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Aliases for RSPH3 Gene

Aliases for RSPH3 Gene

  • Radial Spoke Head 3 Homolog 2 3 5
  • Radial Spoke Head-Like Protein 2 3 4
  • A-Kinase Anchor Protein RSPH3 3 4
  • RSHL2 3 4
  • RSP3 3 4
  • Radial Spoke Head 3 Homolog (Chlamydomonas) 2
  • Radial Spoke Head Protein 3 Homolog 3
  • Radial Spokehead-Like 2 2
  • Radial Spoke 3 Homolog 3
  • DJ111C20.1 3
  • CILD32 3

External Ids for RSPH3 Gene

Previous HGNC Symbols for RSPH3 Gene

  • RSHL2

Previous GeneCards Identifiers for RSPH3 Gene

  • GC06M159317
  • GC06M159318
  • GC06M159397
  • GC06M156868

Summaries for RSPH3 Gene

Entrez Gene Summary for RSPH3 Gene

  • The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

GeneCards Summary for RSPH3 Gene

RSPH3 (Radial Spoke Head 3 Homolog) is a Protein Coding gene. Diseases associated with RSPH3 include Ciliary Dyskinesia, Primary, 32 and Primary Ciliary Dyskinesia 32: Rsph3-Related Primary Ciliary Dyskinesia.

UniProtKB/Swiss-Prot for RSPH3 Gene

  • Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia.

Gene Wiki entry for RSPH3 Gene

Additional gene information for RSPH3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPH3 Gene

Genomics for RSPH3 Gene

Regulatory Elements for RSPH3 Gene

Enhancers for RSPH3 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
GH06H158998 1.2 ENCODE 22.1 +0.3 336 2.4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 RSPH3 LOC105378083
GH06H158938 1.2 FANTOM5 Ensembl ENCODE 21.5 +61.0 61042 1.6 HDAC1 ZFHX2 CTBP1 IKZF1 NRF1 ZBTB33 EGR2 RSPH3 TAGAP EZR RNU6-293P LOC105378083
GH06H158807 2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +186.4 186434 13.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 EZR LOC442272 RNU6-293P RSPH3 WTAP SYTL3 TMEM181 DYNLT1 TAGAP EZR-AS1
GH06H159103 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -106.7 -106672 6.5 HDGF PKNOX1 ATF1 FOXA2 ZNF143 FOS ATF7 RUNX3 NFYC REST TAGAP RSPH3 EZR ENSG00000224478 ENSG00000226032
GH06H158995 0.9 Ensembl ENCODE 22.1 +4.9 4892 1.1 CBFB JUNB BATF FOSL1 IKZF1 EED FOS RUNX3 MAFK IKZF2 RSPH3 C6orf99 LOC105378083
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RSPH3 on UCSC Golden Path with GeneCards custom track

Promoters for RSPH3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000206179 532 2201 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Locations for RSPH3 Gene

Genomic Locations for RSPH3 Gene
chr6:158,972,871-159,000,432
(GRCh38/hg38)
Size:
27,562 bases
Orientation:
Minus strand
chr6:159,393,903-159,421,219
(GRCh37/hg19)

Genomic View for RSPH3 Gene

Genes around RSPH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH3 Gene

Proteins for RSPH3 Gene

  • Protein details for RSPH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UC2-RSPH3_HUMAN
    Recommended name:
    Radial spoke head protein 3 homolog
    Protein Accession:
    Q86UC2
    Secondary Accessions:
    • Q96LQ5
    • Q96LX2
    • Q9BX75

    Protein attributes for RSPH3 Gene

    Size:
    560 amino acids
    Molecular mass:
    63687 Da
    Quaternary structure:
    • Interacts with phosphorylated MAPK1. Interacts with MEK1. Interacts with PKA regulatory subunits PRKAR1A and PRKAR1B.
    SequenceCaution:
    • Sequence=AAK26432.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71544.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RSPH3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPH3 Gene

Post-translational modifications for RSPH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH3 Gene

No data available for DME Specific Peptides for RSPH3 Gene

Domains & Families for RSPH3 Gene

Gene Families for RSPH3 Gene

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

Protein Domains for RSPH3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86UC2

UniProtKB/Swiss-Prot:

RSPH3_HUMAN :
  • Belongs to the flagellar radial spoke RSP3 family.
Family:
  • Belongs to the flagellar radial spoke RSP3 family.
genes like me logo Genes that share domains with RSPH3: view

Function for RSPH3 Gene

Molecular function for RSPH3 Gene

UniProtKB/Swiss-Prot Function:
Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia.

