CAMP

gene
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Also known as CAP18FALL39FALL-39LL37

Summary

CAMP (cathelicidin antimicrobial peptide, HGNC:1472) is a protein-coding gene on chromosome 3p21.31, encoding Cathelicidin antimicrobial peptide (P49913). Antimicrobial protein that is an integral component of the innate immune system.

This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. The protein plays an important role in innate immunity defense against viruses. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation.

Source: NCBI Gene 820 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 13 total
  • MANE Select transcript: NM_004345

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:1472
Approved symbolCAMP
Namecathelicidin antimicrobial peptide
Location3p21.31
Locus typegene with protein product
StatusApproved
AliasesCAP18, FALL39, FALL-39, LL37
Ensembl geneENSG00000164047
Ensembl biotypeprotein_coding
OMIM600474
Entrez820

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000296435, ENST00000652295

RefSeq mRNA: 1 — MANE Select: NM_004345 NM_004345

CCDS: CCDS2762

Canonical transcript exons

ENST00000652295 — 4 exons

ExonStartEnd
ENSE000010808574822435448224461
ENSE000010808594822460348224674
ENSE000038907714822349548223712
ENSE000038910424822529348225485

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 99.67.

FANTOM5 (CAGE): breadth broad, TPM avg 62.9825 / max 54276.2149, expressed in 215 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
3656857.790895
365664.2130147
365650.803112
365670.17564

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
trabecular bone tissueUBERON:000248399.67gold quality
bone marrowUBERON:000237199.59gold quality
bone marrow cellCL:000209299.38gold quality
cauda epididymisUBERON:000436099.22gold quality
corpus epididymisUBERON:000435997.30gold quality
bloodUBERON:000017890.46gold quality
granulocyteCL:000009488.64gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.77gold quality
monocyteCL:000057684.03gold quality
leukocyteCL:000073883.91gold quality
mononuclear cellCL:000084283.76gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099181.17gold quality
spleenUBERON:000210676.33gold quality
olfactory segment of nasal mucosaUBERON:000538674.22gold quality
parotid glandUBERON:000183171.71silver quality
male germ cellCL:000001571.17silver quality
spermCL:000001970.69gold quality
right lungUBERON:000216770.05gold quality
cartilage tissueUBERON:000241869.92gold quality
secondary oocyteCL:000065569.39gold quality
lymph nodeUBERON:000002969.38gold quality
adult organismUBERON:000702367.46gold quality
endometrium epitheliumUBERON:000481167.44gold quality
upper lobe of left lungUBERON:000895267.09gold quality
caput epididymisUBERON:000435866.76gold quality
nasal cavity mucosaUBERON:000182666.35gold quality
upper arm skinUBERON:000426365.97gold quality
jejunal mucosaUBERON:000039965.69gold quality
oocyteCL:000002365.23gold quality
upper lobe of lungUBERON:000894865.23gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-CURD-112yes28959.36
E-MTAB-9801yes24552.70
E-ANND-3yes11.19

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BCL3, CEBPA, CEBPB, CEBPE, HR, NR0B1, TCF3, VDR, WT1

Literature-anchored findings (GeneRIF, showing 40)

