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    CFAP210 cilia and flagella associated protein 210 [ Homo sapiens (human) ]

    Gene ID: 129881, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CFAP210provided by HGNC
    Official Full Name
    cilia and flagella associated protein 210provided by HGNC
    Primary source
    HGNC:HGNC:25064
    See related
    Ensembl:ENSG00000154479 AllianceGenome:HGNC:25064
    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
    Also known as
    C2orf77; CCDC173
    Summary
    Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 36.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP210 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169645425..169694405, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170122581..170174007, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170501935..170550915, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170393950-170394098 Neighboring gene FAST kinase domains 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:170429982-170430584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16741 Neighboring gene peptidylprolyl isomerase G Neighboring gene MPRA-validated peak3919 silencer Neighboring gene CYFIP related Rac1 interactor B pseudogene Neighboring gene PHOSPHO2-KLHL23 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12082 Neighboring gene phosphatase, orphan 2 Neighboring gene uncharacterized LOC124906089

    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 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. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
    2. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
    3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal B tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in axonemal microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella- associated protein 210
    Names
    coiled-coil domain containing 173
    coiled-coil domain-containing protein 173
    protein CFAP210

    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_001085447.2 → NP_001078916.1  cilia- and flagella- associated protein 210

      See identical proteins and their annotated locations for NP_001078916.1

      Status: VALIDATED

      Source sequence(s)
      AC016772, BC117445, BQ432665, CB250451
      Consensus CDS
      CCDS46445.1
      UniProtKB/Swiss-Prot
      Q0VFZ6, Q6PJF6
      UniProtKB/TrEMBL
      B4DX81
      Related
      ENSP00000391504.1, ENST00000447353.6
      Conserved Domains (1) summary
      pfam13868
      Location:148 → 480
      TPH; Trichohyalin-plectin-homology domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      169645425..169694405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443327.1 → XP_047299283.1  cilia- and flagella- associated protein 210 isoform X3

    2. XM_011510590.2 → XP_011508892.1  cilia- and flagella- associated protein 210 isoform X2

      Conserved Domains (1) summary
      pfam13868
      Location:67 → 399
      TPH; Trichohyalin-plectin-homology domain

    3. XM_047443326.1 → XP_047299282.1  cilia- and flagella- associated protein 210 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      170122581..170174007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340497.1 → XP_054196472.1  cilia- and flagella- associated protein 210 isoform X3

    2. XM_054340496.1 → XP_054196471.1  cilia- and flagella- associated protein 210 isoform X2

    3. XM_054340495.1 → XP_054196470.1  cilia- and flagella- associated protein 210 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VFZ6.2 GenPept UniProtKB/Swiss-Prot:Q0VFZ6

    Gene LinkOut

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