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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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See RSPH10B2 in Genome Data Viewer
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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