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    CFAP251 cilia and flagella associated protein 251 [ Homo sapiens (human) ]

    Gene ID: 144406, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP251provided by HGNC
    Official Full Name
    cilia and flagella associated protein 251provided by HGNC
    Primary source
    HGNC:HGNC:28506
    See related
    Ensembl:ENSG00000158023 MIM:618146; AllianceGenome:HGNC:28506
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WDR66; SPGF33; CaM-IP4
    Summary
    This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
    Expression
    Biased expression in testis (RPKM 11.6), thyroid (RPKM 2.6) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP251 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (121918592..122003919)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (121914890..121999723)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122356498..122441825)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:122293687-122294886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122297907-122298424 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122298425-122298941 Neighboring gene Sharpr-MPRA regulatory region 2080 Neighboring gene 4-hydroxyphenylpyruvate dioxygenase Neighboring gene Sharpr-MPRA regulatory region 2229 Neighboring gene transcript inducer of AURKA lysosomal degradation Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:122326353-122326966 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:122326967-122327580 Neighboring gene proteasome 26S subunit, non-ATPase 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:122349577-122349733 Neighboring gene RNA, U7 small nuclear 170 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5001 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122362388-122363066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122396110-122396629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122396630-122397148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122409067-122409566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7195 Neighboring gene Sharpr-MPRA regulatory region 10891 Neighboring gene uncharacterized LOC124903038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122460343-122461158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7197 Neighboring gene BAF chromatin remodeling complex subunit BCL7A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122492684-122493298 Neighboring gene Sharpr-MPRA regulatory region 9922 Neighboring gene Sharpr-MPRA regulatory region 8907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7199 Neighboring gene long intergenic non-protein coding RNA 2985

    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. Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility. Li W, et al. J Hum Genet, 2019 Jan. PMID 30310178
    2. Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men. Auguste Y, et al. Am J Hum Genet, 2018 Sep 6. PMID 30122541, Free PMC Article
    3. Wdr66 is a novel marker for risk stratification and involved in epithelial-mesenchymal transition of esophageal squamous cell carcinoma. Wang Q, et al. BMC Cancer, 2013 Mar 21. PMID 23514407, Free PMC Article
    4. Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. Martinez G, et al. J Med Genet, 2020 Oct. PMID 32161152
    5. PTEN downregulates WD repeat‑containing protein 66 in salivary adenoid cystic carcinoma. Cao Y, et al. Oncol Rep, 2019 Mar. PMID 30569117, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
      Title: Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
    2. Eukaryotic initiation Factor 4AIII facilitates hepatocellular carcinoma cell proliferation, migration, and epithelial-mesenchymal transition process via antagonistically binding to WD repeat domain 66 with miRNA-2113.
      Title: Eukaryotic initiation Factor 4AIII facilitates hepatocellular carcinoma cell proliferation, migration, and epithelial-mesenchymal transition process via antagonistically binding to WD repeat domain 66 with miRNA-2113.
    3. WDR66 expression is regulated by Lin28a and FBXL19-AS1 in breast cancer.
      Title: LIN28A-stabilized FBXL19-AS1 promotes breast cancer migration, invasion and EMT by regulating WDR66.
    4. WDR66 as a gene associated with the MMAF phenotype and highlighting the importance of the WDR66 C-terminal region.
      Title: A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.
    5. Biallelic mutations of CFAP251 is associated with sperm flagellar defects and male infertility.
      Title: Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility.
    6. WDR66 expression was identified to be inversely associated with PTEN expression and negatively correlated with the overall survival of patients with salivary adenoid cystic carcinoma (SACC). Collectively, the results of the study revealed a novel function of WDR66 in mediating the progression of PTENdeficient SACCs.
      Title: PTEN downregulates WD repeat‑containing protein 66 in salivary adenoid cystic carcinoma.
    7. WDR66 expression is likely to play an important role in esophageal squamous cell carcinoma growth and invasion as a positive modulator of epithelial-mesenchymal transition.
      Title: Wdr66 is a novel marker for risk stratification and involved in epithelial-mesenchymal transition of esophageal squamous cell carcinoma.
    8. Analysis of indel variations in the human disease-associated genes CDKN2AIP, WDR66, USP20 and OR7C2 in a Korean population.
      Title: Analysis of indel variations in the human disease-associated genes CDKN2AIP, WDR66, USP20 and OR7C2 in a Korean population.
    9. Indicates that an intronic SNP in the WDR66 gene associates with 2-hydroxyisobutyrate concentrations.
      Title: A genome-wide association study of metabolic traits in human urine.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    Associated conditions

    Description Tests
    Spermatogenic failure 33
    MedGen: C4748395 OMIM: 618152 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    A genome-wide association study identifies three loci associated with mean platelet volume.
    EBI GWAS Catalog
    A genome-wide association study of metabolic traits in human urine.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: PSMD9

    Homology

    Clone Names

    • FLJ39783, MGC33630

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of radial spoke stalk ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 251
    Names
    WD repeat domain 66
    WD repeat-containing protein 66

    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.

    Genomic

    1. NG_021364.2 RefSeqGene

      Range
      5036..90363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178003.2 → NP_001171474.1  cilia- and flagella-associated protein 251 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA858079, AC069503, BC036233, CN480050
      Consensus CDS
      CCDS53840.1
      Related
      ENSP00000380595.2, ENST00000397454.2
      Conserved Domains (3) summary
      COG2319
      Location:283 → 717
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:555 → 604
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:606 → 920
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_144668.6 → NP_653269.3  cilia- and flagella-associated protein 251 isoform 1

      See identical proteins and their annotated locations for NP_653269.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC028421, BC036233, CA503090
      Consensus CDS
      CCDS41853.1
      UniProtKB/Swiss-Prot
      C9J1W2, Q8IYA3, Q8N898, Q8NDE7, Q8TBY9
      Related
      ENSP00000288912.4, ENST00000288912.9
      Conserved Domains (4) summary
      COG2319
      Location:283 → 717
      WD40; WD40 repeat [General function prediction only]
      COG5126
      Location:972 → 1087
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      sd00039
      Location:555 → 604
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:606 → 920
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      121918592..122003919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      121914890..121999723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBY9.2 GenPept UniProtKB/Swiss-Prot:Q8TBY9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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