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Aliases for RSPH14 Gene

Aliases for RSPH14 Gene

  • Radial Spoke Head 14 Homolog 2 3
  • Radial Spoke Head 14 Homolog (Chlamydomonas) 2 5
  • Rhabdoid Tumor Deletion Region Protein 1 3 4
  • Rhabdoid Tumor Deletion Region Gene 1 2 3
  • RTDR1 3 4

External Ids for RSPH14 Gene

Previous HGNC Symbols for RSPH14 Gene

  • RTDR1

Summaries for RSPH14 Gene

Entrez Gene Summary for RSPH14 Gene

  • This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for RSPH14 Gene

RSPH14 (Radial Spoke Head 14 Homolog) is a Protein Coding gene. GO annotations related to this gene include binding.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPH14 Gene

Genomics for RSPH14 Gene

Regulatory Elements for RSPH14 Gene

Enhancers for RSPH14 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RSPH14 on UCSC Golden Path with GeneCards custom track

Promoters for RSPH14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RSPH14 on UCSC Golden Path with GeneCards custom track

Genomic Location for RSPH14 Gene

Chromosome:
22
Start:
23,059,408 bp from pter
End:
23,145,230 bp from pter
Size:
85,823 bases
Orientation:
Minus strand

Genomic View for RSPH14 Gene

Genes around RSPH14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPH14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPH14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH14 Gene

Proteins for RSPH14 Gene

  • Protein details for RSPH14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHP6-RSP14_HUMAN
    Recommended name:
    Radial spoke head 14 homolog
    Protein Accession:
    Q9UHP6

    Protein attributes for RSPH14 Gene

    Size:
    348 amino acids
    Molecular mass:
    38592 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RSPH14 Gene

Proteomics data for RSPH14 Gene at MOPED

Post-translational modifications for RSPH14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH14 Gene

No data available for DME Specific Peptides for RSPH14 Gene

Domains & Families for RSPH14 Gene

Protein Domains for RSPH14 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHP6

UniProtKB/Swiss-Prot:

RSP14_HUMAN :
  • Belongs to the flagellar radial spoke RSP14 family.
  • Contains 8 ARM repeats.
Family:
  • Belongs to the flagellar radial spoke RSP14 family.
Similarity:
  • Contains 8 ARM repeats.
genes like me logo Genes that share domains with RSPH14: view

No data available for Gene Families for RSPH14 Gene

Function for RSPH14 Gene

Phenotypes for RSPH14 Gene

GenomeRNAi human phenotypes for RSPH14:
genes like me logo Genes that share phenotypes with RSPH14: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RSPH14 Gene

Localization for RSPH14 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for RSPH14 Gene

Pathways & Interactions for RSPH14 Gene

SuperPathways for RSPH14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RSPH14 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RSPH14 Gene

Drugs & Compounds for RSPH14 Gene

No Compound Related Data Available

Transcripts for RSPH14 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH14 Gene

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

Relevant External Links for RSPH14 Gene

GeneLoc Exon Structure for
RSPH14
ECgene alternative splicing isoforms for
RSPH14

Expression for RSPH14 Gene

mRNA expression in normal human tissues for RSPH14 Gene

Protein differential expression in normal tissues from HIPED for RSPH14 Gene

This gene is overexpressed in Testis (67.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RSPH14 Gene



mRNA Expression by UniProt/SwissProt for RSPH14 Gene

Q9UHP6-RSP14_HUMAN
Tissue specificity: Expressed in adult cerebellum, spinal cord, spleen, skeletal muscle and some/5 out of 9 rhabdoid tumors. Detected in fetal brain, lung, liver and kidney.
genes like me logo Genes that share expression patterns with RSPH14: view

Protein tissue co-expression partners for RSPH14 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RSPH14 Gene

Orthologs for RSPH14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RSPH14 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RTDR1 35
  • 76.86 (n)
  • 66.47 (a)
RTDR1 36
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RTDR1 35
  • 75.98 (n)
  • 65.59 (a)
RTDR1 36
  • 58 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rtdr1 35
  • 72.25 (n)
  • 64.41 (a)
Rsph14 16
Rtdr1 36
  • 58 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RTDR1 35
  • 99.04 (n)
  • 99.14 (a)
RTDR1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rtdr1 35
  • 74.47 (n)
  • 63.83 (a)
oppossum
(Monodelphis domestica)
Mammalia RTDR1 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RTDR1 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves RTDR1 35
  • 55.75 (n)
  • 46.31 (a)
RTDR1 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RTDR1 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rtdr1 35
  • 54.31 (n)
  • 48.24 (a)
Str.5058 35
zebrafish
(Danio rerio)
Actinopterygii rtdr1 35
  • 52.45 (n)
  • 46.18 (a)
rtdr1 36
  • 44 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for RSPH14:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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 RSPH14 Gene

ENSEMBL:
Gene Tree for RSPH14 (if available)
TreeFam:
Gene Tree for RSPH14 (if available)

Paralogs for RSPH14 Gene

Pseudogenes.org Pseudogenes for RSPH14 Gene

genes like me logo Genes that share paralogs with RSPH14: view

No data available for Paralogs for RSPH14 Gene

Variants for RSPH14 Gene

Sequence variations from dbSNP and Humsavar for RSPH14 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs35211242 - 23,140,296(+) GCCTC(A/G)TCTGG upstream-variant-2KB, reference, missense
rs7288756 -- 23,140,775(+) AAGCA(A/C)ACTCC intron-variant, upstream-variant-2KB
rs2301554 -- 23,142,067(+) ACATA(A/C)TCAGC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs7291739 -- 23,125,837(+) TACAG(C/G)GAGCA intron-variant
rs34048600 -- 23,066,520(+) CAGGG(-/T)ACCGG intron-variant

Variation tolerance for RSPH14 Gene

Residual Variation Intolerance Score: 80.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.33; 63.13% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for RSPH14 Gene

Disorders for RSPH14 Gene

Relevant External Links for RSPH14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPH14

No disorders were found for RSPH14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RSPH14 Gene

Publications for RSPH14 Gene

  1. Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2. (PMID: 10607907) Zhou J.-Y. … Biegel J.A. (Gene 2000) 3 4 23 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (PMID: 22504420) Estrada K. … Rivadeneira F. (Nat. Genet. 2012) 3

Products for RSPH14 Gene

Sources for RSPH14 Gene

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