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

Gene ID: 144406, updated on 26-Nov-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
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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

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

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