CFAP251 (cilia and flagella associated protein 251)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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144406 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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Cilia and flagella associated protein 251 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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CFAP251 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CaM-IP4, SPGF33, WDR66 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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SPGF33 |
Chromosome
Chromosome number
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12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q24.31 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein | |||||||||||
UniProt ID | Q8TBY9 | ||||||||||
Protein name | Cilia- and flagella-associated protein 251 (WD repeat-containing protein 66) | ||||||||||
Protein 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). {ECO:0000250|UniProtKB:A8IRK7, ECO:0000250|UniProtKB:Q24DE2, E | ||||||||||
PDB | 8J07 | ||||||||||
Family and domains |
Pfam
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Tissue specificity | 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). Isofo | ||||||||||
Sequence |
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Sequence length | 1149 | ||||||||||
Interactions | View interactions |
Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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