RSPH9 - radial spoke head component 9 Gene

Homo sapiens

Also known as CILD12; C6orf206; MRPS18AL1

Gene ID: 221421 | Gene type: protein coding

About RSPH9

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,645,036-43,672,600 (from NCBI)

This gene has 2 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 11.2), lung (RPKM 1.7) and 1 other tissue.

Summary

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

RSPH9 Products(2)

mRNA	Protein	Name
NM_001193341.2	NP_001180270.1	radial spoke head protein 9 homolog isoform 2
NM_152732.5	NP_689945.2	radial spoke head protein 9 homolog isoform 1

RSPH9 Protein Structure

Radial_spoke

0
100
200
276 a.a.

Protein Preferred Names

Protein Names

radial spoke head protein 9 homolog

radial spoke head 9 homolog

Related Diseases

Diseases

Alias

Ciliary Dyskinesia, Primary, 12

CILD12	Primary Ciliary Dyskinesia 12
Primary Ciliary Dyskinesia 12 Without Situs Inversus	Ciliary Dyskinesia, Primary, 12, Without Situs Inversus
Ics12	Immotile Cilia Syndrome 12
Dyskinesia, Ciliary, Primary, Type 12

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

Kartagener Syndrome

Kartagener'S Syndrome

Ciliary Dyskinesia, Primary, 10

Primary Ciliary Dyskinesia 10	CILD10
Primary Ciliary Dyskinesia 10 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 10, With Or Without Situs Inversus
Ics10	Immotile Cilia Syndrome 10
Dyskinesia, Ciliary, Primary, 10

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Ciliary Dyskinesia, Primary, 6

Primary Ciliary Dyskinesia 6	CILD6
Ics6	Immotile Cilia Syndrome 6
Dyskinesia, Ciliary, Primary, 6

Otorrhea

Discharging Ear

Ciliary Dyskinesia, Primary, 1

CILD1	Pcd
Primary Ciliary Dyskinesia 1	Kartagener Syndrome
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Immotile Cilia Syndrome
Ics	Polynesian Bronchiectasis
Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus	Ics1
Immotile Cilia Syndrome 1	Primary Ciliary Dyskinesia
KTGS	Dextrocardia-Bronchiectasis-Sinusitis Syndrome
Immotile Cilia Syndrome Kartagener Type	Primary Ciliary Dyskinesia Kartagener Type
Siewert Syndrome	Immotile Cilia
Dyskinesia, Ciliary, Primary, Type 1	Ciliary Motility Disorders

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

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

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

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-RS12304	RSPH9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RSPH9	VGNC	VGNC:64795
Rattus norvegicus	RSPH9	RGD	RGD:1310693
Macaca mulatta	RSPH9	VGNC	VGNC:77072
Bos taurus	RSPH9	VGNC	VGNC:34187
Mus musculus	RSPH9	MGD	MGI:1922814
Canis familiaris	RSPH9	VGNC	VGNC:57231

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