Gene

ccdc40

ID

ZDB-GENE-060503-723

Name

coiled-coil domain 40 molecular ruler complex subunit

Symbol

ccdc40 Nomenclature History

Previous Names

im:7149866
lok
si:dkey-237i9.5
wu:fb11d02

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Involved in epithelial cilium movement involved in determination of left/right asymmetry. Acts upstream of or within several processes, including axoneme assembly; determination of heart left/right asymmetry; and epithelial cilium movement involved in extracellular fluid movement. Located in extracellular region. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; nervous system; pronephric duct; and pronephric mesoderm. Used to study primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 15. Orthologous to human CCDC40 (coiled-coil domain 40 molecular ruler complex subunit).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7149866 (20 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 21 figures from 8 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ccdc40 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
primary ciliary dyskinesia 15	Alliance	Ciliary dyskinesia, primary, 15	613808

Associated With ccdc40 Via Experimental Models

Human Disease	Fish	Conditions	Citations
primary ciliary dyskinesia	ccdc40^{to237b/to237b}	standard conditions	Song et al., 2016

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR037386	Coiled-coil domain-containing protein 40

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:Q56A40	InterPro	941
UniProtKB:A0A8M3B0F1	InterPro	933
UniProtKB:A0AB32TPW0	InterPro	887

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	ccdc40-202 (1) Ensembl	Ensembl		3,370 nt	Select Tool ZFIN BLAST
ncRNA	ottdart00000054945 (1) Ensembl	Ensembl		583 nt	Select Tool ZFIN BLAST

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