• Gene id: 221421

Gene Summary

• Gene Symbol: RSPH9   Gene   UCSC   Ensembl
• Aliases: C6orf206, CILD12, MRPS18AL1
• Gene name: radial spoke head component 9
• Alternate names: radial spoke head protein 9 homolog, radial spoke head 9 homolog,
• Gene location: 6p21.1 (43645029: 43672599)     Exons: 7     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 612648

SNPs

rs397515340

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000006.12   g.43670919_43670921GAA[1]
NC_000006.12   g.43670919_43670921GAA[3]
NC_000006.11   g.43638656_43638658GAA[1]
NC_000006.11   g.43638656_43638658GAA[3]
NG_023436.1   g.30890_30892GAA[1]
NG_023436.1   g.30890_30892GAA[3]
NM_152732.5   c.801_803GAA[1]
NM  

Protein Summary

• Protein general information: Q9H1X1  
  • Name: Radial spoke head protein 9 homolog
  • Length: 276  
  • Mass: 31292
• Sequence:

  MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLY
  SLNCTEWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVVQIKEETRLVSVIDQIDKA
  VAIIPRGALFKTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGS
  WSIQMERGNALVVLRSLLWPGLTFYHAPRTKNYGYVYVGTGEKNMDLPFML

• Structural information:
  • Interpro: IPR006802  
• Other Databases: GeneCards:  RSPH9  Malacards:  RSPH9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005930	axoneme	IBA	cellular component
GO:0060294	cilium movement involved in cell motility	IBA	biological process
GO:0044458	motile cilium assembly	IBA	biological process
GO:0035082	axoneme assembly	IBA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0001534	radial spoke	IEA	cellular component
GO:0060294	cilium movement involved in cell motility	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035082	axoneme assembly	IEA	biological process
GO:0003341	cilium movement	IEA	biological process
GO:0005930	axoneme	IC	cellular component
GO:0031514	motile cilium	IC	cellular component
GO:0003341	cilium movement	IMP	biological process
GO:0035082	axoneme assembly	IMP	biological process
GO:0005930	axoneme	IDA	cellular component
GO:0097729	9+2 motile cilium	IDA	cellular component

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray