Seroatlas · Human Serome Atlas

FAM20A

Pseudokinase FAM20A

Also known as: DKFZp434F2322, FA20A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96MK3
Gene
FAM20A
Ensembl
ENSG00000108950
Chromosome
17
Canonical length
541 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Secretome location
Secreted in other tissues

OverviewNCBI Gene

This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

541 residues, UniProt reviewed canonical sequence.

>Q96MK3|FAM20A
     1  MPGLRRDRLL TLLLLGALLS ADLYFHLWPQ VQRQLRPRER PRGCPCTGRA SSLARDSAAA
    61  ASDPGTIVHN FSRTEPRTEP AGGSHSGSSS KLQALFAHPL YNVPEEPPLL GAEDSLLASQ
   121  EALRYYRRKV ARWNRRHKMY REQMNLTSLD PPLQLRLEAS WVQFHLGINR HGLYSRSSPV
   181  VSKLLQDMRH FPTISADYSQ DEKALLGACD CTQIVKPSGV HLKLVLRFSD FGKAMFKPMR
   241  QQRDEETPVD FFYFIDFQRH NAEIAAFHLD RILDFRRVPP TVGRIVNVTK EILEVTKNEI
   301  LQSVFFVSPA SNVCFFAKCP YMCKTEYAVC GNPHLLEGSL SAFLPSLNLA PRLSVPNPWI
   361  RSYTLAGKEE WEVNPLYCDT VKQIYPYNNS QRLLNVIDMA IFDFLIGNMD RHHYEMFTKF
   421  GDDGFLIHLD NARGFGRHSH DEISILSPLS QCCMIKKKTL LHLQLLAQAD YRLSDVMRES
   481  LLEDQLSPVL TEPHLLALDR RLQTILRTVE GCIVAHGQQS VIVDGPVEQL APDSGQANLT
   541  S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM20A 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
0
Mean surface accessibility (rSASA)
0.32
Highest tissue expression
24 nTPM

Expression across tissuesHPA

Tissue

  • liver: 24 nTPM
  • salivary gland: 11 nTPM
  • cervix: 8.2 nTPM
  • lung: 7.1 nTPM
  • kidney: 7 nTPM
  • endometrium: 6.2 nTPM

Single-cell type

  • hofbauer cells: 486 nCPM
  • renal collecting duct principal cells: 318 nCPM
  • late spermatids: 311 nCPM
  • epicardial cells: 218 nCPM
  • salivary acinar cells: 218 nCPM
  • alveolar cells type 2: 212 nCPM

Immune cell

  • neutrophil: 0.3 nTPM
  • non-classical monocyte: 0.2 nTPM
  • plasmacytoid DC: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM

Brain region

  • thalamus: 9.6 nTPM
  • choroid plexus: 7 nTPM
  • midbrain: 5 nTPM
  • medulla oblongata: 3.4 nTPM
  • cerebral cortex: 3.1 nTPM
  • hypothalamus: 2.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM20A.

Disease | AllUniProt

Conditions FAM20A is implicated in, by any mechanism.

Disease | GeneticClinVar

46 pathogenic / likely-pathogenic of 360 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)
0.87
gnomAD pLI
0
gnomAD missense Z
-0.02
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 FAM20A 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 FAM20A as an antibody target. Whether an autoantibody or antibody against FAM20A could matter depends on whether native FAM20A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM20A is annotated as secreted, so native FAM20A 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 FAM20A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FAM20A. 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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