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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
External Ids for RSPH10B2 Gene
- HGNC: 34385
- Entrez Gene: 728194
- Ensembl: ENSG00000169402
- UniProtKB: B2RC85
Previous GeneCards Identifiers for RSPH10B2 Gene
- GC07P006761
Summaries 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.
Additional gene information for RSPH10B2 Gene
- HGNC(34385)
- Entrez Gene(728194)
- Ensembl(ENSG00000169402)
- UniProtKB(B2RC85)
- Open Targets Platform(ENSG00000169402)
- Search for RSPH10B2 at DataMed
- Search for RSPH10B2 at HumanCyc
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 Pubs
Promoters and enhancers for RSPH10B2 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 RSPH10B2 on the GeneHancer Hub at the UCSC Golden Path
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
- chr7:6,754,109-6,799,365
- (GRCh38/hg38)
- Size:
- 45,257 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:
-
- 7p22.1 by HGNC
- 7p22.1 by Entrez Gene
- 7p22.1 by Ensembl
RSPH10B2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RSPH10B2 Gene
Proteins for RSPH10B2 Gene
-
Protein details for RSPH10B2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- B2RC85-R10B2_HUMAN
- Recommended name:
- Radial spoke head 10 homolog B2
- Protein Accession:
- B2RC85
- A6NMW7
- B2RXI4
- B2RXJ0
- Q86ST9
- Q8NE68
Protein attributes for RSPH10B2 Gene
- Size:
- 870 amino acids
- Molecular mass:
- 100547 Da
- Quaternary structure:
-
- Interacts with RSPH6A.
- SequenceCaution:
-
- Sequence=BAG37482.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Post-translational modifications for RSPH10B2 Gene
Other Protein References for RSPH10B2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- antibodies-online: Show 3 available RSPH10B2 Antibodies ranked by validation data
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RSPH10B2
- Origene Custom Protein Services for RSPH10B2
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
Suggested Antigen Peptide Sequences for RSPH10B2 Gene
- GenScript: Design optimal peptide antigens:
-
- Radial spoke head 10 homolog B2 (R10B2_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RSPH10B2 Gene
Function for RSPH10B2 Gene
Phenotypes From GWAS Catalog for RSPH10B2 Gene
Phenotypes for RSPH10B2 Gene
- GenomeRNAi human phenotypes for RSPH10B2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RSPH10B2 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for RSPH10B2
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miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RSPH10B2
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Clone Products
- Applied Biological Materials (abm): Clones for RSPH10B2 - Select products 50% OFF >
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-
OriGene ORF clones in human for RSPH10B2
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- Sino Biological Human cDNA Clone for RSPH10B2
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Cell Line Products
-
Horizon Cell Lines for RSPH10B2
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
| Compartment | Confidence |
|---|---|
| plasma membrane | 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
Interacting Proteins for RSPH10B2 Gene
GPS-Prot Interaction Network for RSPH10B2
No data available for Pathways by source and SIGNOR curated interactions for RSPH10B2 Gene
Transcripts for RSPH10B2 Gene
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 :
-
- ENST00000297186 2923 nts (view in UCSC)
- ENST00000403107 3220 nts (view in UCSC)
- ENST00000404077 3106 nts (view in UCSC)
- ENST00000418406 596 nts (view in UCSC)
- ENST00000435395 627 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RSPH10B2 - Select products 50% OFF >
- * RSPH10B2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RSPH10B2
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miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RSPH10B2
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Clone Products
- Applied Biological Materials (abm): Clones for RSPH10B2 - Select products 50% OFF >
- * RSPH10B2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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-
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| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
-
Testis (Reproductive System)
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.710326Primer Products
-
OriGene qPCR primer pairs for RSPH10B2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LOC738574 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | RSPH10B 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | RSPH10B 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Rsph10b 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Rsph10b 30 17 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | RSPH10B 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rsph10b 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | zgc:153062 30 |
|
||
| RSPH10B 31 |
|
OneToMany |
- Species where no ortholog for RSPH10B2 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 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)
Paralogs for RSPH10B2 Gene
Variants for RSPH10B2 Gene
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 |
|---|---|---|---|---|---|
| 770736 | Benign: not provided | 6,779,690(+) | C/T | MISSENSE_VARIANT | |
| rs17855578 | - | p.Glu836Lys |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH10B2 Gene
Disorders for RSPH10B2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ciliary dyskinesia, primary, 13 |
|
|
Search RSPH10B2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RSPH10B2
No data available for UniProtKB/Swiss-Prot and Genatlas for RSPH10B2 Gene
Publications for RSPH10B2 Gene
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 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
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
- Axonemal radial spokes: 3D structure, function and assembly. (PMID: 22754630) Pigino G … Ishikawa T (Bioarchitecture 2012) 3
ExternalLinks
Products for RSPH10B2 Gene
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- OriGene qPCR primer pairs for RSPH10B2
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- antibodies-online: Show 3 available RSPH10B2 Antibodies ranked by validation data
- antibodies-online: Search results for available RSPH10B2 related products ranked by validation data
- antibodies-online: Search results for available RSPH10B2 related products ranked by validation data
- Horizon Cell Lines for RSPH10B2
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Sources for RSPH10B2 Gene
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