RSPH9 (radial spoke head component 9)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 221421
Gene name Radial spoke head component 9
Gene symbol RSPH9
Synonyms (NCBI Gene)
C6orf206CILD12MRPS18AL1
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 information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
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
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT017711 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (36)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612648 21057 ENSG00000172426
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
170
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
Primary ciliary dyskinesia 12 Likely pathogenic; Pathogenic rs397515340, rs397515488 RCV000057516
RCV000057517
RSPH9-related disorder Pathogenic rs775745422 RCV004757490
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bronchiectasis Associate 22384920
Carcinoma Non Small Cell Lung Associate 31886214
Ciliary Motility Disorders Associate 20070851, 22384920, 25789548, 33577779
Cystic Fibrosis Associate 22384920
Immotile cilia syndrome due to defective radial spokes Associate 25789548
Nasopharyngeal Carcinoma Associate 30935420