Seroatlas · Human Serome Atlas

CFAP52

Cilia- and flagella-associated protein 52

Also known as: CFA52_HUMAN, FLJ37528, WDR16, WDRPUH

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8N1V2
Gene
CFAP52
Ensembl
ENSG00000166596
Chromosome
17
Canonical length
620 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Microtubules,Primary cilium,Centriolar satellite,Basal body

OverviewNCBI Gene

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 [PubMed 15967112]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

620 residues, UniProt reviewed canonical sequence.

>Q8N1V2|CFAP52
     1  MDNKISPEAQ VAELELDAVI GFNGHVPTGL KCHPDQEHMI YPLGCTVLIQ AINTKEQNFL
    61  QGHGNNVSCL AISRSGEYIA SGQVTFMGFK ADIILWDYKN RELLARLSLH KGKIEALAFS
   121  PNDLYLVSLG GPDDGSVVVW SIAKRDAICG SPAAGLNVGN ATNVIFSRCR DEMFMTAGNG
   181  TIRVWELDLP NRKIWPTECQ TGQLKRIVMS IGVDDDDSFF YLGTTTGDIL KMNPRTKLLT
   241  DVGPAKDKFS LGVSAIRCLK MGGLLVGSGA GLLVFCKSPG YKPIKKIQLQ GGITSITLRG
   301  EGHQFLVGTE ESHIYRVSFT DFKETLIATC HFDAVEDIVF PFGTAELFAT CAKKDIRVWH
   361  TSSNRELLRI TVPNMTCHGI DFMRDGKSII SAWNDGKIRA FAPETGRLMY VINNAHRIGV
   421  TAIATTSDCK RVISGGGEGE VRVWQIGCQT QKLEEALKEH KSSVSCIRVK RNNEECVTAS
   481  TDGTCIIWDL VRLRRNQMIL ANTLFQCVCY HPEEFQIITS GTDRKIAYWE VFDGTVIREL
   541  EGSLSGSING MDITQEGVHF VTGGNDHLVK VWDYNEGEVT HVGVGHSGNI TRIRISPGNQ
   601  YIVSVSADGA ILRWKYPYTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP52 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.21
Highest tissue expression
54 nTPM

Expression across tissuesHPA

Tissue

  • fallopian tube: 54 nTPM
  • choroid plexus: 37 nTPM
  • testis: 12 nTPM
  • hippocampal formation: 6.4 nTPM
  • hypothalamus: 6.3 nTPM
  • basal ganglia: 5.7 nTPM

Single-cell type

  • ependymal cells: 555 nCPM
  • respiratory ciliated cells: 505 nCPM
  • fallopian tube ciliated cells: 370 nCPM
  • epididymal efferent duct ciliated cells: 250 nCPM
  • endometrial ciliated cells: 226 nCPM
  • choroid plexus epithelial cells: 119 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 37 nTPM
  • midbrain: 27 nTPM
  • medulla oblongata: 21 nTPM
  • spinal cord: 19 nTPM
  • white matter: 12 nTPM
  • pons: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP52.

Disease | AllUniProt

Conditions CFAP52 is implicated in, by any mechanism.

  • Heterotaxy, visceral, 10, autosomal, with male infertility (HTX10) MIM:619607

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 174 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Heterotaxy, visceral, 10, autosomal, with male infertility
  • Situs inversus

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.24
gnomAD pLI
0
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CFAP52 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP52 as an antibody target. Whether an autoantibody or antibody against CFAP52 could matter depends on whether native CFAP52 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP52 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CFAP52 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CFAP52. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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