Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RSPH4A Gene

Aliases for RSPH4A Gene

  • Radial Spoke Head 4 Homolog A 2 3 5
  • Radial Spoke Head-Like Protein 3 3 4
  • Radial Spokehead-Like 3 2 3
  • RSHL3 3 4
  • Radial Spoke Head 4 Homolog A (Chlamydomonas) 2
  • Radial Spoke Head Protein 4 Homolog A 3
  • DJ412I7.1 3
  • CILD11 3
  • RSPH6B 3

External Ids for RSPH4A Gene

Previous HGNC Symbols for RSPH4A Gene

  • RSHL3

Previous GeneCards Identifiers for RSPH4A Gene

  • GC06P117045
  • GC06P116941
  • GC06P114517

Summaries for RSPH4A Gene

Entrez Gene Summary for RSPH4A Gene

  • This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

GeneCards Summary for RSPH4A Gene

RSPH4A (Radial Spoke Head 4 Homolog A) is a Protein Coding gene. Diseases associated with RSPH4A include Ciliary Dyskinesia, Primary, 11 and Primary Ciliary Dyskinesia. An important paralog of this gene is RSPH6A.

UniProtKB/Swiss-Prot for RSPH4A 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 RSPH4A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPH4A Gene

Genomics for RSPH4A Gene

Regulatory Elements for RSPH4A Gene

Enhancers for RSPH4A 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
GH06G116555 1.2 Ensembl ENCODE 25.9 -36.5 -36499 3.6 PKNOX1 NFIB SIN3A ZNF335 GLIS2 ZNF366 SCRT2 RCOR1 FOS SP3 RSPH4A FAM26F FAM26D ENSG00000244158 KRT18P22 CBX3P9 ENSG00000234117 FAM26E TRAPPC3L RWDD1
GH06G116561 0.9 Ensembl ENCODE 26.4 -32.4 -32444 0.5 CTCF ZNF654 TRIM22 MAX USF2 REST RAD21 SMC3 ZNF143 MYC RSPH4A FAM26F FAM26D ENSG00000234117 ENSG00000244158 KRT18P22 CBX3P9 RWDD1 TRAPPC3L
GH06G116570 1.2 ENCODE 15.5 -22.1 -22061 3.0 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 RWDD1 RSPH4A CBX3P9 ENSG00000237021 ENSG00000240050
GH06G116615 1 ENCODE 14.9 +22.5 22507 1.2 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B ZNF121 GLIS2 ZNF207 FOS RSPH4A RWDD1 GC06P116597 ZUFSP
GH06G116630 1 ENCODE 14.8 +37.9 37942 2.0 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 TCF12 SLC30A9 GATA2 SP5 RSPH4A TRAPPC3L KPNA5 FAM26D GC06P116597 ZUFSP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RSPH4A on UCSC Golden Path with GeneCards custom track

Genomic Location for RSPH4A Gene

Chromosome:
6
Start:
116,593,900 bp from pter
End:
116,633,051 bp from pter
Size:
39,152 bases
Orientation:
Plus strand

Genomic View for RSPH4A Gene

Genes around RSPH4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPH4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPH4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH4A Gene

Proteins for RSPH4A Gene

  • Protein details for RSPH4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TD94-RSH4A_HUMAN
    Recommended name:
    Radial spoke head protein 4 homolog A
    Protein Accession:
    Q5TD94
    Secondary Accessions:
    • B4DSI1
    • Q3KP24
    • Q5TD95

    Protein attributes for RSPH4A Gene

    Size:
    716 amino acids
    Molecular mass:
    80733 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RSPH4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPH4A Gene

Post-translational modifications for RSPH4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH4A Gene

No data available for DME Specific Peptides for RSPH4A Gene

Domains & Families for RSPH4A Gene

Protein Domains for RSPH4A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5TD94

UniProtKB/Swiss-Prot:

RSH4A_HUMAN :
  • Belongs to the flagellar radial spoke RSP4/6 family.
Family:
  • Belongs to the flagellar radial spoke RSP4/6 family.
genes like me logo Genes that share domains with RSPH4A: view

No data available for Gene Families for RSPH4A Gene

Function for RSPH4A Gene

Molecular function for RSPH4A 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 RSPH4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with RSPH4A: view
genes like me logo Genes that share phenotypes with RSPH4A: view

Human Phenotype Ontology for RSPH4A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RSPH4A Gene

Localization for RSPH4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPH4A Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium. 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 RSPH4A gene
Compartment Confidence
cytoskeleton 5
nucleus 2

Gene Ontology (GO) - Cellular Components for RSPH4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001534 radial spoke ISS --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme IDA 23255504
genes like me logo Genes that share ontologies with RSPH4A: view

