DEFB115

Summary

DEFB115 (defensin beta 115, HGNC:18096) is a protein-coding gene on chromosome 20q11.21, encoding Beta-defensin 115 (Q30KQ5). Has antibacterial activity.

Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions.

Source: NCBI Gene 245929 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 21 total
• MANE Select transcript: NM_001037730

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18096
Approved symbol	DEFB115
Name	defensin beta 115
Location	20q11.21
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-15
Ensembl gene	ENSG00000215547
Ensembl biotype	protein_coding
Entrez	245929

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000400552

RefSeq mRNA: 1 — MANE Select: NM_001037730 NM_001037730

CCDS: CCDS42859

Canonical transcript exons

ENST00000400552 — 2 exons

Exon	Start	End
ENSE00001543455	31259460	31259632
ENSE00001543456	31257664	31257757

Expression profiles

Bgee: expression breadth broad, 26 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
monocyte	CL:0000576	29.33	gold quality
leukocyte	CL:0000738	29.17	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.19	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.99	silver quality
primary visual cortex	UBERON:0002436	24.61	gold quality
frontal cortex	UBERON:0001870	24.13	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
pancreas	UBERON:0001264	23.89	gold quality
gastrocnemius	UBERON:0001388	23.79	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The encoded protein is thought to display antimicrobial activity. (PMID:16033865)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb28	ENSMUSG00000074679
rattus_norvegicus	Defb28	ENSRNOG00000036900

Paralogs (19): DEFB127 (ENSG00000088782), DEFB129 (ENSG00000125903), DEFB118 (ENSG00000131068), DEFB104A (ENSG00000176782), DEFB104B (ENSG00000177023), DEFB125 (ENSG00000178591), DEFB124 (ENSG00000180383), DEFB123 (ENSG00000180424), DEFB119 (ENSG00000180483), DEFB108B (ENSG00000184276), DEFB128 (ENSG00000185982), DEFB131A (ENSG00000186146), DEFB132 (ENSG00000186458), DEFB121 (ENSG00000204548), DEFB134 (ENSG00000205882), DEFB135 (ENSG00000205883), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 115 — Q30KQ5 (reviewed: Q30KQ5)

Alternative names: Beta-defensin 15, Defensin, beta 115

All UniProt accessions (1): Q30KQ5

UniProt curated annotations — full annotation on UniProt →

Function. Has antibacterial activity.

Subcellular location. Secreted.

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (1): NP_001032819* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain
IPR050544	Beta-defensin	Family

Pfam: PF13841

UniProt features (5 total): disulfide bond 3, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q30KQ5-F1	74.46	0.30

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 (3): 38–65, 45–59, 49–66

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1461957	Beta defensins
R-HSA-1461973	Defensins

MSigDB gene sets: 13 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, chr20q11, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_CELL_KILLING, GOBP_RESPONSE_TO_BACTERIUM, REACTOME_ANTIMICROBIAL_PEPTIDES, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, GOBP_DISRUPTION_OF_ANATOMICAL_STRUCTURE_IN_ANOTHER_ORGANISM, GOMF_MEMBRANE_DESTABILIZING_ACTIVITY, REACTOME_DEFENSINS, REACTOME_BETA_DEFENSINS

GO Biological Process (4): innate immune response (GO:0045087), defense response to Gram-negative bacterium (GO:0050829), defense response (GO:0006952), defense response to bacterium (GO:0042742)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Defensins	1
Antimicrobial peptides	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
immune response	1
defense response to symbiont	1
defense response to bacterium	1
response to stress	1
defense response	1
response to bacterium	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

224 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB115	DEFB127	Q9H1M4	643
DEFB115	DEFB116	Q30KQ4	632
DEFB115	DEFB121	Q5J5C9	621
DEFB115	DEFB118	Q96PH6	611
DEFB115	DEFB123	Q8N688	585
DEFB115	DEFB110	Q30KQ9	574
DEFB115	ZNF727	A8MUV8	507
DEFB115	BPIFC	Q8NFQ6	492
DEFB115	GLB1L2	Q8IW92	481
DEFB115	DEFB114	Q30KQ6	480
DEFB115	DEFB126	Q9BYW3	479
DEFB115	WFDC12	Q8WWY7	478
DEFB115	DEFB113	Q30KQ7	470
DEFB115	DEFB128	Q7Z7B8	459
DEFB115	PGLYRP3	Q96LB9	445

IntAct

7 interactions, top by confidence:

A	B	Type	Score
UBQLN1	DEFB115	psi-mi:“MI:0915”(physical association)	0.560
DEFB115	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
DEFB115	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
DEFB115	UBQLN2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): DEFB115 (Two-hybrid), DEFB115 (Two-hybrid)

