CFAP52 (cilia and flagella associated protein 52)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 146845
Gene name Cilia and flagella associated protein 52
Gene symbol CFAP52
Synonyms (NCBI Gene)
HTX10WDR16WDRPUH
Chromosome 17
Chromosome location 17p13.1
Summary WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15967112, 33139725
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005879 Component Axonemal microtubule IDA 36191189
GO:0005879 Component Axonemal microtubule ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609804 16053 ENSG00000166596
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N1V2
Protein name Cilia- and flagella-associated protein 52 (WD repeat-containing protein 16) (WD40-repeat protein up-regulated in HCC)
Protein function Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme (PubMed:36191189). Important for proper ciliary and flagellar beating. May act in cooperation with CFAP45 and axonemal dynein subunit DNAH1
PDB 7UNG , 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 54 → 97 WD domain, G-beta repeat Repeat
PF00400 WD40 101 → 141 WD domain, G-beta repeat Repeat
PF00400 WD40 451 → 489 WD domain, G-beta repeat Repeat
PF00400 WD40 534 → 573 WD domain, G-beta repeat Repeat
PF00400 WD40 577 → 615 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in respiratory cells and sperm (at protein level) (PubMed:33139725, PubMed:36191189). Highly expressed in testis (PubMed:15967112). Up-regulated in hepatocellular carcinoma (HCC) (PubMed:15967112). {ECO:0000269|PubMed:1596711
Sequence 
MDNKISPEAQVAELELDAVIGFNGHVPTGLKCHPDQEHMIYPLGCTVLIQAINTKEQNFL
QGHGNNVSCLAISRSGEYIASGQVTFMGFKADIILWDYKNRELLARLSLHKGKIEALAFS
PNDLYLVSLGGPDDGSVVVWSIAKRDAICGSPAAGLNVGNATNVIFSRCRDEMFMTAGNG
TIRVWELDLPNRKIWPTECQTGQLKRIVMSIGVDDDDSFFYLGTTTGDILKMNPRTKLLT
DVGPAKDKFSLGVSAIRCLKMGGLLVGSGAGLLVFCKSPGYKPIKKIQLQGGITSITLRG
EGHQFLVGTEESHIYRVSFTDFKETLIATCHFDAVEDIVFPFGTAELFATCAKKDIRVWH
TSSNRELLRITVPNMTCHGIDFMRDGKSIISAWNDGKIRAFAPETGRLMYVINNAHRIGV
TAIATTSDCKRVISGGGEGEVRVWQIGCQTQKLEEALKEHKSSVSCIRVKRNNEECVTAS
TDGTCIIWDLVRLRRNQMILANTLFQCVCYHPEEFQIITSGTDRKIAYWEVFDGTVIREL
EGSLSGSINGMDITQEGVHFVTGGNDHLVKVWDYNEGEVTHVGVGHSGNITRIRISPGNQ
YIVSVSADGAILRWKYPYTS
Sequence length 620
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
76
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Heterotaxy, visceral, 10, autosomal, with male infertility Likely pathogenic rs775639416 RCV003990462
Situs inversus Likely pathogenic rs746987839 RCV001955677
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CFAP52-related disorder Uncertain significance; Conflicting classifications of pathogenicity rs2508161198, rs2508438608, rs376170198, rs139646620 RCV003412040
RCV003397517
RCV003966444
RCV003955769
Familial cancer of breast Benign rs57409272 RCV005868655
Germ cell tumor of testis Benign rs73975761 RCV005907236
Lung cancer Benign rs73975761 RCV005907237
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35637434
Ciliary Motility Disorders Associate 35637434
Colorectal Neoplasms Associate 23434627
Heterotaxy Syndrome Associate 25469542
Hydrocephalus Associate 25469542
Kartagener Syndrome Associate 32111882
Late Onset Disorders Associate 25469542
Situs Inversus Associate 25469542, 32111882