Gene

dnaaf19

ID

ZDB-GENE-040718-253

Name

dynein axonemal assembly factor 19

Symbol

dnaaf19 Nomenclature History

Previous Names

ccdc103
smh (1)
zgc:100838 (1)

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Acts upstream of or within axonemal dynein complex assembly; cerebrospinal fluid circulation; and embryonic heart tube morphogenesis. Located in axoneme. Is expressed in several structures, including Kupffer's vesicle; anterior lateral plate mesoderm; forerunner cell group; otic placode; and peripheral olfactory organ. Used to study primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 17. Orthologous to human CCDC103 (coiled-coil domain containing 103).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 2 publications

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: 15 figures from 7 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dnaaf19 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
primary ciliary dyskinesia 17	Alliance	Ciliary dyskinesia, primary, 17	614679

Associated With dnaaf19 Via Experimental Models

Human Disease	Fish	Conditions	Citations
primary ciliary dyskinesia	dnaaf19^{tn222a/tn222a}	standard conditions	(2)

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR025986	RNA-polymerase II-associated protein 3-like, C-terminal domain
Domain	IPR031733	Dynein attachment factor, N-terminal
Family	IPR042422	Coiled-coil domain-containing protein 103