CFAP251 Gene (Protein Coding)

Cilia And Flagella Associated Protein 251

GC12P123070
GIFtS:
28
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 thi... See more...

Aliases for CFAP251 Gene

Aliases for CFAP251 Gene

  • Cilia And Flagella Associated Protein 251 2 3 5
  • Cilia- And Flagella-Associated Protein 251 3 4
  • WD Repeat-Containing Protein 66 3 4
  • WD Repeat Domain 66 2 3
  • CaM-IP4 2 3
  • WDR66 3 4
  • MGC33630 2
  • CFAP251 5
  • SPGF33 3

External Ids for CFAP251 Gene

Previous HGNC Symbols for CFAP251 Gene

  • WDR66

Previous GeneCards Identifiers for CFAP251 Gene

  • GC12P122871

Summaries for CFAP251 Gene

Entrez Gene Summary for CFAP251 Gene

  • 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]

GeneCards Summary for CFAP251 Gene

CFAP251 (Cilia And Flagella Associated Protein 251) is a Protein Coding gene. Diseases associated with CFAP251 include Spermatogenic Failure 33 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. An important paralog of this gene is EML4.

UniProtKB/Swiss-Prot Summary for CFAP251 Gene

  • Involved in spermatozoa motility (PubMed:30122540, PubMed:30122541). May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity).

Additional gene information for CFAP251 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP251 Gene

Genomics for CFAP251 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CFAP251 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J121917 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 289 -0.1 -78 1.8 ETS1 CTCF ELF1 SIN3A MBD2 TRIM22 EBF1 SMC3 SMARCA5 MAX CFAP251 SETD1B piR-53685 HSALNG0094614 ENSG00000256950 PSMD9
GH12J121921 Promoter/Enhancer 0.5 EPDnew Ensembl 288.7 +2.8 2809 1.6 CFAP251 RF00017-1316 HSALNG0094614 ENSG00000256950 BCL7A
GH12J121916 Enhancer 0.5 ENCODE 263.8 -1.6 -1642 0.2 CTCF ZIC2 REST RAD21 SPI1 ZNF654 CFAP251 piR-53685 HSALNG0094614 ENSG00000256950 PSMD9
GH12J122020 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29 +104.3 104256 4.9 TBP MXD4 FEZF1 MNT SMAD5 MBD2 NONO MCM3 ZIC2 SIN3A BCL7A ENSG00000255856 LINC01089 CFAP251 RSRC2 KNTC1 SETD1B PSMD9 VPS33A ZCCHC8
GH12J121887 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 30.3 -29.3 -29291 3 CHD2 TBP SP1 ZBTB10 MXD4 FEZF1 CEBPA SIX5 NR2C1 MNT PSMD9 ENSG00000256950 ENSG00000287493 HPD RF02000-003 RSRC2 KNTC1 ZCCHC8 CFAP251 LINC01089
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP251 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP251

Genomic Locations for CFAP251 Gene

Latest Assembly
chr12:121,918,592-122,003,927
(GRCh38/hg38)
Size:
85,336 bases
Orientation:
Plus strand

Previous Assembly
chr12:122,356,498-122,441,825
(GRCh37/hg19 by Entrez Gene)
Size:
85,328 bases
Orientation:
Plus strand

chr12:122,355,768-122,441,833
(GRCh37/hg19 by Ensembl)
Size:
86,066 bases
Orientation:
Plus strand

Genomic View for CFAP251 Gene

Genes around CFAP251 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP251 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP251 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CFAP251 Gene

Proteins for CFAP251 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for CFAP251 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBY9-CF251_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 251
    Protein Accession:
    Q8TBY9
    Secondary Accessions:
    • C9J1W2
    • Q8IYA3
    • Q8N898
    • Q8NDE7

    Protein attributes for CFAP251 Gene

    Size:
    1149 amino acids
    Molecular mass:
    129952 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CFAP251 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP251 Gene

Post-translational modifications for CFAP251 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP251 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP251 Gene

Domains & Families for CFAP251 Gene

Gene Families for CFAP251 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CFAP251 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP251 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat-containing protein 66 (WDR66_HUMAN)
genes like me logo Genes that share domains with CFAP251: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFAP251 Gene

Function for CFAP251 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for CFAP251 Gene

UniProtKB/Swiss-Prot Function:
Involved in spermatozoa motility (PubMed:30122540, PubMed:30122541). May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity).

