DEFB116

Summary

DEFB116 (defensin beta 116, HGNC:18097) is a protein-coding gene on chromosome 20q11.21, encoding Beta-defensin 116 (Q30KQ4). 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 245930 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_001037731

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18097
Approved symbol	DEFB116
Name	defensin beta 116
Location	20q11.21
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-16
Ensembl gene	ENSG00000215545
Ensembl biotype	protein_coding
Entrez	245930

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000400549

RefSeq mRNA: 1 — MANE Select: NM_001037731 NM_001037731

CCDS: CCDS42860

Canonical transcript exons

ENST00000400549 — 2 exons

Exon	Start	End
ENSE00001543449	31303212	31303453
ENSE00001543450	31308519	31308585

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 37.20.

Top tissues by expression

91 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
monocyte	CL:0000576	30.26	gold quality
urinary bladder	UBERON:0001255	30.03	silver quality
leukocyte	CL:0000738	30.02	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
uterine cervix	UBERON:0000002	27.94	gold quality
ectocervix	UBERON:0012249	27.74	silver 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
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
blood	UBERON:0000178	25.85	silver quality
placenta	UBERON:0001987	25.81	gold quality
endocervix	UBERON:0000458	24.90	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.81

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	Defb29	ENSMUSG00000044249
rattus_norvegicus	Defb29	ENSRNOG00000023195

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), DEFB115 (ENSG00000215547), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 116 — Q30KQ4 (reviewed: Q30KQ4)

Alternative names: Beta-defensin 16, Defensin, beta 116

All UniProt accessions (1): Q30KQ4

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_001032820* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain

Pfam: PF13841

UniProt features (8 total): disulfide bond 3, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q30KQ4-F1	67.61	0.05

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): 40–67, 47–61, 51–68

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 17 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, chr20q11, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_RESPONSE_TO_BACTERIUM, REACTOME_ANTIMICROBIAL_PEPTIDES, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, REACTOME_DEFENSINS, REACTOME_BETA_DEFENSINS, GSE2770_TGFB_AND_IL4_VS_IL4_TREATED_ACT_CD4_TCELL_2H_DN, GSE2585_CD80_HIGH_VS_LOW_MTEC_UP, GSE19888_ADENOSINE_A3R_INH_VS_ACT_WITH_INHIBITOR_PRETREATMENT_IN_MAST_CELL_DN, GSE16385_UNTREATED_VS_12H_IL4_TREATED_MACROPHAGE_DN, GSE22342_CD11C_HIGH_VS_LOW_DECIDUAL_MACROPHAGES_UP, GSE26030_TH1_VS_TH17_RESTIMULATED_DAY15_POST_POLARIZATION_UP

GO Biological Process (3): defense response to bacterium (GO:0042742), innate immune response (GO:0045087), defense response (GO:0006952)

GO Molecular Function (0):

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
defense response	1
response to bacterium	1
immune response	1
defense response to symbiont	1
response to stress	1
cellular anatomical structure	1

Protein interactions and networks

STRING

160 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB116	DEFB123	Q8N688	672
DEFB116	DEFB125	Q8N687	653
DEFB116	DEFB118	Q96PH6	652
DEFB116	DEFB115	Q30KQ5	632
DEFB116	DEFB127	Q9H1M4	609
DEFB116	DEFB129	Q9H1M3	578
DEFB116	DEFB128	Q7Z7B8	561
DEFB116	DEFB126	Q9BYW3	553
DEFB116	DEFB124	Q8NES8	551
DEFB116	DEFB108B	Q8NET1	518
DEFB116	DEFB114	Q30KQ6	507
DEFB116	DEFB121	Q5J5C9	507
DEFB116	DEFB112	Q30KQ8	426
DEFB116	DEFB107A	Q8IZN7	420
DEFB116	IL22RA2	Q969J5	388

IntAct

3 interactions, top by confidence:

A	B	Type	Score
DLG1	DEFB116	psi-mi:“MI:0407”(direct interaction)	0.440
DEFB116	SRC	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): SYVN1 (Affinity Capture-MS), NCS1 (Affinity Capture-MS), SRC (Affinity Capture-MS), C11orf31 (Affinity Capture-MS), INSRR (Affinity Capture-MS), HS6ST3 (Affinity Capture-MS)

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: A4H225, A4H226, A4H227, A4H228, Q30KK6, Q30KK8, Q30KL1, Q30KQ4, Q30KT5, Q32P86, Q5J5C9, Q5J600, Q5J602, Q8K3I8, Q8N690, A4H235, A4H236, Q30KK5, Q5J5D0, Q5J5Z9, Q8K3U4, Q8N688, Q32ZG3, Q8BGW9, A4H211, A4H212, A4H213, A4H253, A4H254, A4H255, Q30KJ4, Q30KN8, Q30KP9, Q32ZG7, Q5IAB3, Q7Z7B8, Q8N104, A4H263, A4H264, A4H265

