DNAAF5 - dynein axonemal assembly factor 5 Gene

Also Known as CILD18; HEATR2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54919

About DNAAF5

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:726,699-786,475 (from NCBI)

This gene has 8 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 5.5), colon (RPKM 5.1) and 25 other tissues.

Summary

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

DNAAF5 Products (1)

mRNA	Protein	Name
NM_017802.4	NP_060272.3	dynein axonemal assembly factor 5

DNAAF5 Protein Structure

HEAT_2

HEAT

0
200
400
600
800
855 a.a.

Protein Preferred Names	Protein Names
dynein axonemal assembly factor 5	HEAT repeat containing 2

Related Diseases

Diseases	Alias
Ciliary Dyskinesia, Primary, 18	CILD18 Primary Ciliary Dyskinesia 18 Primary Ciliary Dyskinesia 18 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 18, With Or Without Situs Inversus Ics18 Immotile Cilia Syndrome 18 Dyskinesia, Ciliary, Primary, 18
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
Joubert Syndrome 25	JBTS25 Joubert Syndrome, Type 25
Kartagener Syndrome	Kartagener'S Syndrome
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
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
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
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
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-RS03841	DNAAF5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DNAAF5	VGNC	VGNC:61540
Mus musculus	DNAAF5	MGD	MGI:3616079
Canis familiaris	DNAAF5	VGNC	VGNC:40010
Macaca mulatta	DNAAF5	VGNC	VGNC:71907
Rattus norvegicus	DNAAF5	RGD	RGD:1566028
Bos taurus	DNAAF5	VGNC	VGNC:28121
Others	DNAAF5	NCBI