Gene Gene information from NCBI Gene database.
Entrez ID 3930
Gene name Lamin B receptor
Gene symbol LBR
Synonyms (NCBI Gene)
C14SRDHCR14BLMN2RPHAPHASKTDRD18
Chromosome 1
Chromosome location 1q42.12
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 t
SNPs SNP information provided by dbSNP.
16
SNP ID Visualize variation Clinical significance Consequence
rs148541545 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, non coding transcript variant
rs200180113 G>A Likely-pathogenic Missense variant, intron variant, coding sequence variant
rs374343844 T>A,C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs387906416 TAGAAGA>CTTCTAG Pathogenic Inframe indel, coding sequence variant, stop gained, non coding transcript variant
rs573510559 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
668
miRTarBase ID miRNA Experiments Reference
MIRT019632 hsa-miR-340-5p Sequencing 20371350
MIRT020277 hsa-miR-130b-3p Sequencing 20371350
MIRT021190 hsa-miR-186-5p Sequencing 20371350
MIRT022092 hsa-miR-128-3p Sequencing 20371350
MIRT025202 hsa-miR-181a-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 8157662
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 8663349, 26009488, 28514442, 28565870, 32296183, 32694168, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600024 6518 ENSG00000143815
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14739
Protein name Delta(14)-sterol reductase LBR (Delta-14-SR) (EC 1.3.1.70) (3-beta-hydroxysterol Delta (14)-reductase) (C-14 sterol reductase) (C14SR) (Integral nuclear envelope inner membrane protein) (LMN2R) (Lamin-B receptor) (Sterol C14-reductase)
Protein function Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role i
PDB 2DIG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09465 LBR_tudor 1 55 Lamin-B receptor of TUDOR domain Domain
PF01222 ERG4_ERG24 183 615 Ergosterol biosynthesis ERG4/ERG24 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the bone marrow, liver, heart, adrenal gland, lung, placenta and uterus (PubMed:16784888). Expressed in osteoclasts and osteoblast-like cells (PubMed:21327084). {ECO:0000269|PubMed:16784888, ECO:0000269|PubMed:21327084}.
Sequence
Sequence length 615
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid biosynthesis
Metabolic pathways
Cytoskeleton in muscle cells
  Cholesterol biosynthesis
Initiation of Nuclear Envelope (NE) Reformation
Regulation of MECP2 expression and activity
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
254
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Pathogenic rs374343844 RCV005893843
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia Pathogenic rs374343844, rs869312905 RCV000210471
RCV000210455
Greenberg dysplasia Likely pathogenic; Pathogenic rs587777171, rs587777172, rs863223326, rs886037655, rs2150958142, rs2150945343, rs374343844, rs869312905, rs387906416, rs754049402, rs573510559 RCV000087263
RCV000087264
RCV000087265
RCV000087267
RCV001824087
RCV001824088
RCV001250665
RCV001250666
RCV000010137
RCV005860087
RCV003163026
Jeune thoracic dystrophy Likely pathogenic; Pathogenic rs754049402, rs1236962991 RCV000516056
RCV000515924
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign; Conflicting classifications of pathogenicity rs116020594, rs201212744, rs1216210580 RCV005915315
RCV005911911
RCV005903070
Cholangiocarcinoma Benign rs116020594, rs79557502 RCV005915321
RCV005920532
Colorectal cancer Likely benign rs78306811 RCV005871376
Connective tissue disorder Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs773644529, rs1165682529, rs201609720, rs80299691, rs61749338, rs2230416, rs112582692, rs2230422, rs61749339, rs377110126, rs143164834, rs151100686, rs146953852, rs369094974, rs565288775
View all (1 more)
RCV002278768
RCV002278769
RCV002278770
RCV002277584
RCV002278377
RCV002278381
RCV002278378
RCV002278379
RCV002278380
RCV002279263
RCV002279291
RCV002279616
RCV002279619
RCV002279632
RCV002279680
RCV002276624
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 6334551
Bone Diseases Developmental Associate 25348816
Breast Neoplasms Associate 24293108, 27246191, 30484986
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 27336722
Death Associate 19940018
Diabetes Mellitus Associate 26489030
Diabetes Mellitus Type 2 Associate 10433077
Glomerulonephritis IGA Stimulate 2785227
HEM dysplasia Associate 12618959, 19940018, 27336722, 30561119
Hepatitis B Associate 19940018, 30518689