Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3930
Gene name Gene Name - the full gene name approved by the HGNC.
Lamin B receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LBR
Synonyms (NCBI Gene) Gene synonyms aliases
C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.12
Summary Summary of gene provided in NCBI Entrez 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 t
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600024 6518 ENSG00000143815
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Greenberg Dysplasia greenberg dysplasia rs587777171, rs587777172, rs863223326, rs886037655, rs374343844, rs869312905, rs573510559, rs387906416 N/A
Jeune Thoracic Dystrophy jeune thoracic dystrophy rs754049402, rs1236962991 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Connective Tissue Disease Connective tissue disorder N/A N/A ClinVar
Regressive spondylometaphyseal dysplasia regressive spondylometaphyseal dysplasia N/A N/A GenCC
Associations from Text Mining Disease 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