Gene

lemd3

ID
ZDB-GENE-030131-490
Name
LEM domain containing 3
Symbol
lemd3 Nomenclature History
Previous Names
  • im:7158446
  • si:dkey-6a5.6
  • wu:fb34b12
Type
protein_coding_gene
Location
Chr: 4 Mapping Details/Browsers
Description
Predicted to have chromatin DNA binding activity. Involved in cerebellum vasculature development. Predicted to localize to integral component of nuclear inner membrane. Used to study arteriovenous malformations of the brain. Human ortholog(s) of this gene implicated in Buschke-Ollendorff syndrome. Orthologous to human LEMD3 (LEM domain containing 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Wang et al., 2018
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With lemd3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Buschke-Ollendorff syndrome Alliance Buschke-Ollendorff syndrome 166700
Buschke-Ollendorff syndrome Alliance Osteopoikilosis with or without melorheostosis 166700
Associated With lemd3 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003887 LEM domain
Domain IPR018996 Man1/Src1, C-terminal
Domain IPR034394 MAN1, RNA recognition motif
Family IPR034997 Inner nuclear membrane protein Man1
Homologous_superfamily IPR011015 LEM/LEM-like domain superfamily
Homologous_superfamily IPR012677 Nucleotide-binding alpha-beta plait domain superfamily
Homologous_superfamily IPR035979 RNA-binding domain superfamily
Homologous_superfamily IPR041885 MAN1, winged-helix domain
Domain Details Per Protein
Protein Length Inner nuclear membrane protein Man1 LEM domain LEM/LEM-like domain superfamily MAN1, RNA recognition motif Man1/Src1, C-terminal MAN1, winged-helix domain Nucleotide-binding alpha-beta plait domain superfamily RNA-binding domain superfamily
UniProtKB:B3DIX5 812
UniProtKB:Q5TZH9 841
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