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 WDR66 Gene

Aliases for WDR66 Gene

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

External Ids for WDR66 Gene

Previous GeneCards Identifiers for WDR66 Gene

  • GC12P120820
  • GC12P122356
  • GC12P119367
  • GC12P121951
  • GC12P121954
  • GC12P122345
  • GC12P122426
  • GC12P121959
  • GC12P121966
  • GC12P121972
  • GC12P122005
  • GC12P122080
  • GC12P122112
  • GC12P122187
  • GC12P122267

Summaries for WDR66 Gene

Entrez Gene Summary for WDR66 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 WDR66 Gene

WDR66 (WD Repeat Domain 66) is a Protein Coding gene. Diseases associated with WDR66 include Spermatogenic Failure 33 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EML5.

UniProtKB/Swiss-Prot Summary for WDR66 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 WDR66 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR66 Gene

Genomics for WDR66 Gene

GeneHancer (GH) Regulatory Elements for WDR66 Gene

Promoters and enhancers for WDR66 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 789 0.0 -43 1.8 CTCF RAD21 MNT NKRF MLLT1 CREM POLR2A RELA ZBTB33 IKZF1 WDR66 SETD1B piR-53685 PSMD9 ENSG00000256950
GH12J121921 Promoter/Enhancer 0.5 EPDnew Ensembl 788.6 +2.8 2844 1.6 WDR66 RF00017-1316 ENSG00000256950
GH12J121916 Enhancer 0.4 ENCODE 763.8 -1.6 -1607 0.2 CTCF RAD21 ZIC2 REST WDR66 piR-53685 PSMD9 ENSG00000256950
GH12J122020 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29 +104.3 104291 4.9 ZNF785 SIN3A ZNF24 ZBTB40 MLX USF2 CREB1 MIXL1 NFYC L3MBTL2 BCL7A WDR66 LINC01089 KNTC1 SETD1B PSMD9 VPS33A ZCCHC8 RSRC2 DIABLO
GH12J121887 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 30.3 -29.3 -29256 3 GTF3C2 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 MLX PSMD9 ENSG00000256950 HPD ENSG00000287493 RF02000-003 lnc-HPD-3 KNTC1 ZCCHC8 RSRC2 SETD1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR66 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WDR66 gene promoter:
  • MRF-2
  • Nkx2-5
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B

Genomic Locations for WDR66 Gene

Genomic Locations for WDR66 Gene
chr12:121,918,557-122,003,927
(GRCh38/hg38)
Size:
85,371 bases
Orientation:
Plus strand
chr12:122,355,768-122,441,833
(GRCh37/hg19)
Size:
86,066 bases
Orientation:
Plus strand

Genomic View for WDR66 Gene

Genes around WDR66 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR66 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR66 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR66 Gene

Proteins for WDR66 Gene

  • Protein details for WDR66 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 WDR66 Gene

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

    Alternative splice isoforms for WDR66 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR66 Gene

Post-translational modifications for WDR66 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WDR66 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WDR66 Gene

Domains & Families for WDR66 Gene

Gene Families for WDR66 Gene

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

Suggested Antigen Peptide Sequences for WDR66 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat-containing protein 66 (WDR66_HUMAN)
genes like me logo Genes that share domains with WDR66: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for WDR66 Gene

Function for WDR66 Gene

Molecular function for WDR66 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 WDR66 Gene

Gene Ontology (GO) - Molecular Function for WDR66 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with WDR66: view
genes like me logo Genes that share phenotypes with WDR66: view

Human Phenotype Ontology for WDR66 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR66 Gene

Localization for WDR66 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR66 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 WDR66 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
plasma membrane 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for WDR66 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 WDR66: view

Pathways & Interactions for WDR66 Gene

PathCards logo

SuperPathways for WDR66 Gene

No Data Available

Interacting Proteins for WDR66 Gene

Selected Interacting proteins: Q8TBY9-CF251_HUMAN for WDR66 Gene via IID

Gene Ontology (GO) - Biological Process for WDR66 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement ISS,IBA --
GO:0030317 flagellated sperm motility IMP 30122540
genes like me logo Genes that share ontologies with WDR66: view

