RSPH4A - radial spoke head component 4A Gene

Homo sapiens

Also known as RSHL3; CILD11; RSPH6B; dJ412I7.1

Gene ID: 345895 | Gene type: protein coding

About RSPH4A

Cytogenetic location: 6q22.1 Genomic coordinates (GRCh38): 6:116,616,479-116,632,985 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in lung (RPKM 1.6), testis (RPKM 0.8) and 13 other tissues.

Summary

This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

RSPH4A Products(2)

mRNA	Protein	Name
NM_001010892.3	NP_001010892.1	radial spoke head protein 4 homolog A isoform 1
NM_001161664.2	NP_001155136.1	radial spoke head protein 4 homolog A isoform 2

RSPH4A Protein Structure

Radial_spoke

0
200
400
600
716 a.a.

Protein Preferred Names

Protein Names

radial spoke head protein 4 homolog A

radial spoke head 4 homolog A

Related Diseases

Diseases

Alias

Ciliary Dyskinesia, Primary, 11

CILD11	Primary Ciliary Dyskinesia 11
Primary Ciliary Dyskinesia 11 Without Situs Inversus	Ciliary Dyskinesia, Primary, 11, Without Situs Inversus
Ics11	Immotile Cilia Syndrome 11
Dyskinesia, Ciliary, Primary, 11

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, 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

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

Chromosome 17q12 Duplication Syndrome

17q12 Microduplication Syndrome	Trisomy 17q12
17q12 Duplication	17q12 Microduplication
Dup(17)(Q12)	Recurrent Duplication Of 17q12
17q12 Duplication Syndrome	17q12 Recurrent Duplication

Ciliary Dyskinesia, Primary, 6

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

Otorrhea

Discharging Ear

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

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

Mastoiditis

Mastoiditis Nec

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia	Yunis Varon Syndrome
YVS	Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia	Yunis-Varón 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-RS12303	RSPH4A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RSPH4A	VGNC	VGNC:64793
Macaca mulatta	RSPH4A	VGNC	VGNC:77078
Mus musculus	RSPH4A	MGD	MGI:3027894
Rattus norvegicus	RSPH4A	RGD	RGD:1307229
Canis familiaris	RSPH4A	VGNC	VGNC:45780
Bos taurus	RSPH4A	VGNC	VGNC:34185

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