Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	83861
Gene name	Radial spoke head 3
Gene symbol	RSPH3
Synonyms (NCBI Gene)	CILD32RSHL2RSP3dJ111C20.1
Chromosome	6
Chromosome location	6q25.3
Summary	The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was fir

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142800871	T>C	Pathogenic	Intron variant, splice acceptor variant
rs760122351	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant, intron variant
rs796052117	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs796052118	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs796052119	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs875989825	CATT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1158185476	G>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs1554289977	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant

124

Show/Hide all (124)

miRTarBase ID	miRNA	Experiments	Reference
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT678389	hsa-miR-5693	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619395	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619392	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT678388	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT646139	hsa-miR-4634	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT678387	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619388	hsa-miR-498	HITS-CLIP	23824327
MIRT678386	hsa-miR-5698	HITS-CLIP	23824327
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619395	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619392	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT619391	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619392	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT619391	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619388	hsa-miR-498	HITS-CLIP	23824327
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619391	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT646139	hsa-miR-4634	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619388	hsa-miR-498	HITS-CLIP	23824327
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619395	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619392	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT619391	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619388	hsa-miR-498	HITS-CLIP	23824327
MIRT528869	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT678389	hsa-miR-5693	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619395	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619392	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT678388	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT646139	hsa-miR-4634	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT678387	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619388	hsa-miR-498	HITS-CLIP	23824327
MIRT678386	hsa-miR-5698	HITS-CLIP	23824327
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619395	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619392	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT619391	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619392	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT619391	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619388	hsa-miR-498	HITS-CLIP	23824327
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619391	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT646139	hsa-miR-4634	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619388	hsa-miR-498	HITS-CLIP	23824327
MIRT619399	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT619398	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT619397	hsa-miR-1281	HITS-CLIP	23824327
MIRT619396	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT619395	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT619394	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT619393	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT619392	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT619391	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT619390	hsa-miR-4284	HITS-CLIP	23824327
MIRT619389	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT619388	hsa-miR-498	HITS-CLIP	23824327
MIRT528869	hsa-miR-548c-3p	PAR-CLIP	22012620

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001535	Component	Radial spoke head	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 37804054
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	27120127
GO:0005929	Component	Cilium	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0097729	Component	9+2 motile cilium	ISS

MIM	HGNC	e!Ensembl
615876	21054	ENSG00000130363

Q86UC2

Protein name

Radial spoke head protein 3 homolog (A-kinase anchor protein RSPH3) (Radial spoke head-like protein 2)

Protein function

Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia (By similarity). Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. M

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06098	Radial_spoke_3	188 → 470	Radial spoke protein 3	Family

Sequence

MTVKPAKAASLARNLAKRRRTYLGGAAGRSQEPEVPCAAVLPGKPGDRNCPEFPPPDRTL
GCWATDAAPAAGLCGAGSEPSIAPTSCAGNLPSRPPPLLSPLLASRNPCPWHYLHLSGSH
NTLAPTCFKAKLHRKRGSQPPDMASALTDRTSRAPSTYTYTSRPRALPCQRSRYRDSLTQ
PDEEPMHYGNIMYDRRVIRGNTYALQTGPLLGRPDSLELQRQREARKRALARKQAQEQLR
PQTPEPVEGRKHVDVQTELYLEEIADRIIEVDMECQTDAFLDRPPTPLFIPAKTGKDVAT
QILEGELFDFDLEVKPVLEVLVGKTIEQSLLEVMEEEELANLRASQREYEELRNSERAEV
QRLEEQERRHREEKERRKKQQWEIMHKHNETSQKIAARAFAQRYLADLLPSVFGSLRDSG
YFYDPIERDIEIGFLPWLMNEVEKTMEYSMVGRTVLDMLIREVVEKRLCMYEHGEDTHQS
PEPEDEPGGPGAMTESLEASEFLEQSMSQTRELLLDGGYLQRTTYDRRSSQERKFMEERE
LLGQDEETAMRKSLGEEELS

Sequence length

560

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clear cell carcinoma of kidney	Pathogenic	rs142800871	RCV005892221	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs758891825	RCV005935037	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia 32	Pathogenic; Likely pathogenic	rs752134900, rs751193355, rs767979912, rs1778794132, rs1443891718, rs374014611, rs775284185, rs758891825, rs2128607933, rs1350940598, rs796052117, rs796052118, rs875989825, rs796052119, rs142800871 View all (8 more)	RCV001333303 RCV001733739 RCV003756292 RCV001970132 RCV001949214 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RSPH3-related disorder	Pathogenic; Likely pathogenic	rs142800871, rs765099471	RCV004757155 RCV003969867	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 32	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia	Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35524249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	34573389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	26073779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	26073779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 32	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	26073779		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 32	Ciliary dyskinesia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 32	Ciliary dyskinesia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	26073779, 32124190, 35524249	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	32124190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	26073779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	32124190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32124190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	26073779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	26073779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35524249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	26073779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	26073779		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	26073779		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RSPH3 (radial spoke head 3)