Seroatlas · Human Serome Atlas

CFC1

Cryptic protein

Also known as: CFC1_HUMAN, CRYPTIC, HTX2

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

Protein identityUniProt · HPA

UniProt accession: P0CG37
Gene: CFC1
Ensembl: ENSG00000136698
Chromosome: 2
Canonical length: 223 aa
Protein class: Disease related genes, Human disease related genes, Predicted secreted proteins
Secretome location: Secreted - unknown location

OverviewNCBI Gene

Predicted to enable activin receptor binding activity and nodal binding activity. Predicted to be involved in circulatory system development; nodal signaling pathway; and regionalization. Predicted to act upstream of or within several processes, including heart development; left lung morphogenesis; and spleen development. Predicted to be active in cell surface and extracellular region. Implicated in tetralogy of Fallot and visceral heterotaxy. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

223 residues, UniProt reviewed canonical sequence.

>P0CG37|CFC1
     1  MTWRHHVRLL FTVSLALQII NLGNSYQREK HNGGREEVTK VATQKHRQSP LNWTSSHFGE
    61  VTGSAEGWGP EEPLPYSRAF GEGASARPRC CRNGGTCVLG SFCVCPAHFT GRYCEHDQRR
   121  SECGALEHGA WTLRACHLCR CIFGALHCLP LQTPDRCDPK DFLASHAHGP SAGGAPSLLL
   181  LLPCALLHRL LRPDAPAHPR SLVPSVLQRE RRPCGRPGLG HRL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFC1 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.58
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

pituitary gland: 36 nTPM
hypothalamus: 23 nTPM
pancreas: 18 nTPM
stomach: 6.7 nTPM
cerebellum: 6.3 nTPM
basal ganglia: 5.8 nTPM

Single-cell type

pancreatic islet cells: 56 nCPM
neuroendocrine cells: 33 nCPM
other brain neurons: 31 nCPM
somatotrophs: 13 nCPM
corticotrophs: 11 nCPM
retinal bipolar cells: 11 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

hypothalamus: 55 nTPM
midbrain: 18 nTPM
pons: 12 nTPM
thalamus: 12 nTPM
basal ganglia: 9.8 nTPM
spinal cord: 9.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFC1.

Disease | AllUniProt

Conditions CFC1 is implicated in, by any mechanism.

Heterotaxy, visceral, 2, autosomal (HTX2) MIM:605376

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 49 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Heterotaxy, visceral, 2, autosomal

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): 1.25
gnomAD pLI: 0.11
gnomAD missense Z: -0.22
DepMap mean gene effect: -0.13
DepMap dependency class: selective

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFC1 as an antibody target. Whether an autoantibody or antibody against CFC1 could matter depends on whether native CFC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFC1 is annotated at the cell surface, where native CFC1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CFC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...