Phenotypes From GWAS Catalog for RSPH3 Gene

Gene Ontology (GO) - Molecular Function for RSPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RSPH3: view

Phenotypes for RSPH3 Gene

GenomeRNAi human phenotypes for RSPH3:
genes like me logo Genes that share phenotypes with RSPH3: view

Human Phenotype Ontology for RSPH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RSPH3 Gene

Localization for RSPH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPH3 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

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 RSPH3 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 3
plasma membrane 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RSPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with RSPH3: view

Pathways & Interactions for RSPH3 Gene

SuperPathways for RSPH3 Gene

No Data Available

Interacting Proteins for RSPH3 Gene

Gene Ontology (GO) - Biological Process for RSPH3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RSPH3 Gene

Drugs & Compounds for RSPH3 Gene

No Compound Related Data Available

Transcripts for RSPH3 Gene

Unigene Clusters for RSPH3 Gene

Radial spoke 3 homolog (Chlamydomonas):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9
SP1: - - - -
SP2: - -
SP3: - - -
SP4: - - - - - - -
SP5: - -
SP6: -

Relevant External Links for RSPH3 Gene

GeneLoc Exon Structure for
RSPH3
ECgene alternative splicing isoforms for
RSPH3

Expression for RSPH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RSPH3 Gene

Protein differential expression in normal tissues from HIPED for RSPH3 Gene

This gene is overexpressed in Heart (62.9) and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RSPH3 Gene



Protein tissue co-expression partners for RSPH3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RSPH3 Gene:

RSPH3

SOURCE GeneReport for Unigene cluster for RSPH3 Gene:

Hs.154628

Evidence on tissue expression from TISSUES for RSPH3 Gene

  • Skin(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RSPH3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
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 RSPH3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RSPH3 Gene

Orthologs for RSPH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSPH3 33 34
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia RSPH3 33 34
  • 81.55 (n)
mouse
(Mus musculus)
Mammalia Rsph3b 33 16 34
  • 81.19 (n)
Rsph3a 34
  • 64 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RSPH3 33 34
  • 80.13 (n)
rat
(Rattus norvegicus)
Mammalia Rsph3 33
  • 75.56 (n)
oppossum
(Monodelphis domestica)
Mammalia RSPH3 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH3 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPH3 33 34
  • 69.36 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 57 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rsph3 33
  • 66.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1504 33
zebrafish
(Danio rerio)
Actinopterygii rsph3 33 34
  • 63.37 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4654 33
fruit fly
(Drosophila melanogaster)
Insecta CG32392 33 34
  • 45.42 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14205 33
Species where no ortholog for RSPH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 RSPH3 Gene

ENSEMBL:
Gene Tree for RSPH3 (if available)
TreeFam:
Gene Tree for RSPH3 (if available)

Paralogs for RSPH3 Gene

No data available for Paralogs for RSPH3 Gene

Variants for RSPH3 Gene

Sequence variations from dbSNP and Humsavar for RSPH3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs142800871 Pathogenic 158,986,423(+) CGAGC(C/T)AACAG intron-variant, splice-acceptor-variant
rs796052117 Pathogenic 158,993,853(-) CACTC(C/T)AGACA nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs796052118 Pathogenic 158,980,867(-) CCGCC(C/T)GAGCA nc-transcript-variant, reference, stop-gained
rs796052119 Pathogenic 158,982,502(-) AGAGG(C/T)GACAC nc-transcript-variant, reference, stop-gained
rs875989825 Pathogenic 158,978,309(-) ATGAA(-/TGAA)GTTGA nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for RSPH3 Gene

Variant ID Type Subtype PubMed ID
esv3540756 CNV deletion 23714750
esv33909 CNV loss 17666407
esv33554 CNV loss 17666407
esv33150 CNV loss 17666407
esv32758 CNV loss 17666407
esv2668232 CNV deletion 23128226

Variation tolerance for RSPH3 Gene

Residual Variation Intolerance Score: 96.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.98; 97.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPH3 Gene

Human Gene Mutation Database (HGMD)
RSPH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSPH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH3 Gene

Disorders for RSPH3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RSPH3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 32
  • primary ciliary dyskinesia 32
primary ciliary dyskinesia 32: rsph3-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 32
ciliary dyskinesia, primary, 1, with or without situs inversus
  • primary ciliary dyskinesia 1
kartagener syndrome
  • kartagener's syndrome
muscular dystrophy, rigid spine, 1
  • rigid spine muscular dystrophy 1
- elite association - COSMIC cancer census association via MalaCards
Search RSPH3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RSPH3_HUMAN
  • Ciliary dyskinesia, primary, 32 (CILD32) [MIM:616481]: 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. {ECO:0000269 PubMed:26073779}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RSPH3

Genetic Association Database (GAD)
RSPH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPH3
genes like me logo Genes that share disorders with RSPH3: view

No data available for Genatlas for RSPH3 Gene

Publications for RSPH3 Gene

  1. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. (PMID: 26073779) Jeanson L … Legendre M (American journal of human genetics 2015) 3 4 60
  2. Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2. (PMID: 19684019) Jivan A … Cobb MH (The Journal of biological chemistry 2009) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  5. Genome-wide interaction study of smoking and bladder cancer risk. (PMID: 24662972) Figueroa JD … Silverman DT (Carcinogenesis 2014) 3 60

Products for RSPH3 Gene

Sources for RSPH3 Gene

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