Pathways & Interactions for RSPH4A Gene

SuperPathways for RSPH4A Gene

No Data Available

Interacting Proteins for RSPH4A Gene

Selected Interacting proteins: Q5TD94-RSH4A_HUMAN for RSPH4A Gene via IID

Gene Ontology (GO) - Biological Process for RSPH4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IMP 19200523
GO:0035082 axoneme assembly IMP 19200523
genes like me logo Genes that share ontologies with RSPH4A: view

No data available for Pathways by source and SIGNOR curated interactions for RSPH4A Gene

Transcripts for RSPH4A Gene

mRNA/cDNA for RSPH4A Gene

Unigene Clusters for RSPH4A Gene

Radial spoke head 4 homolog A (Chlamydomonas):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH4A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -

Relevant External Links for RSPH4A Gene

GeneLoc Exon Structure for
RSPH4A
ECgene alternative splicing isoforms for
RSPH4A

Expression for RSPH4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RSPH4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RSPH4A Gene

This gene is overexpressed in Fallopian Tube (x5.4) and Pituitary (x4.5).

Protein differential expression in normal tissues from HIPED for RSPH4A Gene

This gene is overexpressed in Lavage (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RSPH4A Gene



Protein tissue co-expression partners for RSPH4A Gene

NURSA nuclear receptor signaling pathways regulating expression of RSPH4A Gene:

RSPH4A

SOURCE GeneReport for Unigene cluster for RSPH4A Gene:

Hs.160380

mRNA Expression by UniProt/SwissProt for RSPH4A Gene:

Q5TD94-RSH4A_HUMAN
Tissue specificity: Expressed in trachea, lungs, and testes. Very strong expression is detected in nasal brushings.

Evidence on tissue expression from TISSUES for RSPH4A Gene

  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RSPH4A 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 RSPH4A: view

Primer Products

Orthologs for RSPH4A Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPH4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSPH4A 34 35
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia RSPH4A 34 35
  • 86.31 (n)
dog
(Canis familiaris)
Mammalia RSPH4A 34 35
  • 85.55 (n)
mouse
(Mus musculus)
Mammalia Rsph4a 34 16 35
  • 80.54 (n)
rat
(Rattus norvegicus)
Mammalia Rsph4a 34
  • 78.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH4A 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RSPH4A 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPH4A 34 35
  • 68.18 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rsph6a 34
  • 62.12 (n)
Str.11803 34
zebrafish
(Danio rerio)
Actinopterygii LOC100148286 34
  • 61.44 (n)
rsph4a 35
  • 55 (a)
OneToOne
wufj17d05 34
fruit fly
(Drosophila melanogaster)
Insecta CG3121 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4510 35
  • 61 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13707 34
Species where no ortholog for RSPH4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 RSPH4A Gene

ENSEMBL:
Gene Tree for RSPH4A (if available)
TreeFam:
Gene Tree for RSPH4A (if available)

Paralogs for RSPH4A Gene

Paralogs for RSPH4A Gene

(2) SIMAP similar genes for RSPH4A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RSPH4A: view

Variants for RSPH4A Gene

Sequence variations from dbSNP and Humsavar for RSPH4A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs753041231 Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649] 116,628,098(+) CACTG(A/G)GCGAT reference, missense
rs767490154 Uncertain significance, Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649] 116,616,882(+) TCTCT(C/T)CGCGG reference, missense
rs118204041 Pathogenic 116,617,083(+) AGTCT(C/T)AGCAA reference, stop-gained
rs118204042 Pathogenic 116,616,948(+) CACCT(C/T)AGTCG reference, stop-gained
rs118204043 Pathogenic 116,628,175(+) TTGCC(C/T)GAATT reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for RSPH4A Gene

Variant ID Type Subtype PubMed ID
nsv523972 CNV gain 19592680
nsv5448 CNV insertion 18451855
nsv830783 CNV gain 17160897

Variation tolerance for RSPH4A Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.91; 91.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPH4A Gene

Human Gene Mutation Database (HGMD)
RSPH4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSPH4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH4A Gene

Disorders for RSPH4A Gene

MalaCards: The human disease database

(8) MalaCards diseases for RSPH4A Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RSH4A_HUMAN
  • Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649]: 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, ECO:0000269 PubMed:23798057, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RSPH4A

Genetic Association Database (GAD)
RSPH4A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPH4A
genes like me logo Genes that share disorders with RSPH4A: view

No data available for Genatlas for RSPH4A Gene

Publications for RSPH4A 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. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. (PMID: 23798057) Daniels M.L. … Zariwala M.A. (Hum. Mutat. 2013) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. (PMID: 25789548) Frommer A. … Omran H. (Am. J. Respir. Cell Mol. Biol. 2015) 3 64
  5. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. (PMID: 25186273) Raidt J. … Werner C. (Eur. Respir. J. 2014) 4 64

Products for RSPH4A Gene

Sources for RSPH4A Gene

Content
Loading form....