Gene

klhl40a

ID

ZDB-GENE-050916-1

Name

kelch-like family member 40a

Symbol

klhl40a Nomenclature History

Previous Names

kbtbd5
kbtbd5a

Type

protein_coding_gene

Location

Chr: 2 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 several structures, including eye; heart; integument; 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Ravenscroft et al., 2013
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With klhl40a 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 klhl40a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000210	BTB/POZ domain
Domain	IPR011705	BTB/Kelch-associated
Domain	IPR030607	Kelch-like protein 40, BTB/POZ domain
Family	IPR017096	BTB-kelch protein
Homologous_superfamily	IPR011333	SKP1/BTB/POZ domain superfamily
Homologous_superfamily	IPR015915	Kelch-type beta propeller
Repeat	IPR006652	Kelch repeat type 1