RSPH10B2 Gene (Protein Coding)

Radial Spoke Head 10 Homolog B2

GC07P006793
GIFtS:
26
This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanoch... See more...

Aliases for RSPH10B2 Gene

Aliases for RSPH10B2 Gene

  • Radial Spoke Head 10 Homolog B2 2 3 4 5
  • Radial Spoke Head 10 Homolog B2 (Chlamydomonas) 2
  • Radial Spoke Head 10 Homolog B 3

External Ids for RSPH10B2 Gene

Previous GeneCards Identifiers for RSPH10B2 Gene

  • GC07P006761

Summaries for RSPH10B2 Gene

Entrez Gene Summary for RSPH10B2 Gene

  • This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes. [provided by RefSeq, Jul 2017]

GeneCards Summary for RSPH10B2 Gene

RSPH10B2 (Radial Spoke Head 10 Homolog B2) is a Protein Coding gene. Diseases associated with RSPH10B2 include Ciliary Dyskinesia, Primary, 13. An important paralog of this gene is RSPH10B.

Gene Wiki entry for RSPH10B2 Gene

Additional gene information for RSPH10B2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RSPH10B2 Gene

Genomics for RSPH10B2 Gene

GeneHancer (GH) Regulatory Elements for RSPH10B2 Gene

Promoters and enhancers for RSPH10B2 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
GH07J006754 Promoter 0.7 EPDnew Ensembl 500.7 +0.1 92 0.8 RSPH10B2 piR-43948-002 RF00017-6041 RF00017-6031 PMS2CL lnc-RSPH10B2-1 RF00017-6035
GH07J006792 Enhancer 0.8 Ensembl ENCODE 0.3 +38.4 38393 1.8 FOXK2 SKI FOXA2 SAP130 SMAD4 BCL6 RARA NR2F6 ARID4B MLX ZNF12 RF00017-6031 lnc-CCZ1B-1 RSPH10B2 RF00017-6035
GH07J006795 Enhancer 0.2 Ensembl 0.3 +40.4 40393 0.2 RF00017-6031 lnc-CCZ1B-1 CCZ1B RSPH10B2 RF00017-6035
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RSPH10B2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RSPH10B2

Top Transcription factor binding sites by QIAGEN in the RSPH10B2 gene promoter:
  • AP-1
  • c-Myc
  • COMP1
  • E47
  • E4BP4
  • GR
  • GR-alpha
  • GR-beta
  • Hlf
  • Max1

Genomic Locations for RSPH10B2 Gene

Genomic Locations for RSPH10B2 Gene
chr7:6,754,108-6,799,365
(GRCh38/hg38)
Size:
45,258 bases
Orientation:
Plus strand
chr7:6,793,740-6,838,996
(GRCh37/hg19)
Size:
45,257 bases
Orientation:
Plus strand

Genomic View for RSPH10B2 Gene

Genes around RSPH10B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPH10B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPH10B2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RSPH10B2 Gene

Proteins for RSPH10B2 Gene

Products:

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  2. Protein
  3. Assay

  • Protein details for RSPH10B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B2RC85-R10B2_HUMAN
    Recommended name:
    Radial spoke head 10 homolog B2
    Protein Accession:
    B2RC85
    Secondary Accessions:
    • A6NMW7
    • B2RXI4
    • B2RXJ0
    • Q86ST9
    • Q8NE68

    Protein attributes for RSPH10B2 Gene

    Size:
    870 amino acids
    Molecular mass:
    100547 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG37482.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RSPH10B2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPH10B2 Gene

Post-translational modifications for RSPH10B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH10B2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RSPH10B2 Gene

Domains & Families for RSPH10B2 Gene

Gene Families for RSPH10B2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RSPH10B2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH10B2 Gene

GenScript: Design optimal peptide antigens:
  • Radial spoke head 10 homolog B2 (R10B2_HUMAN)
genes like me logo Genes that share domains with RSPH10B2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RSPH10B2 Gene

Function for RSPH10B2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Phenotypes From GWAS Catalog for RSPH10B2 Gene

Phenotypes for RSPH10B2 Gene

GenomeRNAi human phenotypes for RSPH10B2:
genes like me logo Genes that share phenotypes with RSPH10B2: view

Animal Model Products

CRISPR Products

Clone 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 RSPH10B2 Gene

Localization for RSPH10B2 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 RSPH10B2 gene
Compartment Confidence
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
peroxisome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for RSPH10B2 Gene

