Gene

klhl40b

ID
ZDB-GENE-060227-1
Name
kelch-like family member 40b
Symbol
klhl40b Nomenclature History
Previous Names
  • kbtbd5b
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Involved in skeletal muscle fiber development and swimming. Predicted to localize to Cul3-RING ubiquitin ligase complex and cytoplasm. Human ortholog(s) of this gene implicated in nemaline myopathy 8. Is expressed in eye; fin; skeletal muscle; and somite. Orthologous to human KLHL40 (kelch like family member 40).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Ravenscroft et al., 2013
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Ravenscroft et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With klhl40b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
nemaline myopathy 8 Alliance Nemaline myopathy 8, autosomal recessive 615348
Associated With klhl40b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA klhl40b-201 (1) Ensembl 1,904 nt
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