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    RSPH10B2 radial spoke head 10 homolog B2 [ Homo sapiens (human) ]

    Gene ID: 728194, updated on 3-Apr-2024

    Summary

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    Official Symbol
    RSPH10B2provided by HGNC
    Official Full Name
    radial spoke head 10 homolog B2provided by HGNC
    Primary source
    HGNC:HGNC:34385
    See related
    Ensembl:ENSG00000169402 AllianceGenome:HGNC:34385
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Restricted expression toward testis (RPKM 17.8) See more
    Orthologs
    all
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    Genomic context

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    Location:
    7p22.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6752100..6798765)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6873233..6917958)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6793734..6838396)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene speedy/RINGO cell cycle regulator family member E20, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6768255-6769230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17959 Neighboring gene PMS2 C-terminal like (pseudogene) Neighboring gene CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated Neighboring gene Sharpr-MPRA regulatory region 9278 Neighboring gene olfactory receptor family 7 subfamily E member 39 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella. Zhu X, et al. Cold Spring Harb Perspect Biol, 2017 May 1. PMID 27940518, Free PMC Article
    2. Axonemal radial spokes: 3D structure, function and assembly. Pigino G, et al. Bioarchitecture, 2012 Feb 1. PMID 22754630, Free PMC Article
    3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36092, FLJ54347, FLJ95901

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in 9+2 motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    radial spoke head 10 homolog B2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001099697.2 → NP_001093167.1  radial spoke head 10 homolog B2

      See identical proteins and their annotated locations for NP_001093167.1

      Status: VALIDATED

      Source sequence(s)
      AC073343, AC079882
      Consensus CDS
      CCDS43552.1
      UniProtKB/Swiss-Prot
      B2RC85, B2RXI4, B2RXJ0
      Related
      ENSP00000386102.1, ENST00000404077.6
      Conserved Domains (1) summary
      PLN03185
      Location:106 → 320
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      6752100..6798765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446908.2 → XP_024302676.1  radial spoke head 10 homolog B2 isoform X8

      Conserved Domains (2) summary
      PLN03185
      Location:128 → 318
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG4642
      Location:86 → 162
      COG4642; Uncharacterized conserved protein [Function unknown]

    2. XM_024446904.2 → XP_024302672.1  radial spoke head 10 homolog B2 isoform X3

      Conserved Domains (2) summary
      PLN03185
      Location:128 → 318
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG4642
      Location:86 → 162
      COG4642; Uncharacterized conserved protein [Function unknown]

    3. XM_024446906.2 → XP_024302674.1  radial spoke head 10 homolog B2 isoform X5

      Conserved Domains (2) summary
      PLN03185
      Location:128 → 318
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG4642
      Location:86 → 162
      COG4642; Uncharacterized conserved protein [Function unknown]

    4. XM_024446905.2 → XP_024302673.1  radial spoke head 10 homolog B2 isoform X4

      Conserved Domains (1) summary
      PLN03185
      Location:106 → 320
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    5. XM_047420783.1 → XP_047276739.1  radial spoke head 10 homolog B2 isoform X4

    6. XM_047420782.1 → XP_047276738.1  radial spoke head 10 homolog B2 isoform X1

    7. XM_024446903.2 → XP_024302671.1  radial spoke head 10 homolog B2 isoform X2

      UniProtKB/Swiss-Prot
      B2RC85, B2RXI4, B2RXJ0
      Conserved Domains (1) summary
      PLN03185
      Location:106 → 320
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    8. XM_024446902.2 → XP_024302670.1  radial spoke head 10 homolog B2 isoform X1

      Conserved Domains (2) summary
      PLN03185
      Location:128 → 318
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG4642
      Location:86 → 162
      COG4642; Uncharacterized conserved protein [Function unknown]

    9. XM_006715766.3 → XP_006715829.1  radial spoke head 10 homolog B2 isoform X1

      See identical proteins and their annotated locations for XP_006715829.1

      Conserved Domains (2) summary
      PLN03185
      Location:128 → 318
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG4642
      Location:86 → 162
      COG4642; Uncharacterized conserved protein [Function unknown]

    10. XM_011515493.2 → XP_011513795.1  radial spoke head 10 homolog B2 isoform X1

      See identical proteins and their annotated locations for XP_011513795.1

      Conserved Domains (2) summary
      PLN03185
      Location:128 → 318
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG4642
      Location:86 → 162
      COG4642; Uncharacterized conserved protein [Function unknown]

    11. XM_011515491.2 → XP_011513793.1  radial spoke head 10 homolog B2 isoform X1

      See identical proteins and their annotated locations for XP_011513793.1

      Conserved Domains (2) summary
      PLN03185
      Location:128 → 318
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      COG4642
      Location:86 → 162
      COG4642; Uncharacterized conserved protein [Function unknown]

    12. XM_047420784.1 → XP_047276740.1  radial spoke head 10 homolog B2 isoform X7

    13. XM_005249833.5 → XP_005249890.1  radial spoke head 10 homolog B2 isoform X6

      UniProtKB/TrEMBL
      B3KSE9
      Conserved Domains (1) summary
      PLN03185
      Location:11 → 126
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      6873233..6917958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358906.1 → XP_054214881.1  radial spoke head 10 homolog B2 isoform X1

    2. XM_054358911.1 → XP_054214886.1  radial spoke head 10 homolog B2 isoform X3

    3. XM_054358912.1 → XP_054214887.1  radial spoke head 10 homolog B2 isoform X4

    4. XM_054358910.1 → XP_054214885.1  radial spoke head 10 homolog B2 isoform X2

    5. XM_054358908.1 → XP_054214883.1  radial spoke head 10 homolog B2 isoform X1

    6. XM_054358913.1 → XP_054214888.1  radial spoke head 10 homolog B2 isoform X5

    7. XM_054358916.1 → XP_054214891.1  radial spoke head 10 homolog B2 isoform X8

    8. XM_054358907.1 → XP_054214882.1  radial spoke head 10 homolog B2 isoform X1

    9. XM_054358909.1 → XP_054214884.1  radial spoke head 10 homolog B2 isoform X1

    10. XM_054358914.1 → XP_054214889.1  radial spoke head 10 homolog B2 isoform X6

    11. XM_054358915.1 → XP_054214890.1  radial spoke head 10 homolog B2 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B2RC85.2 GenPept UniProtKB/Swiss-Prot:B2RC85

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