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

Gene ID: 129881, updated on 11-Apr-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
Expression
Restricted expression toward testis (RPKM 36.5) See more
Orthologs
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Genomic context

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Location:
2q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169645425..169694405, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170122581..170174007, complement)
105.20220307 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
  • 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. 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
  3. 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
  4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
  5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

See all (7) 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

Component Evidence Code Pubs
located_in axonemal B tubule inner sheath IEA
Inferred from Electronic Annotation
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
  

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_2023_10

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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