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LBR lamin B receptor [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu03895 NM_002296 Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu03895 NM_194442 Homo sapiens lamin B receptor (LBR), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu35022 XM_005273125 PREDICTED: Homo sapiens lamin B receptor (LBR), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu03895C NM_002296 Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00
OHu03895C NM_194442 Homo sapiens lamin B receptor (LBR), transcript variant 2, mRNA. Customized vector In-stock 5-7 $149.00
OHu35022C XM_005273125 PREDICTED: Homo sapiens lamin B receptor (LBR), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00

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Gene Symbol LBR
Entrez Gene ID 3930
Full Name lamin B receptor
Synonyms DHCR14B, LMN2R, PHA, TDRD18
General protein information
Preferred Names
lamin-B receptor
Names
lamin-B receptor
tudor domain containing 18
integral nuclear envelope inner membrane protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q42.1

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].
Disorder

MIM: 600024

Pelger-Huet anomaly, 169400 (3); HEM skeletal dysplasia, 215140 (3);

mRNA Protein Product Sequence Price Select
NM_002296, 328447199 NP_002287, 37595750 lamin-B receptor ORF Sequence $490.00
NM_194442, 328447198 NP_919424, 37595752 lamin-B receptor ORF Sequence $490.00
XM_005273125, 530366189 XP_005273182, 530366190 lamin-B receptor isoform X1 ORF Sequence $700.00
WikiPathways
WP2363Gastric cancer network 2
BIOCYC
META_PWY66-341cholesterol biosynthesis I
META_PWY66-5superpathway of cholesterol biosynthesis
META_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
META_PWY66-4cholesterol biosynthesis III (via desmosterol)
HUMAN_PWY66-5superpathway of cholesterol biosynthesis
HUMAN_PWY66-341cholesterol biosynthesis I
HUMAN_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
HUMAN_PWY66-4cholesterol biosynthesis III (via desmosterol)
HUMAN_PWY-6074zymosterol biosynthesis
Reactome
REACT_9405Cholesterol biosynthesis
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
Homo sapiens (human)LBRNP_919424.1
Pan troglodytes (chimpanzee)LBRXP_001137563.1
Macaca mulatta (Rhesus monkey)LBRXP_001094360.1
Canis lupus familiaris (dog)LBRXP_547512.2
Bos taurus (cattle)LBRNP_001093799.1
Mus musculus (house mouse)LbrNP_598576.2
Rattus norvegicus (Norway rat)LbrNP_604448.1
Gallus gallus (chicken)LBRNP_990673.1
Danio rerio (zebrafish)lbrNP_001002720.1
Drosophila melanogaster (fruit fly)LBRNP_726115.1
Process
IDNameEvidence
GO:0006695cholesterol biosynthetic processTAS
GO:0044281small molecule metabolic processTAS
GO:0055114oxidation-reduction processIEA
Component
IDNameEvidence
GO:0005635nuclear envelopeTAS
GO:0005639integral component of nuclear inner membraneTAS
GO:0005739mitochondrionIDA
GO:0016020membraneIDA
GO:0016021integral component of membraneIDA
GO:0031965nuclear membraneIDA
Function
IDNameEvidence
GO:0003677DNA bindingIEA
GO:0005515protein bindingIPI
GO:0005521lamin bindingTAS
GO:0016628oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptorIEA
GO:0044822poly(A) RNA bindingIDA
GO:0070087chromo shadow domain bindingIPI
GeneCards LBR
PDB 2DIG
UniProt Q14739
Vega OTTHUMG00000037520
MIM 600024
Ensembl ENSG00000143815
HGNC 6518
HPRD 02488

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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