DEFB114

Summary

DEFB114 (defensin beta 114, HGNC:18095) is a protein-coding gene on chromosome 6p12.3, encoding Beta-defensin 114 (Q30KQ6). Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans.

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. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues.

Source: NCBI Gene 245928 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_001037499

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18095
Approved symbol	DEFB114
Name	defensin beta 114
Location	6p12.3
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-14
Ensembl gene	ENSG00000177684
Ensembl biotype	protein_coding
OMIM	615243
Entrez	245928

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000322066

RefSeq mRNA: 1 — MANE Select: NM_001037499 NM_001037499

CCDS: CCDS34474

Canonical transcript exons

ENST00000322066 — 2 exons

Exon	Start	End
ENSE00001282621	49960249	49960446
ENSE00001454464	49964051	49964164

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 87.32.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0071 / max 11.7214, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73938	0.0071	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.32	gold 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
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	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
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
blood	UBERON:0000178	25.88	gold quality
cortex of kidney	UBERON:0001225	25.82	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
leukocyte	CL:0000738	24.80	gold quality
muscle of leg	UBERON:0001383	24.74	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
monocyte	CL:0000576	24.52	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	0.29

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Human beta-defensin 114 regulates lipopolysaccharide (LPS)-mediated inflammation and protects sperm from motility loss. It also has antimicrobial activity against E. coli, S. aureus, and C. albicans. (PMID:23482568)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Beta-defensin 114 — Q30KQ6 (reviewed: Q30KQ6)

Alternative names: Beta-defensin 14, Defensin, beta 114

All UniProt accessions (1): Q30KQ6

UniProt curated annotations — full annotation on UniProt →

Function. Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS-induced reduction of sperm motility in vitro and may protect from LPS-induced lethality.

Subcellular location. Secreted.

Tissue specificity. Expressed in epididymis, predominantly in the caput (at protein level).

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (1): NP_001032588* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain

Pfam: PF13841

UniProt features (6 total): disulfide bond 3, signal peptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q30KQ6-F1	77.37	0.13

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): 29–57, 36–50, 40–58

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 92 (showing top): GOBP_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_CELL_CHEMOTAXIS, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_INFLAMMATORY_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_TAXIS

GO Biological Process (12): negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665), negative regulation of tumor necrosis factor production (GO:0032720), defense response to bacterium (GO:0042742), negative regulation of MAP kinase activity (GO:0043407), innate immune response (GO:0045087), positive regulation of inflammatory response (GO:0050729), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), cell chemotaxis (GO:0060326), antifungal innate immune response (GO:0061760), defense response (GO:0006952), positive chemotaxis (GO:0050918)

GO Molecular Function (3): lipopolysaccharide binding (GO:0001530), CCR6 chemokine receptor binding (GO:0031731), chemoattractant activity (GO:0042056)

GO Cellular Component (2): obsolete extracellular space (GO:0005615), 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 to bacterium	2
chemotaxis	2
negative regulation of response to biotic stimulus	1
negative regulation of signal transduction	1
lipopolysaccharide-mediated signaling pathway	1
regulation of lipopolysaccharide-mediated signaling pathway	1
negative regulation of response to external stimulus	1
tumor necrosis factor production	1
regulation of tumor necrosis factor production	1
negative regulation of tumor necrosis factor superfamily cytokine production	1
defense response	1
response to bacterium	1
MAP kinase activity	1
regulation of MAP kinase activity	1
negative regulation of MAPK cascade	1
negative regulation of protein serine/threonine kinase activity	1
immune response	1
defense response to symbiont	1
inflammatory response	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
regulation of inflammatory response	1
cell migration	1
cellular response to chemical stimulus	1
innate immune response	1
defense response to fungus	1
response to stress	1
lipid binding	1
carbohydrate derivative binding	1
CCR chemokine receptor binding	1
receptor ligand activity	1
positive chemotaxis	1
cellular anatomical structure	1

Protein interactions and networks

STRING

178 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB114	DEFB127	Q9H1M4	712
DEFB114	DEFB118	Q96PH6	710
DEFB114	DEFB126	Q9BYW3	667
DEFB114	DEFB134	Q4QY38	666
DEFB114	DEFB125	Q8N687	660
DEFB114	DEFB135	Q30KP9	645
DEFB114	DEFB124	Q8NES8	618
DEFB114	DEFB128	Q7Z7B8	592
DEFB114	DEFB103A	P81534	573
DEFB114	CCR6	P51684	520
DEFB114	DEFB110	Q30KQ9	518
DEFB114	DEFB116	Q30KQ4	507
DEFB114	CCRL2	O00421	504
DEFB114	DEFB129	Q9H1M3	481
DEFB114	DEFB115	Q30KQ5	480

IntAct

2 interactions, top by confidence:

A	B	Type	Score
DEFB114	SRC	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): AIM1 (Affinity Capture-MS), SRC (Affinity Capture-MS)

