Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	820
Gene name	Cathelicidin antimicrobial peptide
Gene symbol	CAMP
Synonyms (NCBI Gene)	CAP-18CAP18CRAMPFALL-39FALL39HSD26LL37
Chromosome	3
Chromosome location	3p21.31
Summary	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 proteo

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023085	hsa-miR-124-3p	Microarray	18668037

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Transcription factor	Regulation	Reference
NR0B1	Repression	12213901
VDR	Unknown	15985530
WT1	Repression	12213901

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001530	Function	Lipopolysaccharide binding	IBA
GO:0001878	Process	Response to yeast	IDA	14978112, 20209079
GO:0002227	Process	Innate immune response in mucosa	IDA	12860195
GO:0002376	Process	Immune system process	IEA
GO:0002539	Process	Prostaglandin production involved in inflammatory response	IEA
GO:0002544	Process	Chronic inflammatory response	IMP	9182550
GO:0002760	Process	Positive regulation of antimicrobial humoral response	IEA
GO:0005515	Function	Protein binding	IPI	31818937
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12759353, 12860195, 14978112, 18714013, 20421939, 21115716
GO:0005615	Component	Extracellular space	IEA
GO:0006952	Process	Defense response	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009749	Process	Response to glucose	IEA
GO:0019370	Process	Leukotriene biosynthetic process	IEA
GO:0019731	Process	Antibacterial humoral response	IDA	7529412, 12759353, 12860195, 14978112, 20209079
GO:0019732	Process	Antifungal humoral response	IDA	14978112, 20209079
GO:0019835	Process	Cytolysis	EXP	9452503
GO:0031982	Component	Vesicle	IEA
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032757	Process	Positive regulation of interleukin-8 production	IMP	14978112
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0035821	Process	Modulation of process of another organism	IDA	23537644
GO:0042119	Process	Neutrophil activation	IDA	22879591
GO:0042581	Component	Specific granule	IDA	12759353
GO:0042581	Component	Specific granule	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042742	Process	Defense response to bacterium	IMP	21115716
GO:0042742	Process	Defense response to bacterium	TAS	8681941
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	7529412, 9182550, 12759353, 14978112, 20209079
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	17012259
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IBA
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	7529412, 12759353, 14978112, 20209079, 23537644
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	7529412, 9182550, 12759353, 12860195, 14978112, 20209079, 23537644
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IMP	17012259
GO:0051838	Process	Cytolysis by host of symbiont cells	IDA	20421939
GO:0051873	Process	Killing by host of symbiont cells	IDA	16177355
GO:0051873	Process	Killing by host of symbiont cells	IDA	16020269
GO:0051873	Process	Killing by host of symbiont cells	IEA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IBA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	7529412, 9182550, 12759353, 12860195, 14978112, 20209079, 20421939, 23537644
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IEA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IMP	17012259
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071224	Process	Cellular response to peptidoglycan	IEA
GO:0071347	Process	Cellular response to interleukin-1	IEA
GO:0071354	Process	Cellular response to interleukin-6	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071360	Process	Cellular response to exogenous dsRNA	IEA
GO:0071639	Process	Positive regulation of monocyte chemotactic protein-1 production	IEA
GO:0071642	Process	Positive regulation of macrophage inflammatory protein 1 alpha production	IEA
GO:0097187	Process	Dentinogenesis	IEA
GO:1903545	Process	Cellular response to butyrate	IEA
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1990000	Process	Amyloid fibril formation	EXP	32753597
GO:1990000	Process	Amyloid fibril formation	IDA	32753597

MIM	HGNC	e!Ensembl
600474	1472	ENSG00000164047

P49913

Protein name

Cathelicidin antimicrobial peptide (18 kDa cationic antimicrobial protein) (CAP-18) (hCAP-18) [Cleaved into: Antibacterial peptide FALL-39 (FALL-39 peptide antibiotic); Antibacterial peptide LL-37; Antibacterial peptide KR-20; Antibacterial peptide LL-23;

Protein function

Antimicrobial protein that is an integral component of the innate immune system (PubMed:14978112, PubMed:16637646, PubMed:18818205, PubMed:22879591, PubMed:9736536). Binds to bacterial lipopolysaccharides (LPS) (PubMed:16637646, PubMed:18818205)

PDB

2FBS , 2FBU , 2FCG , 2K6O , 2LMF , 2NA3 , 4EYC , 5NMN , 5NNK , 5NNM , 5NNT , 5XNG , 5XRX , 6BIV , 6BIX , 6S6M , 7NPQ , 7PDC , 7SAY , 8DEW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00666	Cathelicidins	31 → 131		Domain
PF12153	CAP18_C	136 → 163	LPS binding domain of CAP18 (C terminal)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in neutrophilic granulocytes (at protein level) (PubMed:7529412, PubMed:7615076, PubMed:7890387, PubMed:8681941, PubMed:8946956, PubMed:9736536). Expressed in bone marrow (PubMed:7890387). {ECO:0000269|PubMed:7529412, ECO:000

Sequence

MKTQRDGHSLGRWSLVLLLLGLVMPLAIIAQVLSYKEAVLRAIDGINQRSSDANLYRLLD
LDPRPTMDGDPDTPKPVSFTVKETVCPRTTQQSPEDCDFKKDGLVKRCMGTVTLNQARGS
FDISCDKDNKRFALLGDFFRKSKEKIGKEFKRIVQRIKDFLRNLVPRTES

Sequence length

170

Interactions

View interactions

	KEGG		Reactome
	Neutrophil extracellular trap formation NOD-like receptor signaling pathway Salivary secretion Staphylococcus aureus infection Tuberculosis		Neutrophil degranulation Antimicrobial peptides

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

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Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ROSACEA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CAMP (cathelicidin antimicrobial peptide)