  • CAP-18 up-regulates 29 genes as well as the expression of chemokines in macrophages and mouse lung, human A549 epithelial cells, and whole human blood, without stimulating the proinflammatory cytokine TNF alpha; and it downregulates another 20 genes. (PMID:12244186)
  • study showed the presence of intact cationic antimicrobial protein-18 in sperm, prostasomes and ultracentrifuged seminal plasma; may have an important role in antimicrobial defence during human reproduction (PMID:12351523)
  • degradation and inactivation by proteinases of pathogenic bacteria (PMID:12366839)
  • high levels are produced in skin in vivo upon wounding; results suggest its C-terminal fragment LL-37 plays a part in wound closure and that its reduction in chronic wounds impairs re-epithelialization and may contribute to their failure to heal (PMID:12603850)
  • human cathelicidin (LL-37/hCAP/18) and beta-defensin-2 demonstrated synergistic antimicrobial activity and efficiently killed group B Streptococcus, an important neonatal pathogen. (PMID:12612195)
  • human cathelicidin represents an elegant multifunctional effector molecule for innate immune defense of the skin (PMID:12713586)
  • human cathelicidin antimicrobial peptide-18 in seminal plasma is processed to generate a 38-amino acid antimicrobial peptide ALL-38 by the prostate-derived protease gastricsin when incubated at a pH corresponding to the vaginal pH (PMID:12759353)
  • LL37 has a toroidal pore mechanism of lipid bilayer disruption (PMID:12767238)
  • LL-37/hCAP-18 is a multifunctional antimicrobial peptide with a central role in innate immunity by linking host defense and inflammation with angiogenesis and arteriogenesis (PMID:12782669)
  • antibacterial peptides may modulate the inflammatory responses by recruiting mast cells to inflammation foci and inducing the degranulation as well as prostaglandin production from this cell population–REVIEW (PMID:14561157)
  • After secretion onto the skin surface, CAMP is processed by a serine protease-dependent mechanism into multiple novel antimicrobial peptides distinct from the cathelicidin LL-37, with enhanced antimicrobial action. (PMID:14978112)
  • Cathelicidin LL-37 induces activation of both the p38 and ERK1/2 kinases in monocytes and epithelial cells. (PMID:15004180)
  • Endogenous LL37 may promote interleukin-1 beta processing and release via direct activation of monocyte P2X7 purinoceptors. (PMID:15067080)
  • the hydrophobic core of lipid bilayers is perturbed by the human antimicrobial peptide LL-37 (PMID:15222757)
  • Proteus mirabilis ZapA metalloprotease readily cleaves LL37 and this proteolysis results in significantly reduced bactericidal activity (PMID:15322010)
  • Lipopolysaccharide and lipoteichoic acid both increased hCAP-18/LL-37 expression in cultured sinus epithelium as assessed by immunohistochemistry, where maximal stimulation occurred at 100 ng ml(-1) lipopolysaccharide or 10 microg ml(-1) lipoteichoic (PMID:15364108)
  • identified as component of human trypanosome lytic factor 1 (TLF1) (PMID:15500911)
  • cathelicidin is secreted in mammary gland and human milk, has antimicrobial activity against both Gram-positive and Gram-negative bacteria, and can contribute to the anti-infectious properties of milk (PMID:15531744)
  • Effects of neutrophil defensins and hCAP-18/LL-37 on airway epithelial cells. (review) (PMID:15591123)
  • hCAP18/LL-37 may promote tumor cell growth in breast cancer (PMID:15609314)
  • LL-37 may prevent sepsis and be useful in lower doses for treating sepsis. However, LL-37 appears to have adverse effects when used at higher doses for treating sepsis. (PMID:15645239)
  • In contrast to beta-defensin-1 and -2, LL-37 mRNA expression is not detected in neonatal airway epithelial cultures. (PMID:15661923)
  • fluorescent bacteria colocalize with cathelicidin in granules both intracellularly and at the cell surface in keratinocytes (PMID:15675959)
  • its deficiency in acute myeloid leukemia may be one of the explanations for susceptibility to infection among these patients. (PMID:15717688)
  • proteolytic processing may alter the balance between cathelicidin antimicrobial and host immunostimulatory functions (PMID:15778390)
  • The human cathelicidin hCAP-18/LL-37 peptide is reviewed in detail in the context of its role in lung physiology and defense. (PMID:15778507)
  • ASK1-p38 cascade regulates the innate immunity of the skin by forming an immune barrier consisting of hBD, LL37, and TLR2 during epidermal differentiation. (PMID:15864780)
  • results in this study suggest that Neisseria gonorrhoeae may gain a survival advantage in the female genital tract by downregulating LL-37 expression (PMID:15953032)
  • Human cathelicidin LL-37 activates normal human keratinocytes to secrete IL-18 (PMID:16034119)
  • LL-37 induces keratinocyte migration via heparin-binding-epidermal growth factor (EGF)-mediated transactivation of the EGF receptor (PMID:16177113)
  • Induced-sputum innate immune factor levels discriminate inflammatory changes in cystic fibrosis, COPD, and asthma. (PMID:16236890)
  • proposition that the natural human host defense peptide LL-37 plays roles in the delicate balancing of inflammatory responses in homeostasis as well as in combating sepsis induced by certain TLR agonists (PMID:16456005)
  • LL-37 not only kills bacteria, but also modulates/suppresses neutrophil apoptosis via the activation of formyl-peptide receptor-like 1 and P2X7 purinergic receptor in bacterial infections. (PMID:16493063)
  • reported here that Toll-like receptor activation of macrophages up-regulated expression of the vitamin D receptor and the vitamin D-1-hydroxylase genes, leading to induction of cathelicidin and killing of intracellular Mycobacterium tuberculosis (PMID:16497887)
  • role of cathelicidin in host susceptibility to HSV infection (PMID:16630942)
  • LL-37 is produced in atherosclerotic lesions, where it may function as an immune modulator by activating adhesion molecule and chemokine expression, thus enhancing innate immunity in atherosclerosis. (PMID:16645154)
  • LL-37 is a regulator of the inflammatory process in various inflammatory lung diseases by enhancing IL-8 production. (PMID:16750994)
  • Data describe the production and function of the cathelicidin antimicrobial peptides LL-37, its precursor hCAP-18 and its ortholog CRAMP in epithelial cells of human and mouse urinary tract, respectively. (PMID:16751768)
  • LL-37, released upon triggering of innate immunity, may affect cellular adaptive immunity through interaction with immature dendritic cells. (PMID:16764694)
  • Human gingival epithelial cells constitutively express hBD1 and inducibly express hBD2, hBD3, and CAP18 on exposure to A. actinomycetemcomitans. (PMID:16926414)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusCampENSMUSG00000038357
rattus_norvegicusCampENSRNOG00000020733

