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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
Chr1:181815316-181842401 bp, - strand
From Ensembl annotation of GRCm38

  27086 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
Alleles
and
phenotypes
All alleles(30) : Targeted(2) Gene trapped(21) Spontaneous(6) Chemically induced(1)
 
Mutations in this gene result in abnormal skin and hair and impair growth.
 
Human Diseases Modeled Using Mouse Lbr (2)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process oxidation-reduction process
Component integral component of membrane, membrane, ...
Function chromo shadow domain binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (39)    Tissues (39)   
Theiler Stages: 6, 8, 9, 11, 13, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
In situ reporter (knock in) 11
Northern blot 28
cDNA source data(175)
External Resources: Allen Institute   GEO   ArrayExpress
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 ENSMUSG00000004880 Ensembl Gene Model | MGI Sequence Detail 27086 C57BL/6J ±  kb
transcript ENSMUST00000005003 Ensembl | MGI Sequence Detail 3551 Not Applicable 
polypeptide ENSMUSP00000005003 Ensembl | MGI Sequence Detail 626 Not Applicable 

For the selected sequences
All sequences(38) 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
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)
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
04/15/2014
MGI 5.17
The Jackson Laboratory