ESM2 similar proteins: A0A096LNP1, A4H206, A4H207, A4H208, A4H209, A4H212, A4H213, P0C8A5, P0C8B0, P0DP73, P0DP74, P59861, P82020, P82172, Q30KJ3, Q30KJ5, Q30KJ6, Q30KJ8, Q30KJ9, Q30KK8, Q30KL4, Q30KL6, Q30KM9, Q30KP5, Q30KP6, Q30KP8, Q30KQ1, Q30KQ6, Q30KQ7, Q30KQ9, Q32ZF3, Q32ZF7, Q32ZG3, Q32ZH4, Q32ZH5, Q32ZH6, Q32ZI1, Q32ZI2, Q4QY38, Q6QLQ7

Diamond homologs: Q30KQ6, Q8R2I3, A4H206, A4H207, A4H208, A4H209, Q30KJ6, Q30KQ1, Q32ZH8, Q32ZH9, Q5IAB6, Q8K4N3, Q8NG35

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

224 predictions. Top by Δscore:

Variant	Effect	Δscore
6:49962014:T:C	donor_gain	1.0000
6:49964045:TCTTA:T	donor_loss	0.9900
6:49964046:CTTA:C	donor_loss	0.9900
6:49964047:TTAC:T	donor_loss	0.9900
6:49964048:TACC:T	donor_loss	0.9900
6:49964050:C:CA	donor_loss	0.9900
6:49960442:TGTGG:T	acceptor_gain	0.9800
6:49960447:C:CC	acceptor_gain	0.9600
6:49964049:A:AC	donor_gain	0.9600
6:49964050:C:CC	donor_gain	0.9600
6:49960451:G:T	acceptor_gain	0.9300
6:49962007:AG:A	donor_gain	0.9100
6:49960444:TGG:T	acceptor_gain	0.8600
6:49960443:GTGG:G	acceptor_gain	0.8500
6:49960444:TGGC:T	acceptor_loss	0.8400
6:49960446:GCT:G	acceptor_loss	0.8400
6:49960447:C:A	acceptor_loss	0.8400
6:49960448:T:G	acceptor_loss	0.8400
6:49960445:GG:G	acceptor_gain	0.8200
6:49961993:A:C	donor_gain	0.8200
6:49960452:G:GC	acceptor_gain	0.8100
6:49961989:A:T	donor_gain	0.8100
6:49962055:TTTTG:T	donor_gain	0.8100
6:49962056:TTTGT:T	donor_gain	0.8100
6:49961908:A:AC	donor_gain	0.7700
6:49961909:C:CC	donor_gain	0.7700
6:49960449:A:C	acceptor_loss	0.7300
6:49960450:CGG:C	acceptor_gain	0.7300
6:49961999:G:GT	donor_gain	0.7300
6:49961991:A:AC	donor_gain	0.7100

AlphaMissense

457 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:49960416:C:G	C29S	0.950
6:49960417:A:T	C29S	0.950
6:49960395:C:G	C36S	0.942
6:49960396:A:T	C36S	0.942
6:49960332:C:G	C57S	0.934
6:49960333:A:T	C57S	0.934
6:49960353:C:G	C50S	0.932
6:49960354:A:T	C50S	0.932
6:49960329:C:G	C58S	0.930
6:49960330:A:T	C58S	0.930
6:49960354:A:G	C50R	0.921
6:49960402:C:A	G34C	0.921
6:49960331:G:C	C57W	0.909
6:49960352:A:C	C50W	0.906
6:49960383:C:G	C40S	0.905
6:49960384:A:T	C40S	0.905
6:49960417:A:G	C29R	0.904
6:49960353:C:T	C50Y	0.903
6:49960333:A:G	C57R	0.901
6:49960332:C:T	C57Y	0.896
6:49960415:G:C	C29W	0.893
6:49960328:G:C	C58W	0.890
6:49960396:A:G	C36R	0.884
6:49960382:A:C	C40W	0.882
6:49960384:A:G	C40R	0.882
6:49960329:C:T	C58Y	0.877
6:49960401:C:T	G34D	0.872
6:49960416:C:T	C29Y	0.864
6:49960330:A:G	C58R	0.863
6:49960394:A:C	C36W	0.863

dbSNP variants (sampled 300 via entrez): RS1000830120 (6:49961706 A>G,T), RS1001159642 (6:49960273 C>A,T), RS1001213698 (6:49960567 T>A), RS1001631049 (6:49960532 T>C), RS1001778034 (6:49960722 T>A), RS1002010551 (6:49964701 T>G), RS1002467493 (6:49965082 T>C), RS1003721204 (6:49963405 T>C), RS1003733754 (6:49963695 T>C), RS1003966717 (6:49962047 T>C), RS1004017495 (6:49962288 A>C,G), RS1004086304 (6:49963364 C>A), RS1004909802 (6:49962601 A>G), RS1004925022 (6:49960140 A>G,T), RS1005242344 (6:49961113 C>T)

Disease associations

OMIM: gene MIM:615243 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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