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Gene

lbr

ID
ZDB-GENE-030804-11
Name
lamin B receptor
Symbol
lbr Nomenclature History
Previous Names
  • sb:cb406
  • wu:fb75h08
  • wu:fc47b04
  • wu:fd36b07
  • zgc:86649
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Predicted to enable oxidoreductase activity, acting on the CH-CH group of donors. Acts upstream of or within cell migration involved in gastrulation. Located in nuclear inner membrane. Is expressed in several structures, including hypochord; nervous system; neural plate; optic vesicle; and tail bud. Human ortholog(s) of this gene implicated in Greenberg dysplasia; Pelger-Huet anomaly; and primary biliary cholangitis. Orthologous to human LBR (lamin B receptor).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
12 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With lbr Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Greenberg dysplasia Alliance Greenberg skeletal dysplasia 215140
Pelger-Huet anomaly Alliance Pelger-Huet anomaly 169400
Pelger-Huet anomaly with mild skeletal anomalies 618019
?Reynolds syndrome 613471
Associated With lbr Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018083 Sterol reductase, conserved site
Domain IPR019023 Lamin-B receptor of TUDOR domain
Family IPR001171 Ergosterol biosynthesis ERG4/ERG24
Domain Details Per Protein
Protein Length Ergosterol biosynthesis ERG4/ERG24 Lamin-B receptor of TUDOR domain Sterol reductase, conserved site
UniProtKB:Q4GXW4 616
UniProtKB:Q6DI34 619
UniProtKB:Q5RJ97 619
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations