FAP (Fibroblast Activation Protein) Gene

A serine protease involved in tissue remodeling, cancer-associated fibroblast function, and potential therapeutic target.

Gene Information Card

Symbol FAP
Full Name Fibroblast Activation Protein Alpha
Gene Type Protein coding
Chromosomal Location 2q24.2
NCBI Gene ID 2191 ncbi.nlm.nih.gov/gene/2191
Ensembl ID ENSG00000178098
UniProt ID Q12884
OMIM ID 600403
HGNC ID 3590
Aliases FAPalpha, Seprase, DPPIV-related protein, FAPA

Description

The FAP gene encodes fibroblast activation protein alpha, a type II transmembrane serine protease belonging to the dipeptidyl peptidase IV (DPPIV) family. It is selectively expressed on activated fibroblasts in wound healing, fibrosis, and the stroma of many epithelial cancers, where it promotes extracellular matrix remodeling, cell migration, and tumor progression. FAP is a recognized marker of cancer-associated fibroblasts (CAFs) and an emerging therapeutic target.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (multiple solid tumors) FAP expressed on CAFs promotes tumor growth, invasion, and immunosuppression via ECM degradation and cytokine modulation. High expression in tumor stroma; associated with poor prognosis in breast, colorectal, pancreatic, and lung cancers (NCBI, COSMIC).
Idiopathic Pulmonary Fibrosis FAP upregulation in lung fibroblasts contributes to excessive ECM deposition and fibrosis. Increased FAP activity in fibrotic lung tissue (UniProt, OMIM).
Rheumatoid Arthritis FAP expressed on synovial fibroblasts may drive joint destruction. Elevated FAP in synovial tissue of RA patients (NCBI).

Expression Profile

Tissue Expression
Tissue nTPM level
Lung 0.9 Low
Pancreas 0.6 Low
Breast 0.3 Low
Colon 0.2 Low
Skin 0.1 Low
Ovary 0.1 Low
Cell Line Expression
Cell Line nTPM Notes
CAFs (cancer-associated fibroblasts) High Strong expression in tumor stroma (UniProt).
HT-1080 (fibrosarcoma) Moderate Cell line model for FAP studies (COSMIC).
MRC-5 (lung fibroblast) Low Basal expression in normal fibroblasts (NCBI).
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.157G>A (p.Gly53Arg) Missense <0.01% Unknown; rare variant (ClinVar).
c.1126C>T (p.Arg376Trp) Missense <0.01% Unknown; rare variant (ClinVar).
c.2041G>A (p.Glu681Lys) Missense <0.01% Unknown; rare variant (ClinVar).
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in FAP; homozygous knockout mice are viable with mild phenotypes.

Gain of Function (GOF)

Overexpression in CAFs is considered a gain-of-function in tumor microenvironment; no activating point mutations described.

Dominant Negative (DN)

Not reported for FAP.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/2191
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=FAP

Gene Ontology (GO)

• GO:0004252 – serine-type endopeptidase activity • GO:0008236 – serine-type peptidase activity
• GO:0005576 – extracellular region • GO:0005886 – plasma membrane
• GO:0006508 – proteolysis • GO:0007155 – cell adhesion
• GO:0030198 – extracellular matrix organization

Pathways

• ECM degradation and remodeling (Reactome: R-HSA-1474228)
• Dipeptidyl peptidase IV (DPPIV) family signaling
• Cancer-associated fibroblast pathway

Protein Summary

Fibroblast activation protein alpha (FAP) is a 760-amino acid type II transmembrane glycoprotein with dipeptidyl peptidase and endopeptidase activity. It exists as a homodimer and cleaves post-proline bonds in substrates such as collagen, gelatin, and certain chemokines. FAP is minimally expressed in normal adult tissues but highly induced on activated fibroblasts in wound healing, fibrosis, and the stroma of over 90% of epithelial cancers. Its selective expression makes it a prime target for cancer imaging and therapy, including FAP-targeted radionuclides and immunotherapies.

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MFAP4 Knockout HEK293 Cell Line EDJ-KQ234 Human 4239 Details Get a Quote
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CFAP52 Knockout HEK293 Cell Line EDJ-KQ2367 Human 146845 Details Get a Quote
AFAP1L1 Knockout HEK293 Cell Line EDJ-KQ2528 Human 134265 Details Get a Quote
CFAP20DC Knockout HEK293 Cell Line EDJ-KQ3862 Human 200844 Details Get a Quote
CFAP410 Knockout HEK293 Cell Line EDJ-KQ4173 Human 755 Details Get a Quote
CFAP221 Knockout HEK293 Cell Line EDJ-KQ4480 Human 200373 Details Get a Quote
MFAP2 Knockout HEK293 Cell Line EDJ-KQ5204 Human 4237 Details Get a Quote
MFAP3 Knockout HEK293 Cell Line EDJ-KQ5205 Human 4238 Details Get a Quote
TFAP2A Knockout HEK293 Cell Line EDJ-KQ5917 Human 7020 Details Get a Quote
TFAP2B Knockout HEK293 Cell Line EDJ-KQ5918 Human 7021 Details Get a Quote
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MFAP3L Knockout HEK293 Cell Line EDJ-KQ6121 Human 9848 Details Get a Quote
Displaying Records 1 To 15 Of 272 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/2191
OMIM https://www.omim.org/entry/600403
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3590
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178098
UniProt https://www.uniprot.org/uniprot/Q12884
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=FAP%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=FAP
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