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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
  • Radial Spoke Head Protein 9 Homolog 3
  • Chromosome 6 Open Reading Frame 206 2
  • 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 Ciliary Dyskinesia, Primary, 1.

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

Additional gene information for RSPH9 Gene

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

Genomics for RSPH9 Gene

GeneHancer (GH) Regulatory Elements for RSPH9 Gene

Promoters and enhancers for RSPH9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J043634 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 658.8 -9.1 -9073 2.1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC RSPH9 MAD2L1BP GTPBP2 RRP36 ZNF318 POLH ABCC10 CUL7 ENSG00000223469 RPS2P28
GH06J043644 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 662.4 +0.2 201 1.5 KLF1 SP3 ZNF777 RFX1 SP2 SIN3A ZNF560 ZFHX2 POLR2A PATZ1 RSPH9 GC06P043678 GC06P043677 GC06P043362
GH06J043686 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.6 +42.7 42692 1.8 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B E2F8 FOS MRPS18A MYMX RSPH9 MAD2L1BP GTPBP2 GC06M043677 GC06P043362
GH06J043667 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +24.1 24096 3.9 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 POLR2B E2F8 ZNF143 DEK GTPBP2 RPS2P29 ABCC10 BICRAL VEGFA ZNF318 RSPH9 MAD2L1BP RPL34P14 CUL7
GH06J043624 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 8.7 -17.0 -16991 7.4 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 GTPBP2 MAD2L1BP ZNF318 POLH ABCC10 RPS2P29 RRP36 CUL7 BICRAL XPO5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RSPH9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RSPH9 gene promoter:
  • NRSF form 2
  • NRSF form 1
  • STAT1beta
  • STAT1alpha
  • STAT1
  • NRF-2
  • Pax-4a
  • E47

Genomic Locations for RSPH9 Gene

Genomic Locations for RSPH9 Gene
chr6:43,645,030-43,672,599
(GRCh38/hg38)
Size:
27,570 bases
Orientation:
Plus strand
chr6:43,612,767-43,640,336
(GRCh37/hg19)
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

Gene Families for RSPH9 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for RSPH9 Gene

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
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:
  • Rsph9 Rsph9<tm1.1(KOMP)Vlcg>

Animal Model Products

miRNA for RSPH9 Gene

miRTarBase miRNAs that target RSPH9

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RSPH9 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
cytosol 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 IDA,IC 26909801
GO:0031514 motile cilium IC 19200523
genes like me logo Genes that share ontologies with RSPH9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RSPH9 Gene

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

Drugs & Compounds for RSPH9 Gene

No Compound Related Data Available

Transcripts for RSPH9 Gene

mRNA/cDNA for RSPH9 Gene

(3) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(56) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RSPH9 Gene

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

Clone 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 CGAP 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 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

Evidence on tissue expression from TISSUES for RSPH9 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RSPH9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with RSPH9: view

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 33
  • 89.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rsph9 16 34 33
  • 88.41 (n)
rat
(Rattus norvegicus)
Mammalia Rsph9 33
  • 88.19 (n)
oppossum
(Monodelphis domestica)
Mammalia RSPH9 34
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH9 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH9 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPH9 34 33
  • 68.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSPH9 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsph9 33
  • 60.02 (n)
Str.464 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15384 33
zebrafish
(Danio rerio)
Actinopterygii rsph9 34 33
  • 57.13 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5224 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011032 33
  • 47.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31803 34 33
  • 46.59 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4333 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RSPH9: view image

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 Variation AA Info Type
rs147713380 uncertain-significance, Primary ciliary dyskinesia 43,650,423(+) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs16896629 benign, likely-benign, not specified, Primary ciliary dyskinesia 43,670,899(+) G/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs199874020 likely-benign, Primary ciliary dyskinesia 43,650,520(+) G/A/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs200193470 uncertain-significance, Primary ciliary dyskinesia 43,670,878(+) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs201032669 conflicting-interpretations-of-pathogenicity, Primary ciliary dyskinesia 43,655,680(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for RSPH9 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for RSPH9 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RSPH9 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 VH … Mitchison HM (American journal of human genetics 2009) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RSPH9 Gene

Sources for RSPH9 Gene

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