DNAAF3 - dynein axonemal assembly factor 3 Gene

Also Known as PCD; DAB1; PF22; CILD2; C19orf51

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 352909

About DNAAF3

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,158,661-55,166,722 (from NCBI)

This gene has 17 transcripts (splice variants), 173 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in testis (RPKM 22.9), heart (RPKM 3.1) and 1 other tissue.

Summary

The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

DNAAF3 Products (4)

mRNA	Protein	Name
NM_001256714.1	NP_001243643.1	dynein axonemal assembly factor 3 isoform 1
NM_001256715.2	NP_001243644.1	dynein axonemal assembly factor 3 isoform 3
NM_001256716.2	NP_001243645.1	dynein axonemal assembly factor 3 isoform 4
NM_178837.4	NP_849159.2	dynein axonemal assembly factor 3 isoform 2

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in axonemal dynein complex assembly	IMP IMP: Inferred from mutant phenotype	22387996	GOA
involved in motile cilium assembly	IMP IMP: Inferred from mutant phenotype	22387996	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNAAF3 Protein Structure

DUF4470

DUF4471

0
100
200
300
400
500
541 a.a.

Protein Preferred Names	Protein Names
dynein axonemal assembly factor 3	UPF0470 protein C19orf51

Related Diseases

Diseases	Alias
Ciliary Dyskinesia, Primary, 2	Primary Ciliary Dyskinesia 2 CILD2 Primary Ciliary Dyskinesia 2 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 2, With Or Without Situs Inversus Ics2 Immotile Cilia Syndrome 2 Dyskinesia, Ciliary, Primary, 2
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Ciliary Dyskinesia, Primary, 38	CILD38 Ciliary Dyskinesia, Primary, 38, With Or Without Situs Inversus Primary Ciliary Dyskinesia 38 Primary Ciliary Dyskinesia 38 With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 26	Primary Ciliary Dyskinesia 26 CILD26 Primary Ciliary Dyskinesia 26 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 26, With Or Without Situs Inversus Dyskinesia, Ciliary, Primary, 26
Kartagener Syndrome	Kartagener'S Syndrome
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Ciliary Dyskinesia, Primary, 28	Primary Ciliary Dyskinesia 28 CILD28 Primary Ciliary Dyskinesia 28 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 28, With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 28, Without Situs Inversus Dyskinesia, Ciliary, Primary, 28
Pulmonary Subvalvular Stenosis	Pulmonary Infundibular Stenosis Congenital Infundibular Stenosis Infundibular Pulmonic Stenosis Infundibular Pulmonic Stenosis, Congenital Subvalvular Pulmonic Stenosis
Dextrocardia	Heart Predominantly In Right Hemithorax Heart In Right Chest Right-Sided Heart Congenital Dextrocardia Of Heart Transposition Of Heart
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Paranasal Sinus Disease	Paranasal Sinus Diseases Disorder Of Nasal Sinus
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03840	DNAAF3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DNAAF3	RGD	RGD:2323487
Canis familiaris	DNAAF3	VGNC	VGNC:53690
Mus musculus	DNAAF3	MGD	MGI:3588207
Others	DNAAF3	NCBI