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Aliases for RSPH9 Gene

Aliases for RSPH9 Gene

  • Radial Spoke Head 9 Homolog 2 3 5
  • MRPS18AL1 3 4
  • C6orf206 3 4
  • Mitochondrial Ribosomal Protein S18A-Like 1 2
  • Radial Spoke Head 9 Homolog (Chlamydomonas) 2
  • Chromosome 6 Open Reading Frame 206 2
  • Radial Spoke Head Protein 9 Homolog 3
  • CILD12 3

External Ids for RSPH9 Gene

Previous HGNC Symbols for RSPH9 Gene

  • MRPS18AL1
  • C6orf206

Previous GeneCards Identifiers for RSPH9 Gene

  • GC06P043721
  • GC06P043722
  • GC06P043612
  • GC06P043336

Summaries for RSPH9 Gene

Entrez Gene Summary for RSPH9 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 by RefSeq, Jul 2010]

GeneCards Summary for RSPH9 Gene

RSPH9 (Radial Spoke Head 9 Homolog) is a Protein Coding gene. Diseases associated with RSPH9 include Ciliary Dyskinesia, Primary, 12 and Primary Ciliary Dyskinesia.

UniProtKB/Swiss-Prot for RSPH9 Gene

  • Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.

Gene Wiki entry for RSPH9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPH9 Gene

Genomics for RSPH9 Gene

Regulatory Elements for RSPH9 Gene

Enhancers for RSPH9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F043644 0.5 ENCODE 12.4 +0.2 202 1.5 KLF1 SP3 RFX1 SP2 CEBPB ZFHX2 POLR2A PATZ1 MYNN KLF9 RSPH9 GC06P043678 GC06P043677
GH06F043667 0.9 FANTOM5 Ensembl ENCODE 12.1 +24.9 24876 5.8 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC POLH RPS2P29 ENSG00000223469 RPS2P28 RPL29P16 CUL9 RSPH9 GTPBP2 MAD2L1BP VEGFA
GH06F043608 0.2 ENCODE 11.9 -36.5 -36542 0.2 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000271970 RSPH9 GTPBP2 MAD2L1BP XPO5 POLH ENSG00000252218 RPS2P29 RPL24P4 YIPF3
GH06F043604 0.9 ENCODE 11.9 -40.7 -40672 0.1 ZNF121 ZNF664 ZNF197 JUND RSPH9 GTPBP2 MAD2L1BP POLH XPO5 RPS2P29 ENSG00000252218 YIPF3 POLR1C LRRC73
GH06F043758 0.2 ENCODE 11.4 +113.6 113639 0.2 CTCF SAP130 ZNF48 RAD21 ZBTB48 PATZ1 ZNF143 SMC3 THAP11 GATAD2A RSPH9 MRPL14 TMEM63B MAD2L1BP GTPBP2 VEGFA LOC105375066
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RSPH9 on UCSC Golden Path with GeneCards custom track

Promoters for RSPH9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001880859 370 1201 KLF1 SP3 RFX1 SP2 CEBPB ZNF140 ZFHX2 PATZ1 MYNN KLF9

Genomic Location for RSPH9 Gene

Chromosome:
6
Start:
43,645,030 bp from pter
End:
43,672,599 bp from pter
Size:
27,570 bases
Orientation:
Plus strand

Genomic View for RSPH9 Gene

Genes around RSPH9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPH9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPH9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH9 Gene

Proteins for RSPH9 Gene

  • Protein details for RSPH9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1X1-RSPH9_HUMAN
    Recommended name:
    Radial spoke head protein 9 homolog
    Protein Accession:
    Q9H1X1
    Secondary Accessions:
    • A8K5T4
    • Q96NH9

    Protein attributes for RSPH9 Gene

    Size:
    276 amino acids
    Molecular mass:
    31292 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RSPH9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPH9 Gene

Post-translational modifications for RSPH9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH9 Gene

No data available for DME Specific Peptides for RSPH9 Gene

Domains & Families for RSPH9 Gene

Protein Domains for RSPH9 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9H1X1

UniProtKB/Swiss-Prot:

RSPH9_HUMAN :
  • Belongs to the flagellar radial spoke RSP9 family.
Family:
  • Belongs to the flagellar radial spoke RSP9 family.
genes like me logo Genes that share domains with RSPH9: view

No data available for Gene Families for RSPH9 Gene

Function for RSPH9 Gene

Molecular function for RSPH9 Gene

UniProtKB/Swiss-Prot Function:
Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.

