U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LBR lamin B receptor [ Homo sapiens (human) ]

Gene ID: 3930, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
LBRprovided by HGNC
Official Full Name
lamin B receptorprovided by HGNC
Primary source
HGNC:HGNC:6518
See related
Ensembl:ENSG00000143815 MIM:600024; AllianceGenome:HGNC:6518
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PHA; C14SR; LMN2R; PHASK; TDRD18; DHCR14B
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 40.2), bone marrow (RPKM 33.5) and 23 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LBR in Genome Data Viewer
Location:
1q42.12
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (225401502..225428821, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (224589793..224617112, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (225589204..225616523, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373109 Neighboring gene uncharacterized LOC124904524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1854 Neighboring gene dynein axonemal heavy chain 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225333859-225334360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225334361-225334860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1855 Neighboring gene MPRA-validated peak726 silencer Neighboring gene MPRA-validated peak727 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2619 Neighboring gene uncharacterized LOC124904525 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:225614150-225614822 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:225614823-225615494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225634414-225634974 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11936 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225633853-225634413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225634975-225635534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225643575-225644075 Neighboring gene Sharpr-MPRA regulatory region 13241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225648195-225648876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225653249-225654138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225660151-225660670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225660671-225661190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2627 Neighboring gene uncharacterized LOC124904526 Neighboring gene long intergenic non-protein coding RNA 2765 Neighboring gene ENAH actin regulator

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis. Patil S, et al. Hum Mol Genet, 2023 Feb 19. PMID 36124691
  2. A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly. Collins M, et al. Bone, 2020 Dec. PMID 32827848
  3. The role of lamin B receptor in the regulation of senescence-associated secretory phenotype (SASP). En A, et al. Exp Cell Res, 2020 May 1. PMID 32126237
  4. Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome. En A, et al. FEBS Open Bio, 2020 Feb. PMID 31825172, Free PMC Article
  5. [Analysis of LBR gene mutation in a pedigree affected with Pelger-Huёt anomaly]. Luo X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 Sep 10. PMID 31515787

See all (190) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.
    Title: Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.
  2. Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.
    Title: Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.
  3. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
    Title: Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
  4. Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads to Changes in Heterochromatin State and Senescence Induction in Malignant Melanoma.
    Title: Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads to Changes in Heterochromatin State and Senescence Induction in Malignant Melanoma.
  5. Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome.
    Title: Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome.
  6. Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
    Title: Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
  7. Reduction of lamin B receptor levels by miR-340-5p disrupts chromatin, promotes cell senescence and enhances senolysis.
    Title: Reduction of lamin B receptor levels by miR-340-5p disrupts chromatin, promotes cell senescence and enhances senolysis.
  8. TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
    Title: TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
  9. A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huet anomaly.
    Title: A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.
  10. The role of lamin B receptor in the regulation of senescence-associated secretory phenotype (SASP).
    Title: The role of lamin B receptor in the regulation of senescence-associated secretory phenotype (SASP).
Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Greenberg dysplasia
MedGen: C2931048 OMIM: 215140 GeneReviews: Not available
Compare labs
Pelger-Huet anomaly
MedGen: C0030779 OMIM: 169400 GeneReviews: Not available
Compare labs
Regressive spondylometaphyseal dysplasia
MedGen: C4747922 OMIM: 618019 GeneReviews: Not available
Compare labs
Reynolds syndrome
MedGen: C0748397 OMIM: 613471 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Tat tat Interaction of HIV-1 Tat with lamin B receptor in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC9041, FLJ43126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables NADPH binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables RNA binding HDA PubMed 
enables chromo shadow domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables delta14-sterol reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables delta14-sterol reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables delta14-sterol reductase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables delta14-sterol reductase activity TAS
Traceable Author Statement
more info
  
enables lamin binding TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cholesterol biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in neutrophil differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope TAS
Traceable Author Statement
more info
  
is_active_in nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nuclear inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
delta(14)-sterol reductase LBR
Names
3-beta-hydroxysterol Delta (14)-reductase
C-14 sterol reductase
delta-14-SR
integral nuclear envelope inner membrane protein
sterol C14-reductase
tudor domain containing 18
NP_002287.2
NP_919424.1
XP_005273182.1
XP_011542487.1
XP_047276332.1
XP_047276333.1
XP_047276342.1
XP_054192529.1
XP_054192530.1
XP_054192531.1
XP_054192532.1
XP_054192533.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008099.1 RefSeqGene

    Range
    5780..32316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002296.4 → NP_002287.2  delta(14)-sterol reductase LBR

    See identical proteins and their annotated locations for NP_002287.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AU134026, BC020079, L25931
    Consensus CDS
    CCDS1545.1
    UniProtKB/Swiss-Prot
    B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6
    Related
    ENSP00000272163.4, ENST00000272163.9
    Conserved Domains (2) summary
    pfam09465
    Location:1 → 55
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:205 → 615
    PEMT; Phospholipid methyltransferase

  2. NM_194442.3 → NP_919424.1  delta(14)-sterol reductase LBR

    See identical proteins and their annotated locations for NP_919424.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC020079, DA447510, DB091880, L25931
    Consensus CDS
    CCDS1545.1
    UniProtKB/Swiss-Prot
    B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6
    Related
    ENSP00000339883.2, ENST00000338179.6
    Conserved Domains (2) summary
    pfam09465
    Location:1 → 55
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:205 → 615
    PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    225401502..225428821 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420376.1 → XP_047276332.1  delta(14)-sterol reductase LBR isoform X2

  2. XM_005273125.4 → XP_005273182.1  delta(14)-sterol reductase LBR isoform X2

    Conserved Domains (2) summary
    pfam09465
    Location:1 → 55
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:205 → 573
    PEMT; Phospholipid methyltransferase

  3. XM_047420377.1 → XP_047276333.1  delta(14)-sterol reductase LBR isoform X2

  4. XM_011544185.4 → XP_011542487.1  delta(14)-sterol reductase LBR isoform X1

    See identical proteins and their annotated locations for XP_011542487.1

    UniProtKB/Swiss-Prot
    B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6
    Conserved Domains (2) summary
    pfam09465
    Location:1 → 55
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:205 → 615
    PEMT; Phospholipid methyltransferase

  5. XM_047420386.1 → XP_047276342.1  delta(14)-sterol reductase LBR isoform X3

    Related
    ENSP00000499114.1, ENST00000651341.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    224589793..224617112 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336556.1 → XP_054192531.1  delta(14)-sterol reductase LBR isoform X2

  2. XM_054336555.1 → XP_054192530.1  delta(14)-sterol reductase LBR isoform X2

  3. XM_054336557.1 → XP_054192532.1  delta(14)-sterol reductase LBR isoform X2

  4. XM_054336554.1 → XP_054192529.1  delta(14)-sterol reductase LBR isoform X1

    UniProtKB/Swiss-Prot
    B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6

  5. XM_054336558.1 → XP_054192533.1  delta(14)-sterol reductase LBR isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14739.2 GenPept UniProtKB/Swiss-Prot:Q14739

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous