RSPH9 (radial spoke head component 9)

Gene

• Entrez ID: 221421
• Gene name: Radial spoke head component 9
• Gene symbol: RSPH9
• Synonyms (NCBI Gene): C6orf206, CILD12, MRPS18AL1
• Chromosome: 6
• Chromosome location: 6p21.1
• 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 b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs376496894	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397515488	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs775136764	T>A,C,G	Likely-pathogenic	Intron variant
rs1057520543	T>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1233811324	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1436804091	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs1582373132	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017711	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001534	Component	Radial spoke	IEA
GO:0001535	Component	Radial spoke head	IEA
GO:0001535	Component	Radial spoke head	ISS
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	19200523
GO:0005515	Function	Protein binding	IPI	25416956, 27173435, 28514442, 33961781, 38091523
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IC	19200523
GO:0005930	Component	Axoneme	IDA	26909801
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IC	19200523
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0035082	Process	Axoneme assembly	IBA
GO:0035082	Process	Axoneme assembly	IEA
GO:0035082	Process	Axoneme assembly	IMP	19200523
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IBA
GO:0060091	Component	Kinocilium	IEA
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0062177	Process	Radial spoke assembly	IEA
GO:0062177	Process	Radial spoke assembly	ISS
GO:0097729	Component	9+2 motile cilium	IDA	26909801
GO:0097729	Component	9+2 motile cilium	IEA
GO:0097729	Component	9+2 motile cilium	ISS
GO:0120336	Component	Radial spoke head 1	IEA
GO:0120338	Component	Radial spoke head 3	IEA
GO:1904158	Process	Axonemal central apparatus assembly	IEA
GO:1904158	Process	Axonemal central apparatus assembly	ISS

Other IDs

• MIM: 612648
• HGNC: 21057
• e!Ensembl: ENSG00000172426

Protein

• UniProt ID: Q9H1X1
• Protein name: Radial spoke head protein 9 homolog
• Protein function: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia (PubMed:19200523). Essential for both the radial spoke head assembly and the central pair microtubule stability in ependymal moti
• PDB: 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04712	Radial_spoke	191 → 276	Radial spokehead-like protein	Family

• Sequence:

  MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIA
  QGLSEDQLAPRKTLYSLNCTEWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVN
  EGEKVFEEEIVVQIKEETRLVSVIDQIDKAVAIIPRGALFKTPFGPTHVNRTFEGLSLSE
  AKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGSWSIQMERGNALVVLR
  SLLWPGLTFYHAPRTKNYGYVYVGTGEKNMDLPFML

• Sequence length: 276

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs1771335561, rs2127911266, rs1395940101, rs2127891310, rs775745422, rs775136764, rs376496894, rs1233811324, rs1436804091, rs1582373132, rs1554149875, rs397515340, rs1054247330, rs762292335	RCV002596016 RCV001387435 RCV003538815 RCV001849609 RCV001911254 RCV003650026 RCV000548387 RCV001854108 RCV000629323 RCV000705479 RCV000792840 RCV000803010 RCV000234192 RCV001204684 RCV001206944	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 12	Likely pathogenic; Pathogenic	rs397515340, rs397515488	RCV000057516 RCV000057517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RSPH9-related disorder	Pathogenic	rs775745422	RCV004757490	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 12	—	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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26575865		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	22384920	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	GENOMICS_ENGLAND_DG			★☆☆☆☆ 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
Carcinoma	Carcinoma	BEFREE	25575132		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26575865		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic rhinitis	Rhinitis	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	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 12	Ciliary dyskinesia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 12	Ciliary dyskinesia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 12	Ciliary dyskinesia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	19200523, 22384920, 23993197, 24307375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	20070851, 22384920, 25789548, 33577779	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ 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
Cystic Fibrosis	Cystic fibrosis	Pubtator	22384920	Associate	★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	BEFREE	22384920		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	19200523, 20070851, 22384920, 31285900		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26575865		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	31798623		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30935420	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	19200523, 20070851, 22384920, 22448264, 25789548, 31285900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	22448264		★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only