Protein

Protein identifiers

Cathelicidin antimicrobial peptideP49913 (reviewed: P49913)

Alternative names: 18 kDa cationic antimicrobial protein

All UniProt accessions (3): A0A384NPR0, P49913, J3KNB4

UniProt curated annotations — full annotation on UniProt →

Function. Antimicrobial protein that is an integral component of the innate immune system. Binds to bacterial lipopolysaccharides (LPS). Acts via neutrophil N-formyl peptide receptors to enhance the release of CXCL2. Postsecretory processing generates multiple cathelicidin antimicrobial peptides with various lengths which act as a topical antimicrobial defense in sweat on skin. The unprocessed precursor form, cathelicidin antimicrobial peptide, inhibits the growth of Gram-negative E.coli and E.aerogenes with efficiencies comparable to that of the mature peptide LL-37 (in vitro). Antimicrobial peptide that is an integral component of the innate immune system. Binds to bacterial lipopolysaccharides (LPS). Causes membrane permeabilization by forming transmembrane pores (in vitro). Causes lysis of E.coli. Exhibits antimicrobial activity against Gram-negative bacteria such as P.aeruginosa, S.typhimurium, E.aerogenes, E.coli and P.syringae, Gram-positive bacteria such as L.monocytogenes, S.epidermidis, S.pyogenes and S.aureus, as well as vancomycin-resistant enterococci (in vitro). Exhibits antimicrobial activity against methicillin-resistant S.aureus, P.mirabilis, and C.albicans in low-salt media, but not in media containing 100 mM NaCl (in vitro). Forms chiral supramolecular assemblies with quinolone signal (PQS) molecules of P.aeruginosa, which may lead to interference of bacterial quorum signaling and perturbance of bacterial biofilm formation. May form supramolecular fiber-like assemblies on bacterial membranes. Induces cytokine and chemokine production as well as TNF/TNFA and CSF2/GMCSF production in normal human keratinocytes. Exhibits hemolytic activity against red blood cells. Exhibits antimicrobial activity against E.coli and B.megaterium (in vitro). Acts synergistically with peptides KS-30 and KR-31, killing bacteria such as S.aureus, E.coli and C.albicans at lower concentrations when present together, and maintains activity at increased salt condition. Does not have the ability to stimulate CXCL8/IL8 release from keratinocytes. Poorly active (MIC > 150 uM) against E.coli strain K12. Is able to induce the pro-inflammatory cytokine TNF/TNFA or the chemokine CCL2/MCP1. Moderately antibacterial. Moderately antibacterial. Acts synergistically with peptides KR-20 and KR-31, killing bacteria such as S.aureus, E.coli and C.albicans at lower concentrations when present together, and maintain activity at increased salt condition. Does not have the ability to stimulate CXCL8/IL8 release from keratinocytes. Acts synergistically with peptides KS-30 and KR-31, killing bacteria such as S.aureus, E.coli and C.albicans at lower concentrations when present together, and maintain activity at increased salt condition. Does not have the ability to stimulate CXCL8/IL8 release from keratinocytes. Inhibits the growth of E.coli and B.megaterium and exhibits hemolytic activity against human red blood cells.

Subunit / interactions. Monomer, homodimer or homotrimer (in vitro). Oligomerizes as tetra- or hexamer in solution (in vitro).

Subcellular location. Secreted. Vesicle.

Tissue specificity. Expressed in neutrophilic granulocytes (at protein level). Expressed in bone marrow. Expressed in granulocytes (at protein level). Expressed by the eccrine apparatus and secreted into sweat on skin (at protein level). Expressed in bone marrow and testis.

Post-translational modifications. The N-terminus is blocked. Proteolytically cleaved by proteinase PRTN3 into antibacterial peptide LL-37. Proteolytically cleaved by cathepsin CTSG and neutrophil elastase ELANE. Resistant to proteolytic degradation in solution, and when bound to both zwitterionic (mimicking mammalian membranes) and negatively charged membranes (mimicking bacterial membranes). After secretion onto the skin surface, the CAMP gene product is processed by a serine protease-dependent mechanism into multiple novel antimicrobial peptides distinct from and shorter than cathelicidin LL-37, such as peptides KR-20 (residues 151-170), LL-23 (residues 134-156), LL-29 (residues 134-162), KS-30 (residues 141-170), RK-31 (residues 140-170) and FF-33 (residues 138-170). The peptides act synergistically, killing bacteria at lower concentrations when present together, and maintain activity at increased salt condition.

Domain organisation. The cathelin-like domain (CLD), which is the propeptide part, does not seem to exhibit auto-inhibitory function, as it does not inhibit the antibacterial activity of antibacterial peptide LL-37. Undergoes conformational change in the presence of lipid A, transitioning from a random coil to an alpha-helical structure. Residues 17-29 of LL-37 represent the active core of the antimicrobial peptide. Forms ribbon-like fibrils and exhibits antibacterial activity against Gram-positive M.luteus (MIC=22-25 uM) and S.hominis (MIC=39 uM). Also exhibits antibacterial activity against Gram-negative E.coli (MIC=47 uM) and P.fluorescens (MIC=136 uM).

Miscellaneous. The propeptide shows high sequence homology to cathelin, a protein of 96 residues isolated from porcine neutrophils, and is therefore also named cathelin-like domain (CLD). Cathelin was initially classified into the cystatin family of cysteine protease inhibitors based on its inhibitory activity against cathepsin L. Human CLD itself lacks antimicrobial function and does not inhibit the cysteine protease, cathepsin L.

Similarity. Belongs to the cathelicidin family.

RefSeq proteins (1): NP_004336* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001894Cathelicidin-likeFamily
IPR018216Cathelicidin_CSConserved_site
IPR022746Cathlecidin_CDomain
IPR046350Cystatin_sfHomologous_superfamily

Pfam: PF00666, PF12153

UniProt features (38 total): mutagenesis site 17, peptide 8, strand 4, helix 3, disulfide bond 2, signal peptide 1, propeptide 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

20 structures.

PDBMethodResolution (Å)
5NMNX-RAY DIFFRACTION0.95
6S6MX-RAY DIFFRACTION1.35
7NPQX-RAY DIFFRACTION1.5
5NNKX-RAY DIFFRACTION1.8
7PDCX-RAY DIFFRACTION1.83
4EYCX-RAY DIFFRACTION1.9
5NNMX-RAY DIFFRACTION1.9
7SAYX-RAY DIFFRACTION2.1
6BIXX-RAY DIFFRACTION2.2
5NNTX-RAY DIFFRACTION2.21
8DEWELECTRON MICROSCOPY2.89
6BIVX-RAY DIFFRACTION2.9
2FBSSOLUTION NMR
2FBUSOLUTION NMR
2FCGSOLUTION NMR
2K6OSOLUTION NMR
2LMFSOLUTION NMR
2NA3SOLUTION NMR
5XNGSOLUTION NMR
5XRXSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P49913-F179.740.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (2): 86–97, 108–125

