1056607 benign, not specified, Greenberg dysplasia 225,423,959(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1056608 benign, not specified, Greenberg dysplasia 225,422,182(-) A/G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1057516045 likely-pathogenic, Pelger-Hu\u00ebt anomaly 225,403,404(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs112582692 likely-benign, Greenberg dysplasia 225,412,467(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv1004851 CNV gain 25217958
nsv832714 CNV loss 17160897

Variation tolerance for LBR Gene

Residual Variation Intolerance Score: 75.5% 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)

Additional Variant Information for LBR Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for LBR Gene

MalaCards: The human disease database

(17) MalaCards diseases for LBR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
reynolds syndrome
  • primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia
pelger-huet anomaly
  • pha
greenberg dysplasia
  • grbgd
regressive spondylometaphyseal dysplasia
short-rib thoracic dysplasia 1 with or without polydactyly
  • srtd1
- elite association - COSMIC cancer census association via MalaCards
Search LBR in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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.
  • 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.

Additional Disease Information for LBR

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

No data available for Genatlas for LBR Gene

Publications for LBR Gene

  1. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. (PMID: 12618959) Waterham HR … Oosterwijk JC (American journal of human genetics 2003) 3 4 22 58
  2. Lamin B-receptor mutations in Pelger-Huët anomaly. (PMID: 14617022) Best S … Rees DC (British journal of haematology 2003) 3 4 22 58
  3. Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker. (PMID: 10828963) Duband-Goulet I … Courvalin JC (Biochemistry 2000) 3 4 22 58
  4. The human lamin B receptor/sterol reductase multigene family. (PMID: 9878250) Holmer L … Worman HJ (Genomics 1998) 2 3 22 58
  5. Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane. (PMID: 8157662) Ye Q … Worman HJ (The Journal of biological chemistry 1994) 3 4 22 58

Products for LBR Gene

Sources for LBR Gene

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