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 ... See more...

Aliases for RSPH3 Gene

Aliases for RSPH3 Gene

  • Radial Spoke Head 3 2 3 5
  • Radial Spoke Head Protein 3 Homolog 3 4
  • 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 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) is a Protein Coding gene. Diseases associated with RSPH3 include Ciliary Dyskinesia, Primary, 32 and Ciliary Dyskinesia, Primary, 1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for RSPH3 Gene

Genomics for RSPH3 Gene

GeneHancer (GH) Regulatory Elements for RSPH3 Gene

Promoters and enhancers for RSPH3 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
GH06J158998 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas 522 -0.2 -168 6.8 FOXK2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 MYC USF1 RSPH3 lnc-FNDC1-10-001 WTAP C6orf99 LOC105378083
GH06J158807 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 +186.3 186344 13.4 HNRNPK CTCF ZSCAN5C SIN3A NRF1 TCF12 USF1 POLR2G SP1 NCOR1 EZR WTAP ENSG00000213076 RNU6-293P RSPH3 SYTL3 TMEM181 DYNLT1 TAGAP EZR-AS1
GH06J158972 Enhancer 0.8 Ensembl ENCODE 31.9 +28.0 28039 0.8 CTCF REST RAD21 TRIM22 SMC3 IRF1 ARNT XRCC3 FOSL1 ZNF654 HSALNG0054716 RSPH3 WTAP lnc-TAGAP-3
GH06J159035 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.7 -40.6 -40566 10.1 ZBTB40 CTCF SIN3A SP1 EP300 GABPA TRIM28 JUND REST RFX1 TAGAP RSPH3 LOC105378083 SYTL3 DYNLT1 lnc-FNDC1-10-002 ENSG00000226032
GH06J158958 Enhancer 0.8 Ensembl ENCODE 32.6 +41.4 41394 1.5 CTCF NCOR1 REST RAD21 TEAD1 SMC3 HNF4A TEAD3 MAX ZNF644 RSPH3 RNU6-293P ENSG00000213076 DYNLT1 SYTL3 lnc-SYTL3-151 HSALNG0054710
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RSPH3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RSPH3

Top Transcription factor binding sites by QIAGEN in the RSPH3 gene promoter:
  • AML1a
  • c-Myc
  • C/EBPalpha
  • FOXO4
  • HNF-4alpha1
  • HSF1 (long)
  • HSF1short
  • Max
  • PPAR-gamma1
  • PPAR-gamma2

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)
Size:
27,317 bases
Orientation:
Minus strand

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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB71544.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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:
  • Radial spoke head-like protein 2 (RSPH3_HUMAN)

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

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 Models for RSPH3 Gene

MGI Knock Outs for RSPH3:
  • Rsph3b Rsph3b<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RSPH3

No data available for Enzyme Numbers (IUBMB) , 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. Cell projection, cilium.

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
extracellular 1

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:0005929 cilium IEA,IDA 27120127
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with RSPH3: view

Pathways & Interactions for RSPH3 Gene

PathCards logo

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

mRNA/cDNA for RSPH3 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RSPH3

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

Expression for RSPH3 Gene

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



Protein tissue co-expression partners for RSPH3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
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 RSPH3: view

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 31 30
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH3 31 30
  • 81.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rsph3b 17 31 30
  • 81.19 (n)
Rsph3a 31
  • 64 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RSPH3 31 30
  • 80.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsph3 30
  • 75.56 (n)
oppossum
(Monodelphis domestica)
Mammalia RSPH3 31
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH3 31
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPH3 31 30
  • 69.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 57 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rsph3 30
  • 66.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1504 30
zebrafish
(Danio rerio)
Actinopterygii rsph3 31 30
  • 63.37 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4654 30
fruit fly
(Drosophila melanogaster)
Insecta CG32392 31 30
  • 45.42 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea Cin.14205 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14205 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for RSPH3: view image

Paralogs for RSPH3 Gene

No data available for Paralogs for RSPH3 Gene

Variants for RSPH3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RSPH3 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
645936 Uncertain Significance: Ciliary dyskinesia, primary, 32 158,999,936(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
646115 Pathogenic: Ciliary dyskinesia, primary, 32 158,999,753(-) CCA/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
646621 Uncertain Significance: Ciliary dyskinesia, primary, 32 158,980,782(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
649011 Uncertain Significance: Ciliary dyskinesia, primary, 32 158,978,295(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
650363 Pathogenic: Ciliary dyskinesia, primary, 32 158,993,874(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for RSPH3 Gene

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

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

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)

Additional Variant Information for RSPH3 Gene

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

SNP Genotyping and Copy Number Assay Products

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: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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) 2 3 4 54
  2. Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. (PMID: 27120127) Jeanson L … Legendre M (Human mutation 2016) 3 4 54
  3. 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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54

Products for RSPH3 Gene

Sources for RSPH3 Gene