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

113 predictions. Top by Δscore:

Variant	Effect	Δscore
20:31303454:CTGGG:C	acceptor_loss	0.9600
20:31303455:T:A	acceptor_loss	0.9600
20:31303457:GGAAA:G	acceptor_loss	0.9400
20:31303458:GAAAG:G	acceptor_loss	0.9400
20:31303459:AAAGA:A	acceptor_loss	0.9400
20:31303456:GGGAA:G	acceptor_loss	0.9300
20:31308514:GTTA:G	donor_loss	0.9200
20:31308515:TTA:T	donor_loss	0.9200
20:31308516:TA:T	donor_loss	0.9200
20:31308517:AC:A	donor_loss	0.9200
20:31308518:C:CA	donor_loss	0.9200
20:31308519:C:A	donor_loss	0.9200
20:31303450:CCAC:C	acceptor_gain	0.9000
20:31303451:CAC:C	acceptor_gain	0.9000
20:31303451:CACC:C	acceptor_gain	0.9000
20:31308513:AGTT:A	donor_loss	0.9000
20:31303464:C:CT	acceptor_loss	0.8900
20:31303465:A:T	acceptor_loss	0.8700
20:31303454:C:CC	acceptor_gain	0.8500
20:31303460:AAGAC:A	acceptor_loss	0.8500
20:31303461:AGACA:A	acceptor_loss	0.8500
20:31303463:A:C	acceptor_loss	0.8100
20:31308266:C:CT	donor_gain	0.8000
20:31308267:T:TT	donor_gain	0.8000
20:31304345:T:TC	acceptor_gain	0.7500
20:31303462:GACA:G	acceptor_loss	0.7300
20:31303449:GCCAC:G	acceptor_gain	0.7000
20:31303450:CCACC:C	acceptor_gain	0.7000
20:31308520:T:A	donor_loss	0.6500
20:31304987:T:TA	donor_gain	0.6000

AlphaMissense

672 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:31303321:C:G	C67S	0.943
20:31303322:A:T	C67S	0.943
20:31303318:C:G	C68S	0.942
20:31303319:A:T	C68S	0.942
20:31303402:C:G	C40S	0.942
20:31303403:A:T	C40S	0.942
20:31303402:C:T	C40Y	0.932
20:31303319:A:G	C68R	0.927
20:31303322:A:G	C67R	0.923
20:31303315:A:G	L69P	0.918
20:31303403:A:G	C40R	0.916
20:31303317:G:C	C68W	0.913
20:31303381:C:G	C47S	0.913
20:31303382:A:T	C47S	0.913
20:31303320:G:C	C67W	0.911
20:31303410:C:A	W37C	0.908
20:31303410:C:G	W37C	0.908
20:31303388:C:A	G45C	0.906
20:31303402:C:A	C40F	0.903
20:31303401:A:C	C40W	0.900
20:31303369:C:G	C51S	0.892
20:31303370:A:T	C51S	0.892
20:31303370:A:G	C51R	0.891
20:31303318:C:T	C68Y	0.888
20:31303340:A:G	C61R	0.886
20:31303369:C:T	C51Y	0.885
20:31303357:T:A	E55V	0.884
20:31303368:G:C	C51W	0.884
20:31303388:C:G	G45R	0.884
20:31303338:G:C	C61W	0.868

dbSNP variants (sampled 300 via entrez): RS1000427464 (20:31303294 G>A,C), RS1000518031 (20:31307139 C>A), RS1000589831 (20:31306805 G>C), RS1001565391 (20:31309144 A>G), RS1002409104 (20:31305768 CT>C), RS1002419088 (20:31305561 G>GC), RS1002742885 (20:31307006 C>T), RS1002805649 (20:31304084 A>G), RS1002880510 (20:31303142 A>T), RS1002934338 (20:31309018 C>A,T), RS1004200078 (20:31310245 C>T), RS1004409203 (20:31305519 C>G,T), RS1004482217 (20:31305186 A>G,T), RS1004657108 (20:31310415 C>T), RS1004774689 (20:31305489 T>A)

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

3 associations (top):

Study	Trait	p-value
GCST004639_6	Prudent dietary pattern	2.000000e-06
GCST007327_46	Smoking status (ever vs never smokers)	1.000000e-08
GCST008810_51	Smoking initiation (ever regular vs never regular)	5.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004318	smoking behavior
EFO:0005670	smoking initiation

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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