CAMP

cathelicidin antimicrobial peptide, the group of Receptor ligands

Basic information

Region (hg38): 3:48223346-48225491

Links

ENSG00000164047 ∙ NCBI:820 ∙ OMIM:600474 ∙ HGNC:1472 ∙ Uniprot:P49913 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CAMP gene.

• not provided (3 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAMP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			1		1	2
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	1	2

Variants in CAMP

This is a list of pathogenic ClinVar variants found in the CAMP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-48223630-T-C		not specified	Uncertain significance (Jul 19, 2022)
3-48224434-A-G			Benign (Apr 03, 2018)
3-48224637-ACCAGGCC-A			Likely benign (Jul 04, 2018)
3-48225345-A-G			Benign (Aug 14, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAMP	protein_coding	protein_coding	ENST00000296435	4	2145

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00439	0.686	125718	0	24	125742	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.162	98	103	0.955	0.00000592	1129
Missense in Polyphen		29	31.623	0.91706		369
Synonymous	-0.0722	41	40.4	1.01	0.00000215	349
Loss of Function	0.654	4	5.68	0.704	2.41e-7	65

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000242	0.000242
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000897	0.0000879
Middle Eastern	0.000272	0.000272
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to bacterial lipopolysaccharides (LPS), has antibacterial activity. {ECO:0000269|PubMed:16637646, ECO:0000269|PubMed:18818205}.
• Pathway: NOD-like receptor signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Salivary secretion - Homo sapiens (human);Sterol Regulatory Element-Binding Proteins (SREBP) signalling;Integrated Lung Cancer Pathway;Vitamin D Receptor Pathway;Neutrophil degranulation;Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.175

Intolerance Scores

• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.49

Haploinsufficiency Scores

• pHI: 0.225
• hipred: N
• hipred_score: 0.276
• ghis: 0.385

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.691

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Camp
• Phenotype: cellular phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype; vision/eye phenotype

Gene ontology

• Biological process: innate immune response in mucosa;antimicrobial humoral response;antibacterial humoral response;defense response to bacterium;neutrophil degranulation;negative regulation of growth of symbiont on or near host surface;innate immune response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;killing by host of symbiont cells;antimicrobial humoral immune response mediated by antimicrobial peptide
• Cellular component: extracellular region;extracellular space;specific granule lumen;specific granule;extracellular exosome;tertiary granule lumen
• Molecular function: lipopolysaccharide binding