Mutagenesis-validated functional residues (17):

PositionPhenotype
142slightly increased mic against e.coli k12 (mic=15 compared to mic=5).
142slightly increased mic against e.coli k12 (mic=25 compared to mic=5).
149disrupts oligomerization. loss of antimicrobial activity.
150loss of antimicrobial activity against m.luteus.
151loss of antimicrobial activity against m.luteus.
151reduced antimicrobial activity against m.luteus.
151no impact on antimicrobial activity against m.luteus.
155no impact on antimicrobial activity against m.luteus.
156impacts oligomerization. loss of antimicrobial activity.
157loss of antimicrobial activity against m.luteus.
160loss of antimicrobial activity against m.luteus.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

IDPathway
R-HSA-6798695Neutrophil degranulation
R-HSA-6803157Antimicrobial peptides
R-HSA-168249Innate Immune System
R-HSA-168256Immune System

MSigDB gene sets: 269 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_INFLAMMATORY_RESPONSE, GOBP_POSITIVE_REGULATION_OF_INTERLEUKIN_8_PRODUCTION, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOCC_SECRETORY_GRANULE, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_INSULIN_SECRETION, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_HORMONE_LEVELS

GO Biological Process (34): innate immune response in mucosa (GO:0002227), prostaglandin production involved in inflammatory response (GO:0002539), positive regulation of antimicrobial humoral response (GO:0002760), positive regulation of cell population proliferation (GO:0008284), response to glucose (GO:0009749), leukotriene biosynthetic process (GO:0019370), antibacterial humoral response (GO:0019731), cytolysis (GO:0019835), positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725), positive regulation of interleukin-1 beta production (GO:0032731), positive regulation of tumor necrosis factor production (GO:0032760), positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774), neutrophil activation (GO:0042119), defense response to bacterium (GO:0042742), negative regulation of apoptotic process (GO:0043066), innate immune response (GO:0045087), positive regulation of angiogenesis (GO:0045766), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), obsolete killing by host of symbiont cells (GO:0051873), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), cellular response to lipopolysaccharide (GO:0071222), cellular response to peptidoglycan (GO:0071224), cellular response to interleukin-1 (GO:0071347), cellular response to interleukin-6 (GO:0071354), cellular response to tumor necrosis factor (GO:0071356), cellular response to exogenous dsRNA (GO:0071360), positive regulation of monocyte chemotactic protein-1 production (GO:0071639), positive regulation of macrophage inflammatory protein 1 alpha production (GO:0071642), dentinogenesis (GO:0097187), cellular response to butyrate (GO:1903545), amyloid fibril formation (GO:1990000), immune system process (GO:0002376), defense response (GO:0006952)

GO Molecular Function (2): lipopolysaccharide binding (GO:0001530), protein binding (GO:0005515)

GO Cellular Component (8): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), specific granule lumen (GO:0035580), specific granule (GO:0042581), cell projection (GO:0042995), extracellular exosome (GO:0070062), tertiary granule lumen (GO:1904724), vesicle (GO:0031982)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Innate Immune System2
Immune System1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
defense response to bacterium3
antimicrobial humoral response2
cellular anatomical structure2
mucosal immune response1
innate immune response1
arachidonate metabolite production involved in inflammatory response1
regulation of antimicrobial humoral response1
positive regulation of response to biotic stimulus1
positive regulation of humoral immune response1
positive regulation of defense response1
positive regulation of response to external stimulus1
cell population proliferation1
regulation of cell population proliferation1
positive regulation of cellular process1
response to hexose1
leukotriene metabolic process1
icosanoid biosynthetic process1
cellular process1
positive regulation of cytokine production1
granulocyte macrophage colony-stimulating factor production1
regulation of granulocyte macrophage colony-stimulating factor production1
positive regulation of protein metabolic process1
interleukin-1 beta production1
regulation of interleukin-1 beta production1
positive regulation of interleukin-1 production1
tumor necrosis factor production1
regulation of tumor necrosis factor production1
positive regulation of tumor necrosis factor superfamily cytokine production1
positive regulation of insulin secretion1
insulin secretion involved in cellular response to glucose stimulus1
regulation of insulin secretion involved in cellular response to glucose stimulus1
granulocyte activation1
defense response1
response to bacterium1
apoptotic process1
regulation of apoptotic process1
negative regulation of programmed cell death1
immune response1
defense response to symbiont1
angiogenesis1

