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Lbr
Gene Detail
Symbol

Name
ID
Lbr
lamin B receptor
MGI:2138281
Feature Type
protein coding gene
Genetic Map
Chromosome 1
84.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr1:181815315-181842401 bp, - strand
From NCBI annotation of GRCm38

  27087 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2455  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: sterol reductase, SR-2 type
Gene Tree: Lbr

Human
homologs
Human Homolog   LBR, lamin B receptor
NCBI Gene ID 3930
neXtProt AC  NX_Q14739
Human Synonyms  DHCR14B, LMN2R, PHA, TDRD18
Human Chr (Location)  1q42.1; chr1:225401502-225428855 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human LBR
Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Chemically induced (ENU)(1) Gene trapped(21) Spontaneous(6) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this gene result in abnormal skin and hair and impair growth.
 
Human Diseases Modeled in Mice Using Lbr (2)    Mutations Annotated to Human Diseases (1)   
Interactions
Lbr interacts with 241 markers (Mir1b, Mir7-1, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process oxidation-reduction process
Component cytoplasm, integral component of membrane, ...
Function chaperone binding, chromo shadow domain binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (39)    Tissues (39)    Tissue x Stage Matrix (view)
Assay TypeResults
In situ reporter (knock in) 11
Northern blot 28
cDNA source data(175)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(175) cDNA(175)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000004880 (Evidence)
Entrez Gene98386 (Evidence)
UniGene4538
DFCITC1573553
DoTSDT.493288, DT.91403818, DT.99862438
NIA Mouse Gene IndexU022155
Consensus CDS ProjectCCDS15584.1
International Mouse Knockout Project StatusLbr
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 98386 NCBI Gene Model | MGI Sequence Detail 27087 C57BL/6J ±  kb
transcript NM_133815 RefSeq | MGI Sequence Detail 3568 C57BL/6 
polypeptide Q3U9G9 UniProt | EBI | MGI Sequence Detail 626 Not Applicable 

For the selected sequences
All sequences(50) RefSeq(6) UniProt(1)
Polymorphisms
SNPs within 2kb(79 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001171 Ergosterol biosynthesis ERG4/ERG24
InterPro IPR019023 Lamin-B receptor of TUDOR domain
InterPro IPR018083 Sterol reductase, conserved site
InterPro IPR002999 Tudor domain
Protein Ontology PR:000009692 lamin-B receptor
Graphical View of Protein Domain Structure
References
(Earliest) J:64274 Carter TC, et al., ic - ichthyosis. Mouse News Lett. 1949;1S:1
(Latest) J:193454 Solovei I, et al., LBR and Lamin A/C Sequentially Tether Peripheral Heterochromatin and Inversely Regulate Differentiation. Cell. 2013 Jan 31;152(3):584-98
All references(68)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-11144, MGI:96390

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory