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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 Ciliary Dyskinesia, Primary, 1.

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

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 2.1 EPDnew Ensembl ENCODE 672.1 +0.4 430 2.5 CLOCK MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 ZNF610 RSPH3 GC06P159001 WTAP LOC105378083
GH06J158807 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +186.4 186434 13.2 DMAP1 YY1 ZNF213 ZNF143 ZNF263 SP3 MEF2D GLIS1 NBN KDM1A EZR WTAP LOC442272 RNU6-293P RSPH3 SYTL3 TMEM181 DYNLT1 TAGAP EZR-AS1
GH06J159035 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.7 -40.6 -40566 10.1 HDGF PKNOX1 SMAD1 ZNF2 IRF4 ZNF207 ZNF143 ATF7 RUNX3 JUNB TAGAP RSPH3 LOC105378083 SYTL3 DYNLT1 GC06P159017 ENSG00000226032
GH06J158938 Enhancer 1 FANTOM5 Ensembl ENCODE 21.5 +61.0 61042 1.6 HDAC1 NRF1 EBF1 CTBP1 ZFHX2 POLR2A IKZF1 ZBTB33 EGR2 RSPH3 TAGAP EZR RNU6-293P LOC105378083
GH06J158958 Enhancer 0.6 ENCODE 32.6 +41.7 41704 0.9 CTCF RXRA TEAD1 REST ZNF644 RAD21 TEAD3 SP1 HNF4G HNF4A RSPH3 RNU6-293P LOC442272 DYNLT1 SYTL3 LOC105378083
- 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

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

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=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
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

CRISPR Products

Inhibitory RNA Products

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

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. 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

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 IDA 27120127
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

mRNA/cDNA for RSPH3 Gene

Unigene Clusters for RSPH3 Gene

Radial spoke 3 homolog (Chlamydomonas):
Representative Sequences:

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
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 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
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 34 33
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH3 34 33
  • 81.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rsph3b 16 34 33
  • 81.19 (n)
Rsph3a 34
  • 64 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RSPH3 34 33
  • 80.13 (n)
OneToOne
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 34 33
  • 69.36 (n)
OneToOne
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 34 33
  • 63.37 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4654 33
fruit fly
(Drosophila melanogaster)
Insecta CG32392 34 33
  • 45.42 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea Cin.14205 33
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)
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 from dbSNP and Humsavar for RSPH3 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs10455840 benign, Ciliary dyskinesia, primary, 32 158,980,866(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs116017511 benign, Ciliary dyskinesia, primary, 32 158,993,902(-) T/C 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs12204826 benign, Ciliary dyskinesia, primary, 32 158,977,771(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs138878442 likely-benign, Ciliary dyskinesia, primary, 32 158,999,751(-) C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs142800871 pathogenic, Ciliary dyskinesia, primary, 32, Kartagener syndrome 158,986,423(-) T/C intron_variant, splice_acceptor_variant

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

(4) MalaCards diseases for RSPH3 Gene - From: HGMD, OMIM, ClinVar, GTR, 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. 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 58
  2. 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 58
  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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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 58

Products for RSPH3 Gene

Sources for RSPH3 Gene

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