DNAAF3 - dynein axonemal assembly factor 3 Gene

Homo sapiens

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

Gene ID: 352909 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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