No data available for Pathways by source and SIGNOR curated interactions for WDR66 Gene

Drugs & Compounds for WDR66 Gene

No Compound Related Data Available

Transcripts for WDR66 Gene

mRNA/cDNA for WDR66 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR66 Gene

No ASD Table

Relevant External Links for WDR66 Gene

GeneLoc Exon Structure for
WDR66
ECgene alternative splicing isoforms for
WDR66

Expression for WDR66 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WDR66 Gene

mRNA differential expression in normal tissues according to GTEx for WDR66 Gene

This gene is overexpressed in Testis (x7.8) and Pituitary (x4.6).

Protein differential expression in normal tissues from HIPED for WDR66 Gene

This gene is overexpressed in Pancreatic juice (37.9), Heart (20.8), and Testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR66 Gene



Protein tissue co-expression partners for WDR66 Gene

NURSA nuclear receptor signaling pathways regulating expression of WDR66 Gene:

WDR66

SOURCE GeneReport for Unigene cluster for WDR66 Gene:

Hs.709837

mRNA Expression by UniProt/SwissProt for WDR66 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 WDR66 Gene

  • Spleen(4.1)
genes like me logo Genes that share expression patterns with WDR66: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR66 Gene

Orthologs for WDR66 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR66 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR66 33 32
  • 98.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR66 33 32
  • 84.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WDR66 33 32
  • 83.53 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr66 17 33 32
  • 79.8 (n)
rat
(Rattus norvegicus)
Mammalia Wdr66 32
  • 79.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WDR66 33
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WDR66 33
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR66 33 32
  • 60.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR66 33
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr66 32
  • 58.1 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr66 33 32
  • 54.5 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007799 32
  • 43.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 44 (a)
OneToOne
Species where no ortholog for WDR66 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 WDR66 Gene

ENSEMBL:
Gene Tree for WDR66 (if available)
TreeFam:
Gene Tree for WDR66 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR66: view image

Paralogs for WDR66 Gene

Paralogs for WDR66 Gene

genes like me logo Genes that share paralogs with WDR66: view

Variants for WDR66 Gene

Sequence variations from dbSNP and Humsavar for WDR66 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1565912409 pathogenic, SPERMATOGENIC FAILURE 33, asthenozoospermia, dysplasia of the mitochondrial sheath, multiple morphologic abnormalities of the sperm flagellum 121,957,126(+) CT/ coding_sequence_variant, frameshift
rs199671406 pathogenic, SPERMATOGENIC FAILURE 33, Male infertility with teratozoospermia due to single gene mutation, Non-syndromic male infertility due to sperm motility disorder 121,921,636(+) G/T coding_sequence_variant, stop_gained
rs749163856 pathogenic, SPERMATOGENIC FAILURE 33, Male infertility with teratozoospermia due to single gene mutation, Non-syndromic male infertility due to sperm motility disorder 121,921,425(+) AAAA/AAA coding_sequence_variant, frameshift
rs77540055 benign, not specified 121,934,277(+) G/A coding_sequence_variant, missense_variant
rs78910014 benign, not specified 121,949,042(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for WDR66 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 WDR66 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 WDR66 Gene

Human Gene Mutation Database (HGMD)
WDR66
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR66

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR66 Gene

Disorders for WDR66 Gene

MalaCards: The human disease database

(9) MalaCards diseases for WDR66 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search WDR66 in MalaCards View complete list of genes associated with diseases

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 mutations affecting the gene represented in this entry.

Additional Disease Information for WDR66

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with WDR66: view

No data available for Genatlas for WDR66 Gene

Publications for WDR66 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 56
  2. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 43 56
  3. A genome-wide association study of metabolic traits in human urine. (PMID: 21572414) Suhre K … Nauck M (Nature genetics 2011) 3 43 56
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 43 56
  5. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PMID: 19820697) Soranzo N … Gieger C (Nature genetics 2009) 3 43 56

Products for WDR66 Gene

Sources for WDR66 Gene