Protein interactions and networks

STRING

1988 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CAMPFPR2P25090997
CAMPELANEP08246983
CAMPMRGPRX2Q96LB1976
CAMPTLR9Q9NR96966
CAMPMPOP05164965
CAMPGAPDHP00354961
CAMPPRTN3P15637952
CAMPCTSGP08311948
CAMPCXCR2P25025939
CAMPLTFP02788937
CAMPDEFB4AO15263921
CAMPHMGB1P09429882
CAMPDEFB103AP81534873
CAMPDEFB1P60022864
CAMPP2RX7Q99572855

IntAct

3 interactions, top by confidence:

ABTypeScore
CAMPMAPK8psi-mi:“MI:0915”(physical association)0.370
KLK10IGLL5psi-mi:“MI:0914”(association)0.350

BioGRID (15): CAMP (Reconstituted Complex), XOG1 (Reconstituted Complex), CAMP (Reconstituted Complex), CAMP (Reconstituted Complex), CAMP (Reconstituted Complex), CAMP (Affinity Capture-MS), CAMP (Protein-peptide), CAMP (Protein-peptide), CAMP (Affinity Capture-MS), CAMP (Protein-peptide), CAMP (Protein-peptide), CAMP (Affinity Capture-MS), CAMP (Reconstituted Complex), CAMP (Affinity Capture-Western), MAPK8 (Two-hybrid)

ESM2 similar proteins: A0A1S3PBB7, B6D434, B6S2X0, B6S2X2, O08677, O08692, P01042, P01044, P01045, P08934, P25230, P32195, P33046, P49913, P49928, P49929, P49930, P49931, P49932, P49933, P51437, P54228, P54229, Q1KLX0, Q1KLX1, Q1KLX2, Q1KLX3, Q1KLX4, Q1KLX5, Q1KLX6, Q1KLX7, Q1KLX8, Q1KLX9, Q1KLY0, Q1KLY2, Q1KLY3, Q1KLY4, Q1KLY5, Q1KLY6, Q1KLY7

Diamond homologs: B6D434, B6S2X0, B6S2X2, O08692, P15175, P19660, P19661, P22226, P25230, P26202, P26203, P32194, P32195, P32196, P33046, P49913, P49928, P49929, P49930, P49931, P49932, P49933, P49934, P50415, P51437, P51524, P51525, P54228, P54229, P54230, P56425, P79362, P80054, P82018, Q1KLX0, Q1KLX1, Q1KLX3, Q1KLX4, Q1KLX5, Q1KLX6

SIGNOR signaling

1 interactions.

AEffectBMechanism
CAMPup-regulatesFPR2binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

13 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance7
Likely benign2
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

457 predictions. Top by Δscore:

VariantEffectΔscore
3:48223709:GATG:Gdonor_gain1.0000
3:48223711:TGGTG:Tdonor_loss1.0000
3:48223713:G:Adonor_loss1.0000
3:48223713:G:GGdonor_gain1.0000
3:48223714:T:Adonor_loss1.0000
3:48224452:G:GTdonor_gain1.0000
3:48224456:G:GTdonor_gain1.0000
3:48224598:TCCA:Tacceptor_loss1.0000
3:48224601:A:AGacceptor_gain1.0000
3:48224601:AGCT:Aacceptor_gain1.0000
3:48224601:AGCTG:Aacceptor_gain1.0000
3:48224602:G:GGacceptor_gain1.0000
3:48224602:GC:Gacceptor_gain1.0000
3:48224602:GCT:Gacceptor_gain1.0000
3:48224602:GCTG:Gacceptor_gain1.0000
3:48224602:GCTGG:Gacceptor_gain1.0000
3:48224671:TAAGG:Tdonor_loss1.0000
3:48224672:AAGG:Adonor_loss1.0000
3:48224673:AGGTG:Adonor_loss1.0000
3:48224674:GGTG:Gdonor_loss1.0000
3:48224675:G:Cdonor_loss1.0000
3:48224675:G:GGdonor_gain1.0000
3:48225283:A:AGacceptor_gain1.0000
3:48223708:CGATG:Cdonor_gain0.9900
3:48223709:GATGG:Gdonor_gain0.9900
3:48223710:ATG:Adonor_gain0.9900
3:48223711:TG:Tdonor_gain0.9900
3:48223712:GG:Gdonor_gain0.9900
3:48224347:T:Aacceptor_gain0.9900
3:48224352:A:Cacceptor_loss0.9900

