Seroatlas · Human Serome Atlas

FAM20C

Extracellular serine/threonine protein kinase FAM20C

Also known as: DKFZp547D065, DMP4, FA20C_HUMAN, G-CK, IMAGE:4942737

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

Protein identityUniProt · HPA

UniProt accession
Q8IXL6
Gene
FAM20C
Ensembl
ENSG00000177706
Chromosome
7
Canonical length
584 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location
Nucleoplasm,Golgi apparatus
Secretome location
Secreted in other tissues
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

584 residues, UniProt reviewed canonical sequence.

>Q8IXL6|FAM20C
     1  MKMMLVRRFR VLILMVFLVA CALHIALDLL PRLERRGARP SGEPGCSCAQ PAAEVAAPGW
    61  AQVRGRPGEP PAASSAAGDA GWPNKHTLRI LQDFSSDPSS NLSSHSLEKL PPAAEPAERA
   121  LRGRDPGALR PHDPAHRPLL RDPGPRRSES PPGPGGDASL LARLFEHPLY RVAVPPLTEE
   181  DVLFNVNSDT RLSPKAAENP DWPHAGAEGA EFLSPGEAAV DSYPNWLKFH IGINRYELYS
   241  RHNPAIEALL HDLSSQRITS VAMKSGGTQL KLIMTFQNYG QALFKPMKQT REQETPPDFF
   301  YFSDYERHNA EIAAFHLDRI LDFRRVPPVA GRMVNMTKEI RDVTRDKKLW RTFFISPANN
   361  ICFYGECSYY CSTEHALCGK PDQIEGSLAA FLPDLSLAKR KTWRNPWRRS YHKRKKAEWE
   421  VDPDYCEEVK QTPPYDSSHR ILDVMDMTIF DFLMGNMDRH HYETFEKFGN ETFIIHLDNG
   481  RGFGKYSHDE LSILVPLQQC CRIRKSTYLR LQLLAKEEYK LSLLMAESLR GDQVAPVLYQ
   541  PHLEALDRRL RVVLKAVRDC VERNGLHSVV DDDLDTEHRA ASAR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM20C 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
Secreted
Secreted
Yes
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
32 nTPM

Expression across tissuesHPA

Tissue

  • liver: 32 nTPM
  • blood vessel: 29 nTPM
  • colon: 25 nTPM
  • stomach: 23 nTPM
  • kidney: 20 nTPM
  • breast: 19 nTPM

Single-cell type

  • proximal tubule cells: 213 nCPM
  • renal collecting duct principal cells: 140 nCPM
  • podocytes: 100 nCPM
  • renal connecting tubule cells: 89 nCPM
  • renal collecting duct intercalated cells: 43 nCPM
  • papillary tip epithelial cells: 42 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

  • thalamus: 33 nTPM
  • medulla oblongata: 32 nTPM
  • midbrain: 26 nTPM
  • amygdala: 20 nTPM
  • pons: 20 nTPM
  • cerebral cortex: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM20C.

Disease | AllUniProt

Conditions FAM20C is implicated in, by any mechanism.

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 577 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)
0.49
gnomAD pLI
0.31
gnomAD missense Z
1.02
DepMap mean gene effect
-0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 FAM20C 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 FAM20C as an antibody target. Whether an autoantibody or antibody against FAM20C could matter depends on whether native FAM20C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM20C is annotated as secreted, so native FAM20C circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label FAM20C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FAM20C. 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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