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

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Variation

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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

G32696 (e-PCR)
- UniSTS:117278

PSMD9_1060.2 (e-PCR)
- UniSTS:280932

SHGC-148598 (e-PCR)
- UniSTS:173029

RH92394 (e-PCR)
- UniSTS:84465

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

NG_021364.2 RefSeqGene

Range

5036..90363

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...