DNAAF5 - dynein axonemal assembly factor 5 Gene

Homo sapiens

Also known as CILD18; HEATR2

Gene ID: 54919 | Gene type: protein coding

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03841	DNAAF5 Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.