Phenotypes From GWAS Catalog for CFAP251 Gene

Gene Ontology (GO) - Molecular Function for CFAP251 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with CFAP251: view
genes like me logo Genes that share phenotypes with CFAP251: view

Human Phenotype Ontology for CFAP251 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP251

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP251 Gene

Localization for CFAP251 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP251 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, flagellum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFAP251 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFAP251 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001536 colocalizes_with radial spoke stalk ISS --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme ISS --
genes like me logo Genes that share ontologies with CFAP251: view

Pathways & Interactions for CFAP251 Gene

PathCards logo

SuperPathways for CFAP251 Gene

No Data Available

Interacting Proteins for CFAP251 Gene

Selected Interacting proteins: Q8TBY9-CF251_HUMAN for CFAP251 Gene via IID

GPS-Prot Interaction Network for CFAP251

Gene Ontology (GO) - Biological Process for CFAP251 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement ISS --
GO:0030317 flagellated sperm motility IMP 30122540
genes like me logo Genes that share ontologies with CFAP251: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP251 Gene

Drugs & Compounds for CFAP251 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for CFAP251 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for CFAP251 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP251

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP251 Gene

No ASD Table

Relevant External Links for CFAP251 Gene

GeneLoc Exon Structure for
CFAP251

Expression for CFAP251 Gene

Products:

  1. Primer products for research

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP251

SOURCE GeneReport for Unigene cluster for CFAP251 Gene:

Hs.709837

mRNA Expression by UniProt/SwissProt for CFAP251 Gene:

Q8TBY9-CF251_HUMAN
Tissue specificity: Isoform 1 is highly expressed in testis and, at lower levels, in lung. Very low levels are detected in kidney and brain (PubMed:30122540). In testis, expressed in spermatozoa (at protein level) (PubMed:30122540, PubMed:30122541). Isoform 2 is not detected in testis, lung, kidney, nor in brain (PubMed:30122540).

Evidence on tissue expression from TISSUES for CFAP251 Gene

  • Spleen(4.1)

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP251 Gene

Orthologs for CFAP251 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP251 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia WDR66 30 31
  • 98.96 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia WDR66 30 31
  • 84.15 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia WDR66 30 31
  • 83.53 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Wdr66 30 17 31
  • 79.8 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Wdr66 30
  • 79.23 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia WDR66 31
  • 57 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia WDR66 31
  • 53 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves WDR66 30 31
  • 60.68 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia WDR66 31
  • 44 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia wdr66 30
  • 58.1 (n)
Zebrafish
(Danio rerio)
 Actinopterygii wdr66 30 31
  • 54.5 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007799 30
  • 43.49 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 44 (a)
 OneToOne
Species where no ortholog for CFAP251 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CFAP251 Gene

ENSEMBL:
Gene Tree for CFAP251 (if available)
TreeFam:
Gene Tree for CFAP251 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP251: view image

Paralogs for CFAP251 Gene

Paralogs for CFAP251 Gene

genes like me logo Genes that share paralogs with CFAP251: view

Variants for CFAP251 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP251 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
586974 Pathogenic: Spermatogenic failure 33; Spermatogenic failure 18 121,994,800(+) AATCAGGGACACAAAC
NM_144668.6(CFAP251):c.3007-4915_3338-930del 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
932513 Uncertain Significance: not provided 122,001,545(+) T/C
NM_144668.6(CFAP251):c.3284T>C (p.Phe1095Ser) 		MISSENSE
rs12824001 -. - p.Glu61Glyp.Gly66Glu
rs1565912409 Pathogenic: dysplasia of the mitochondrial sheath; multiple morphologic abnormalities of the sperm flagellum; Spermatogenic failure 33; asthenozoospermia 121,957,125(+) CCT/C
NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs) 		FRAMESHIFT
rs199671406 Pathogenic: Non-syndromic male infertility due to sperm motility disorder; Male infertility with teratozoospermia due to single gene mutation; Spermatogenic failure 33 121,921,636(+) G/T
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFAP251 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CFAP251 Gene

Variant ID Type Subtype PubMed ID
esv2659581 CNV deletion 23128226
esv3630963 CNV loss 21293372
esv3630964 CNV loss 21293372
esv3630965 CNV gain 21293372

Variation tolerance for CFAP251 Gene

Residual Variation Intolerance Score: 80.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 22.16; 99.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP251 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP251

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP251 Gene

Disorders for CFAP251 Gene

MalaCards: The human disease database

(11) MalaCards diseases for CFAP251 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CF251_HUMAN
  • Spermatogenic failure 33 (SPGF33) [MIM:618152]: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including short, bent, curled, thick, or absent flagella. {ECO:0000269 PubMed:30122540, ECO:0000269 PubMed:30122541}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CFAP251

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CFAP251: view

No data available for Genatlas for CFAP251 Gene

Publications for CFAP251 Gene

  1. A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility. (PMID: 30122540) Kherraf ZE … Ray PF (American journal of human genetics 2018) 3 4 74
  2. A conserved CaM- and radial spoke associated complex mediates regulation of flagellar dynein activity. (PMID: 17967944) Dymek EE … Smith EF (The Journal of cell biology 2007) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. PTEN downregulates WD repeat‑containing protein 66 in salivary adenoid cystic carcinoma. (PMID: 30569117) Cao Y … Xiao J (Oncology reports 2019) 3
  5. Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility. (PMID: 30310178) Li W … Cao Y (Journal of human genetics 2019) 3

ExternalLinks

View latest publications for CFAP251 gene in Mastermind

Products for CFAP251 Gene

Sources for CFAP251 Gene