RSPH9 (radial spoke head component 9)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
221421
Gene name Gene Name - the full gene name approved by the HGNC.
Radial spoke head component 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RSPH9
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf206, CILD12, MRPS18AL1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CILD12
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0001534 Component Radial spoke IEA
GO:0003341 Process Cilium movement IMP 19200523
GO:0005515 Function Protein binding IPI 25416956, 27173435, 28514442
GO:0005930 Component Axoneme IBA 21873635
GO:0005930 Component Axoneme IC 19200523
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612648 21057 ENSG00000172426
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Ciliary dyskinesia Ciliary Motility Disorders, CILIARY DYSKINESIA, PRIMARY, 12, Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)		 23993197, 24307375, 19200523, 22384920
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Otitis media Otitis Media with Effusion, Chronic otitis media ClinVar
Intracranial Aneurysm Intracranial Aneurysm GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining
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