Homo sapiens Gene: LBR
Summary
InnateDB Gene IDBG-106939.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LBR
Gene Name lamin B receptor
Synonyms DHCR14B; LMN2R; PHA; TDRD18
Species Homo sapiens
Ensembl Gene ENSG00000143815
Encoded Proteins
lamin B receptor
lamin B receptor
lamin B receptor
lamin B receptor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:225401502-225428925
Strand Reverse strand
Band q42.12
Transcripts
ENST00000272163 ENSP00000272163
ENST00000338179 ENSP00000339883
ENST00000441022
ENST00000424022
ENST00000425080 ENSP00000388059
ENST00000421383 ENSP00000416554
ENST00000487054
ENST00000488632
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 36 [view]
Protein-Protein 35 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0005521 lamin binding
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0044822 poly(A) RNA binding
GO:0070087 chromo shadow domain binding
Biological Process
GO:0006695 cholesterol biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005635 nuclear envelope
GO:0005639 integral component of nuclear inner membrane
GO:0005739 mitochondrion
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Cholesterol biosynthesis pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.435166 Hs.713885 Hs.735694
RefSeq NM_002296 NM_194442
HUGO
OMIM
CCDS CCDS1545
HPRD 02488
IMGT
EMBL
GenPept
RNA Seq Atlas