Gene Ontology (GO) - Molecular Function for RSPH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RSPH9: view

Phenotypes for RSPH9 Gene

MGI mutant phenotypes for RSPH9:
inferred from 1 alleles
GenomeRNAi human phenotypes for RSPH9:
genes like me logo Genes that share phenotypes with RSPH9: view

Human Phenotype Ontology for RSPH9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RSPH9 Gene

MGI Knock Outs for RSPH9:

Animal Model Products

miRNA for RSPH9 Gene

miRTarBase miRNAs that target RSPH9

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RSPH9 Gene

Localization for RSPH9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPH9 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Note=Radial spoke. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSPH9 Gene COMPARTMENTS Subcellular localization image for RSPH9 gene
Compartment Confidence
cytoskeleton 3
cytosol 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RSPH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme IC 19200523
GO:0031514 motile cilium IC 19200523
genes like me logo Genes that share ontologies with RSPH9: view

Pathways & Interactions for RSPH9 Gene

SuperPathways for RSPH9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RSPH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IMP 19200523
GO:0035082 axoneme assembly IMP 19200523
GO:0044458 motile cilium assembly IBA --
GO:0060294 cilium movement involved in cell motility IBA --
genes like me logo Genes that share ontologies with RSPH9: view

No data available for Pathways by source and SIGNOR curated interactions for RSPH9 Gene

Transcripts for RSPH9 Gene

mRNA/cDNA for RSPH9 Gene

Unigene Clusters for RSPH9 Gene

Radial spoke head 9 homolog (Chlamydomonas):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH9 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for RSPH9 Gene

GeneLoc Exon Structure for
RSPH9
ECgene alternative splicing isoforms for
RSPH9

Expression for RSPH9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RSPH9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RSPH9 Gene

This gene is overexpressed in Testis (x17.8).

Protein differential expression in normal tissues from HIPED for RSPH9 Gene

This gene is overexpressed in Neutrophil (42.2) and Testis (25.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RSPH9 Gene



Protein tissue co-expression partners for RSPH9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RSPH9 Gene:

RSPH9

SOURCE GeneReport for Unigene cluster for RSPH9 Gene:

Hs.534585
genes like me logo Genes that share expression patterns with RSPH9: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for RSPH9 Gene

Orthologs for RSPH9 Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPH9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RSPH9 34 35
  • 89.37 (n)
mouse
(Mus musculus)
Mammalia Rsph9 34 16 35
  • 88.41 (n)
rat
(Rattus norvegicus)
Mammalia Rsph9 34
  • 88.19 (n)
oppossum
(Monodelphis domestica)
Mammalia RSPH9 35
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH9 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH9 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPH9 34 35
  • 68.35 (n)
lizard
(Anolis carolinensis)
Reptilia RSPH9 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsph9 34
  • 60.02 (n)
Str.464 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15384 34
zebrafish
(Danio rerio)
Actinopterygii rsph9 34 35
  • 57.13 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5224 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011032 34
  • 47.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31803 34 35
  • 46.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4333 35
  • 42 (a)
OneToOne
Species where no ortholog for RSPH9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RSPH9 Gene

ENSEMBL:
Gene Tree for RSPH9 (if available)
TreeFam:
Gene Tree for RSPH9 (if available)

Paralogs for RSPH9 Gene

No data available for Paralogs for RSPH9 Gene

Variants for RSPH9 Gene

Sequence variations from dbSNP and Humsavar for RSPH9 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs397515340 Pathogenic 43,670,919(+) GGCGA(-/GAA)GAACA downstream-variant-500B, cds-indel
rs397515488 Pathogenic 43,645,150(+) GTGGG(C/T)AGGGC nc-transcript-variant, reference, stop-gained
rs397518457 Pathogenic 43,670,922(+) GAGAA(-/GAA)CATGG downstream-variant-500B, cds-indel
rs140285713 Likely benign 43,650,474(+) TCATA(C/T)GAATA intron-variant, nc-transcript-variant, reference, synonymous-codon
rs2295947 Likely benign 43,655,589(+) GCTTG(A/G)TGTCT intron-variant, nc-transcript-variant, reference, missense, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for RSPH9 Gene

Variant ID Type Subtype PubMed ID
esv3567719 CNV deletion 23714750
esv3608817 CNV loss 21293372
nsv5281 CNV deletion 18451855

Variation tolerance for RSPH9 Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.72; 78.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPH9 Gene

Human Gene Mutation Database (HGMD)
RSPH9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSPH9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH9 Gene

Disorders for RSPH9 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RSPH9 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 12
  • primary ciliary dyskinesia 12
primary ciliary dyskinesia
  • ciliary motility disorder
bronchiectasis
  • kartagener syndrome
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RSPH9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RSPH9_HUMAN
  • Ciliary dyskinesia, primary, 12 (CILD12) [MIM:612650]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:19200523}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RSPH9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPH9
genes like me logo Genes that share disorders with RSPH9: view

No data available for Genatlas for RSPH9 Gene

Publications for RSPH9 Gene

  1. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. (PMID: 19200523) Castleman V.H. … Mitchison H.M. (Am. J. Hum. Genet. 2009) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for RSPH9 Gene

Sources for RSPH9 Gene

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