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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	117285
Gene name	Defensin beta 118
Gene symbol	DEFB118
Synonyms (NCBI Gene)	C20orf63DEFB-18ESC42ESP13.6
Chromosome	20
Chromosome location	20q11.21
Summary	This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded prote

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016750	hsa-miR-335-5p	Microarray	18185580
MIRT022118	hsa-miR-124-3p	Microarray	18668037
MIRT641617	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT641616	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT641615	hsa-miR-4257	HITS-CLIP	23824327
MIRT641614	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT641613	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT641612	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT641612	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT641612	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT641617	hsa-miR-2115-3p	HITS-CLIP	27418678
MIRT641617	hsa-miR-2115-3p	HITS-CLIP	27418678
MIRT641614	hsa-miR-361-5p	HITS-CLIP	27418678
MIRT641614	hsa-miR-361-5p	HITS-CLIP	27418678
MIRT641615	hsa-miR-4257	HITS-CLIP	27418678
MIRT641616	hsa-miR-6847-5p	HITS-CLIP	27418678
MIRT641613	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT641613	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT641612	hsa-miR-129-5p	HITS-CLIP	28735896
MIRT641617	hsa-miR-2115-3p	HITS-CLIP	28735896
MIRT641614	hsa-miR-361-5p	HITS-CLIP	28735896
MIRT641615	hsa-miR-4257	HITS-CLIP	28735896
MIRT641616	hsa-miR-6847-5p	HITS-CLIP	28735896
MIRT641613	hsa-miR-6885-3p	HITS-CLIP	28735896
MIRT641617	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT641616	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT641615	hsa-miR-4257	HITS-CLIP	23824327
MIRT641614	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT641613	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT641612	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT931913	hsa-miR-1208	CLIP-seq
MIRT931914	hsa-miR-139-5p	CLIP-seq
MIRT931915	hsa-miR-3685	CLIP-seq
MIRT931916	hsa-miR-3689a-3p	CLIP-seq
MIRT931917	hsa-miR-3689c	CLIP-seq
MIRT931918	hsa-miR-384	CLIP-seq
MIRT931919	hsa-miR-4318	CLIP-seq
MIRT931920	hsa-miR-4447	CLIP-seq
MIRT931921	hsa-miR-4472	CLIP-seq
MIRT931922	hsa-miR-4651	CLIP-seq
MIRT931923	hsa-miR-4728-5p	CLIP-seq
MIRT931924	hsa-miR-4797-5p	CLIP-seq
MIRT931925	hsa-miR-541	CLIP-seq
MIRT931926	hsa-miR-577	CLIP-seq
MIRT931927	hsa-miR-608	CLIP-seq
MIRT931928	hsa-miR-654-5p	CLIP-seq
MIRT2211303	hsa-miR-3613-3p	CLIP-seq
MIRT2211304	hsa-miR-3922-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001530	Function	Lipopolysaccharide binding	IDA	33181266
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0006952	Process	Defense response	IEA
GO:0007160	Process	Cell-matrix adhesion	NAS	11564719
GO:0007162	Process	Negative regulation of cell adhesion	IDA	33224970
GO:0007283	Process	Spermatogenesis	NAS	11564719
GO:0031640	Process	Killing of cells of another organism	IDA	15033915, 33224970
GO:0031665	Process	Negative regulation of lipopolysaccharide-mediated signaling pathway	IDA	33181266
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042742	Process	Defense response to bacterium	TAS	10588992
GO:0045087	Process	Innate immune response	IDA	33224970
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	10588992
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	15033915, 33224970
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	33224970
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	15033915
GO:0140912	Function	Membrane destabilizing activity	IDA	15033915

MIM	HGNC	e!Ensembl
607650	16196	ENSG00000131068

Q96PH6

Protein name

Defensin beta 118 (Beta-defensin 18) (DEFB-18) (Epididymal secretory protein 13.6) (ESP13.6)

Protein function

Host defense peptide that exhibits antimicrobial activity against both Gram-negative bacteria, such as E.coli and S.typhimurium, and Gram-positive bacteria, such as S.aureus and B.subtilis (PubMed:15033915, PubMed:33224970). Inhibits cell adhesi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13841	Defensin_beta_2	26 → 55	Beta defensin	Domain

Tissue specificity

TISSUE SPECIFICITY: High-level and epididymis-specific expression (PubMed:12600824). Most abundant in the epithelium of the caput and present in the epididymis lumen and bound to sperm (PubMed:12600824). Also expressed in pancreas (PubMed:12600824). {ECO:

Sequence

MKLLLLALPMLVLLPQVIPAYSGEKKCWNRSGHCRKQCKDGEAVKDTCKNLRACCIPSNE
DHRRVPATSPTPLSDSTPGIIDDILTVRFTTDYFEVSSKKDMVEESEAGRGTETSLPNVH
HSS

Sequence length

123

Interactions

View interactions

	Reactome
			Beta defensins Defensins

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)

Show/Hide Unknown Diseases (1)

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.
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DEFB118 (defensin beta 118)