Pathways & Interactions for RSPH10B2 Gene

PathCards logo

SuperPathways for RSPH10B2 Gene

No Data Available

Interacting Proteins for RSPH10B2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000384766 B2RC85-R10B2_HUMAN for RSPH10B2 Gene via STRING IID

GPS-Prot Interaction Network for RSPH10B2
;

Gene Ontology (GO) - Biological Process for RSPH10B2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RSPH10B2 Gene

Drugs & Compounds for RSPH10B2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for RSPH10B2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RSPH10B2 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH10B2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14
SP1: -
SP2: - -
SP3: -
SP4:
SP5: -

Relevant External Links for RSPH10B2 Gene

GeneLoc Exon Structure for
RSPH10B2

Expression for RSPH10B2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RSPH10B2 Gene

mRNA expression in normal human tissues for RSPH10B2 Gene
mRNA expression by GTEx for RSPH10B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RSPH10B2 Gene

This gene is overexpressed in Testis (x26.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RSPH10B2

SOURCE GeneReport for Unigene cluster for RSPH10B2 Gene:

Hs.710326
genes like me logo Genes that share expression patterns with RSPH10B2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RSPH10B2 Gene

Orthologs for RSPH10B2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RSPH10B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LOC738574 30
  • 98.68 (n)
-- 31
  • 98 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia RSPH10B 30
  • 81.36 (n)
-- 31
  • 76 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia RSPH10B 30
  • 79.52 (n)
-- 31
  • 74 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Rsph10b 30
  • 76.84 (n)
mouse
(Mus musculus)
 Mammalia Rsph10b 17 31 30
  • 76.42 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 67 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 63 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves RSPH10B 30
  • 60.76 (n)
-- 31
  • 46 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 59 (a)
 ManyToMany
-- 31
  • 49 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia rsph10b 30
  • 59.47 (n)
zebrafish
(Danio rerio)
 Actinopterygii zgc:153062 30
  • 56.75 (n)
RSPH10B 31
  • 42 (a)
 OneToMany
Species where no ortholog for RSPH10B2 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 RSPH10B2 Gene

ENSEMBL:
Gene Tree for RSPH10B2 (if available)
TreeFam:
Gene Tree for RSPH10B2 (if available)

Paralogs for RSPH10B2 Gene

Paralogs for RSPH10B2 Gene

(5) SIMAP similar genes for RSPH10B2 Gene using alignment to 3 proteins:

  • R10B2_HUMAN
  • C9JJN2_HUMAN
  • H0YFY2_HUMAN
genes like me logo Genes that share paralogs with RSPH10B2: view

Variants for RSPH10B2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RSPH10B2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs17855578 - p.Glu836Lys

Additional dbSNP identifiers (rs#s) for RSPH10B2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RSPH10B2 Gene

Variant ID Type Subtype PubMed ID
dgv1864e212 CNV loss 25503493
dgv1865e212 CNV loss 25503493
dgv1866e212 CNV loss 25503493
dgv1867e212 CNV loss 25503493
dgv6241n100 CNV gain 25217958
dgv6243n100 CNV loss 25217958
esv2752174 CNV gain 17911159
esv2759504 CNV loss 17122850
esv2762647 CNV gain 21179565
esv33385 CNV gain 17666407
esv3571591 CNV loss 25503493
esv3571605 CNV loss 25503493
nsv1017061 CNV loss 25217958
nsv1034916 CNV gain 25217958
nsv1074069 CNV deletion 25765185
nsv1077484 CNV duplication 25765185
nsv1141527 CNV duplication 24896259
nsv1147398 CNV duplication 26484159
nsv1153955 CNV duplication 26484159
nsv436904 CNV insertion 17901297
nsv7392 OTHER inversion 18451855
nsv8037 CNV gain 18304495
nsv8040 CNV gain 18304495
nsv830892 CNV loss 17160897
nsv830894 CNV loss 17160897
nsv966754 CNV duplication 23825009
nsv970789 CNV duplication 23825009

Variation tolerance for RSPH10B2 Gene

Gene Damage Index Score: 6.01; 74.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RSPH10B2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSPH10B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH10B2 Gene

Disorders for RSPH10B2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RSPH10B2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 13
  • cild13
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RSPH10B2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RSPH10B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RSPH10B2 Gene

Publications for RSPH10B2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  3. Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella. (PMID: 27940518) Zhu X … Yang P (Cold Spring Harbor perspectives in biology 2017) 3 54
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  5. Axonemal radial spokes: 3D structure, function and assembly. (PMID: 22754630) Pigino G … Ishikawa T (Bioarchitecture 2012) 3 54

ExternalLinks

View latest publications for RSPH10B2 gene in Mastermind

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