CFAP52 (cilia and flagella associated protein 52)

Gene

• Entrez ID: 146845
• Gene name: Cilia and flagella associated protein 52
• Gene symbol: CFAP52
• Synonyms (NCBI Gene): HTX10, WDR16, WDRPUH
• 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)

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
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	IMP	33139725
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0010467	Process	Gene expression	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	33139725
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0051012	Process	Microtubule sliding	IEA
GO:0061966	Process	Establishment of left/right asymmetry	IMP	33139725
GO:0097225	Component	Sperm midpiece	IEA
GO:0097729	Component	9+2 motile cilium	IMP	33139725
GO:0160112	Component	Axonemal B tubule inner sheath	IEA
GO:0160112	Component	Axonemal B tubule inner sheath	ISS

Other IDs

• MIM: 609804
• HGNC: 16053
• e!Ensembl: ENSG00000166596

Protein

• UniProt ID: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Heterotaxy, visceral, 10, autosomal, with male infertility	Likely pathogenic	rs775639416	RCV003990462	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs inversus	Likely pathogenic	rs746987839	RCV001955677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CFAP52-related disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTAXY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculomotor apraxia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS TOTALIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISCERAL HETEROTAXY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	35637434	Associate	★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	35637434	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23434627	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	25469542	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	BEFREE	17394468, 25469542		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	25469542	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15967112		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	ORPHANET_DG	25469542		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs Inversus	Situs inversus	Pubtator	25469542, 32111882	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)