Seroatlas · Human Serome Atlas

FUZ

Protein fuzzy homolog

Also known as: CPLANE3, FLJ22688, FUZZY_HUMAN, Fy

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

Protein identityUniProt · HPA

UniProt accession
Q9BT04
Gene
FUZ
Ensembl
ENSG00000010361
Chromosome
19
Canonical length
418 aa
Protein class
Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]

Canonical amino-acid sequenceUniProt

418 residues, UniProt reviewed canonical sequence.

>Q9BT04|FUZ
     1  MGEEGTGGTV HLLCLAASSG VPLFCRSSRG GAPARQQLPF SVIGSLNGVH MFGQNLEVQL
    61  SSARTENTTV VWKSFHDSIT LIVLSSEVGI SELRLERLLQ MVFGAMVLLV GLEELTNIRN
   121  VERLKKDLRA SYCLIDSFLG DSELIGDLTQ CVDCVIPPEG SLLQEALSGF AEAAGTTFVS
   181  LVVSGRVVAA TEGWWRLGTP EAVLLPWLVG SLPPQTARDY PVYLPHGSPT VPHRLLTLTL
   241  LPSLELCLLC GPSPPLSQLY PQLLERWWQP LLDPLRACLP LGPRALPSGF PLHTDILGLL
   301  LLHLELKRCL FTVEPLGDKE PSPEQRRRLL RNFYTLVTST HFPPEPGPPE KTEDEVYQAQ
   361  LPRACYLVLG TEEPGTGVRL VALQLGLRRL LLLLSPQSPT HGLRSLATHT LHALTPLL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FUZ 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)
0.27
Highest tissue expression
76 nTPM

Expression across tissuesHPA

Tissue

  • testis: 76 nTPM
  • kidney: 21 nTPM
  • choroid plexus: 20 nTPM
  • spinal cord: 20 nTPM
  • skeletal muscle: 19 nTPM
  • fallopian tube: 18 nTPM

Single-cell type

  • late spermatids: 3,323 nCPM
  • early spermatids: 1,419 nCPM
  • late primary spermatocytes: 573 nCPM
  • epididymal efferent duct ciliated cells: 99 nCPM
  • respiratory ciliated cells: 93 nCPM
  • fallopian tube ciliated cells: 88 nCPM

Immune cell

  • eosinophil: 18 nTPM
  • plasmacytoid DC: 15 nTPM
  • neutrophil: 11 nTPM
  • basophil: 7.1 nTPM
  • naive B-cell: 6 nTPM
  • memory B-cell: 5.3 nTPM

Brain region

  • basal ganglia: 22 nTPM
  • white matter: 21 nTPM
  • medulla oblongata: 21 nTPM
  • choroid plexus: 20 nTPM
  • spinal cord: 20 nTPM
  • midbrain: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FUZ.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 96 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.91
gnomAD pLI
0
gnomAD missense Z
0.44
DepMap mean gene effect
-0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

FUZ 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 FUZ as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FUZ. 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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