ESM2 similar proteins: A4H220, A4H221, A4H222, A4H223, A4H225, A4H227, A4H228, A4H238, A4H240, A4H253, A4H254, A4H255, A4H257, A4H258, A4H259, A4H262, A4H263, A4H264, A4H265, P0C8A8, P0DY26, P0DY27, Q29RT9, Q30KJ7, Q30KK0, Q30KK1, Q30KK9, Q30KL1, Q30KL7, Q30KP3, Q30KP5, Q30KQ4, Q30KQ5, Q30KQ8, Q30KR1, Q30KT5, Q32P86, Q32ZH2, Q32ZH6, Q3UW43

Diamond homologs: A4H220, A4H221, A4H222, A4H223, P0C8A5, Q30KK6, Q30KK9, Q30KQ5, Q5J5C9, Q95LI0, Q96PH6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

145 predictions. Top by Δscore:

Variant	Effect	Δscore
20:31259454:TGATA:T	acceptor_loss	0.9800
20:31259457:TAG:T	acceptor_loss	0.9800
20:31259459:G:GA	acceptor_loss	0.9800
20:31259454:T:TA	acceptor_gain	0.9700
20:31259458:A:AG	acceptor_gain	0.9700
20:31259458:AGAT:A	acceptor_gain	0.9700
20:31259458:AGATG:A	acceptor_gain	0.9700
20:31259459:G:GG	acceptor_gain	0.9700
20:31259459:GATG:G	acceptor_gain	0.9700
20:31259459:GATGG:G	acceptor_gain	0.9700
20:31259459:GAT:G	acceptor_gain	0.9500
20:31257753:CCCAG:C	donor_loss	0.9300
20:31257754:CCAG:C	donor_loss	0.9300
20:31257755:CAG:C	donor_loss	0.9300
20:31257756:AG:A	donor_loss	0.9300
20:31257757:GG:G	donor_loss	0.9300
20:31257758:GTAA:G	donor_loss	0.9300
20:31257759:T:G	donor_loss	0.9300
20:31257788:G:GT	donor_gain	0.9200
20:31257787:GGGA:G	donor_gain	0.8700
20:31258559:T:A	donor_gain	0.8600
20:31259459:GA:G	acceptor_gain	0.8400
20:31258375:G:GA	donor_gain	0.8200
20:31258374:T:TA	donor_gain	0.7900
20:31258561:T:G	donor_gain	0.7900
20:31259450:ATTTT:A	acceptor_gain	0.7800
20:31257760:A:C	donor_loss	0.7600
20:31258560:A:AG	donor_gain	0.7600
20:31258380:A:G	donor_gain	0.7400
20:31258462:G:A	acceptor_gain	0.7400

AlphaMissense

563 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:31259477:T:A	C38S	0.972
20:31259478:G:C	C38S	0.972
20:31259540:T:A	C59S	0.967
20:31259541:G:C	C59S	0.967
20:31259498:T:A	C45S	0.964
20:31259499:G:C	C45S	0.964
20:31259558:T:A	C65S	0.957
20:31259559:G:C	C65S	0.957
20:31259561:T:A	C66S	0.957
20:31259562:G:C	C66S	0.957
20:31259493:G:A	G43D	0.956
20:31259492:G:T	G43C	0.953
20:31259503:G:C	R46S	0.951
20:31259503:G:T	R46S	0.951
20:31259477:T:C	C38R	0.947
20:31259510:T:A	C49S	0.944
20:31259511:G:C	C49S	0.944
20:31259479:C:G	C38W	0.943
20:31259560:C:G	C65W	0.941
20:31259558:T:C	C65R	0.940
20:31259478:G:A	C38Y	0.935
20:31259540:T:C	C59R	0.935
20:31259498:T:C	C45R	0.930
20:31259559:G:A	C65Y	0.929
20:31259500:C:G	C45W	0.927
20:31259561:T:C	C66R	0.921
20:31259524:G:C	E53D	0.917
20:31259524:G:T	E53D	0.917
20:31259493:G:T	G43V	0.916
20:31259502:G:T	R46M	0.916

dbSNP variants (sampled 300 via entrez): RS1000107068 (20:31255823 C>T), RS1000209091 (20:31259437 C>A,T), RS1001513599 (20:31257860 G>A,T), RS1002055837 (20:31258036 T>C), RS1002303902 (20:31258859 G>C), RS1003710642 (20:31255703 G>A,T), RS1003741755 (20:31255836 C>T), RS1003764456 (20:31258935 T>C), RS1003937565 (20:31259689 C>G,T), RS1003956227 (20:31258011 G>A,T), RS1004078674 (20:31256721 G>A,T), RS1005658636 (20:31258913 A>G), RS1005744998 (20:31257600 G>A), RS1006101605 (20:31258166 C>T), RS1006788102 (20:31256543 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004639_6	Prudent dietary pattern	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
hydroxyhydroquinone	increases expression	1
sodium arsenite	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Acetaminophen	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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