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] See more...

Aliases for RSPH14 Gene

Aliases for RSPH14 Gene

  • Radial Spoke Head 14 Homolog 2 3 4 5
  • Rhabdoid Tumor Deletion Region Protein 1 3 4
  • Rhabdoid Tumor Deletion Region Gene 1 2 3
  • RTDR1 3 4
  • Radial Spoke Head 14 Homolog (Chlamydomonas) 2
  • RSPH14 5

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. Diseases associated with RSPH14 include Thrombocytopenia-Absent Radius Syndrome and Duodenum Adenocarcinoma. Gene Ontology (GO) annotations related to this gene include binding.

Additional gene information for RSPH14 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RSPH14 Gene

Genomics for RSPH14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RSPH14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RSPH14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RSPH14

Genomic Locations for RSPH14 Gene

Genomic Locations for RSPH14 Gene
chr22:23,059,408-23,180,048
(GRCh38/hg38)
Size:
120,641 bases
Orientation:
Minus strand
chr22:23,401,593-23,487,208
(GRCh37/hg19)
Size:
85,616 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

Post-translational modifications for RSPH14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RSPH14 Gene

Domains & Families for RSPH14 Gene

Gene Families for RSPH14 Gene

Protein Domains for RSPH14 Gene

InterPro:
Blocks:
  • HEAT repeat
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH14 Gene

GenScript: Design optimal peptide antigens:
  • Rhabdoid tumor deletion region protein 1 (RTDR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHP6

UniProtKB/Swiss-Prot:

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

Function for RSPH14 Gene

Phenotypes From GWAS Catalog for RSPH14 Gene

Gene Ontology (GO) - Molecular Function for RSPH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RSPH14: view
genes like me logo Genes that share phenotypes with RSPH14: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RSPH14

Clone Products

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

Localization for RSPH14 Gene

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 RSPH14 gene
Compartment Confidence
cytosol 2
plasma membrane 1
nucleus 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RSPH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with RSPH14: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RSPH14 Gene

Pathways & Interactions for RSPH14 Gene

PathCards logo

SuperPathways for RSPH14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RSPH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with RSPH14: view

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

mRNA/cDNA for RSPH14 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 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 RSPH14

Clone Products

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

Expression for RSPH14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RSPH14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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 and MOPED for RSPH14 Gene



Protein tissue co-expression partners for RSPH14 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RSPH14

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

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia RTDR1 30 31
  • 99.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RTDR1 30 31
  • 76.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RTDR1 30 31
  • 75.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rtdr1 30
  • 74.47 (n)
Mouse
(Mus musculus)
Mammalia Rtdr1 30 31
  • 72.25 (n)
OneToOne
Rsph14 17
Oppossum
(Monodelphis domestica)
Mammalia RTDR1 31
  • 56 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RTDR1 31
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RTDR1 30 31
  • 55.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RTDR1 31
  • 43 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rtdr1 30
  • 54.31 (n)
Str.5058 30
Zebrafish
(Danio rerio)
Actinopterygii rtdr1 30 31
  • 52.45 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for RSPH14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RSPH14: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RSPH14 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
691352 Uncertain Significance: Pyloric stenosis; Esophageal atresia 23,096,188(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
720633 Benign: not provided 23,096,349(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
rs35211242 - p.Thr42Met

Additional dbSNP identifiers (rs#s) for RSPH14 Gene

Structural Variations from Database of Genomic Variants (DGV) for RSPH14 Gene

Variant ID Type Subtype PubMed ID
dgv19e24 CNV loss 17666407
dgv747n67 CNV loss 20364138
dgv748n67 CNV loss 20364138
dgv8037n54 CNV gain 21841781
dgv8038n54 CNV loss 21841781
dgv824e199 CNV deletion 23128226
esv24055 CNV loss 19812545
esv2658091 CNV deletion 23128226
esv2666115 CNV deletion 23128226
esv29480 CNV loss 19812545
esv33083 CNV gain+loss 17666407
esv33363 CNV gain+loss 17666407
esv34158 CNV loss 18971310
esv3557968 CNV deletion 23714750
esv3647390 CNV gain 21293372
esv3647392 CNV gain 21293372
esv3647393 CNV loss 21293372
esv3893457 CNV gain 25118596
esv999926 CNV gain 20482838
nsv1061433 CNV gain+loss 25217958
nsv1066891 CNV gain 25217958
nsv1071782 CNV deletion 25765185
nsv1124862 CNV duplication 24896259
nsv1131653 CNV deletion 24896259
nsv3573 CNV deletion 18451855
nsv511644 CNV loss 21212237
nsv512647 CNV loss 21212237
nsv521695 CNV loss 19592680
nsv525485 CNV loss 19592680
nsv588512 CNV loss 21841781
nsv588589 CNV gain 21841781
nsv588593 CNV gain 21841781
nsv588594 CNV loss 21841781
nsv588595 CNV loss 21841781
nsv7350 OTHER inversion 18451855
nsv819622 CNV loss 19587683
nsv953050 CNV deletion 24416366
nsv955468 CNV deletion 24416366

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)

Additional Variant Information for RSPH14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSPH14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH14 Gene

Disorders for RSPH14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RSPH14 Gene - From: DISEASES

Disorder Aliases PubMed IDs
thrombocytopenia-absent radius syndrome
  • tar
duodenum adenocarcinoma
  • duodenal adenocarcinoma
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with RSPH14: view

No data available for 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 … Biegel JA (Gene 2000) 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RSPH14 Gene

  • Signalway Proteins for RSPH14

Sources for RSPH14 Gene