AlphaMissense

1113 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:48224387:T:CF79L0.990
3:48224389:C:AF79L0.990
3:48224389:C:GF79L0.990
3:48224388:T:CF79S0.985
3:48224448:T:GF99C0.983
3:48224388:T:GF79C0.981
3:48224615:T:AC108S0.979
3:48224616:G:CC108S0.979
3:48224400:A:TE83V0.975
3:48224447:T:CF99L0.974
3:48224449:C:AF99L0.974
3:48224449:C:GF99L0.974
3:48224441:T:AC97S0.972
3:48224442:G:CC97S0.972
3:48224408:T:AC86S0.966
3:48224409:G:CC86S0.966
3:48224408:T:CC86R0.965
3:48224398:G:CK82N0.962
3:48224398:G:TK82N0.962
3:48224621:G:TG110W0.962
3:48224401:G:CE83D0.959
3:48224401:G:TE83D0.959
3:48223681:G:CR57P0.956
3:48224459:G:TG103W0.955
3:48224615:T:CC108R0.953
3:48224441:T:CC97R0.952
3:48224460:G:AG103E0.952
3:48224443:T:GC97W0.949
3:48224442:G:AC97Y0.946
3:48224621:G:AG110R0.946

dbSNP variants (sampled 300 via entrez): RS1000630674 (3:48225763 G>A), RS1001795751 (3:48223252 A>C,G), RS1002905688 (3:48225710 CTG>C), RS1003641539 (3:48224236 A>G), RS1004600702 (3:48222736 G>T), RS1005696995 (3:48222350 A>G), RS1006271272 (3:48224310 C>A,T), RS1008083340 (3:48223327 C>T), RS1008446659 (3:48223012 T>C), RS1008588901 (3:48222050 A>T), RS1009390293 (3:48225520 C>A,G,T), RS1010600133 (3:48224935 A>G), RS1011388908 (3:48222557 C>T), RS1011442566 (3:48222929 A>G), RS1012779927 (3:48221681 C>T)

Disease associations

OMIM: gene MIM:600474 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Calcitriolincreases activity, affects reaction, increases response to substance, affects localization, decreases reaction (+3 more)7
Lithocholic Acidincreases expression, increases reaction, affects binding, increases activity3
Benzo(a)pyreneaffects methylation, increases expression2
triphenyl phosphateaffects expression1
propionaldehydedecreases expression1
butyraldehydedecreases expression1
tobacco tardecreases reaction, increases expression1
diallyl disulfidedecreases reaction, increases expression1
allyl sulfidedecreases reaction, increases expression1
pentanaldecreases expression1
calcipotrieneincreases expression, increases reaction1
di-n-butylphosphoric acidaffects expression1
1,2-bis(2-aminophenoxy)ethane N,N,N’,N’-tetraacetic acid acetoxymethyl esteraffects localization, decreases reaction1
KH 1060increases expression1
seocalcitolincreases expression1
paricalcitolincreases reaction, increases expression1
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-oneincreases reaction, decreases reaction, increases expression1
SB 203580increases expression, increases reaction1
pterostilbeneincreases expression, increases reaction1
STO 609affects localization, decreases reaction1
lithocholic acid acetateincreases expression1
dorsomorphinaffects localization, decreases reaction1
AZD 6244increases expression, increases reaction1
tapinarofdecreases reaction, increases expression, increases reaction1
Resveratrolincreases reaction, decreases reaction, increases expression1
Arsenic Trioxidedecreases expression1
Acetaminophendecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Aldehydesdecreases expression1
Allergensdecreases expression1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_E1T0HAP1 CAMP (-) 1Cancer cell lineMale
CVCL_E1T1HAP1 CAMP (-) 2Cancer cell lineMale
CVCL_F1P8HyCyte HEK293 KO-hCAMPTransformed cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.