DEFB124

Summary

DEFB124 (defensin beta 124, HGNC:18104) is a protein-coding gene on chromosome 20q11.21, encoding Beta-defensin 124 (Q8NES8). Has antibacterial activity.

Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate.

Source: NCBI Gene 245937 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001037500

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18104
Approved symbol	DEFB124
Name	defensin beta 124
Location	20q11.21
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-24
Ensembl gene	ENSG00000180383
Ensembl biotype	protein_coding
Entrez	245937

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000317676, ENST00000481595

RefSeq mRNA: 1 — MANE Select: NM_001037500 NM_001037500

CCDS: CCDS33457

Canonical transcript exons

ENST00000317676 — 3 exons

Exon	Start	End
ENSE00001276984	31465471	31465663
ENSE00001470126	31472956	31473038
ENSE00003917273	31474627	31475127

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 96.89.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	96.89	gold quality
oviduct epithelium	UBERON:0004804	94.32	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.27	gold quality
right testis	UBERON:0004534	85.64	gold quality
fallopian tube	UBERON:0003889	85.52	gold quality
left testis	UBERON:0004533	84.62	gold quality
mucosa of stomach	UBERON:0001199	83.76	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.80	gold quality
bronchial epithelial cell	CL:0002328	82.48	gold quality
testis	UBERON:0000473	81.94	gold quality
bronchus	UBERON:0002185	81.53	gold quality
left uterine tube	UBERON:0001303	79.29	gold quality
seminal vesicle	UBERON:0000998	79.27	gold quality
lower esophagus muscularis layer	UBERON:0035833	78.88	gold quality
lower esophagus	UBERON:0013473	78.62	gold quality
mucosa of paranasal sinus	UBERON:0005030	78.39	silver quality
secondary oocyte	CL:0000655	77.83	silver quality
endocervix	UBERON:0000458	77.81	gold quality
nasal cavity epithelium	UBERON:0005384	77.59	gold quality
endometrium	UBERON:0001295	77.48	gold quality
gingival epithelium	UBERON:0001949	77.39	silver quality
subcutaneous adipose tissue	UBERON:0002190	76.56	gold quality
decidua	UBERON:0002450	76.50	gold quality
omental fat pad	UBERON:0010414	76.40	gold quality
peritoneum	UBERON:0002358	76.35	gold quality
nasal cavity mucosa	UBERON:0001826	75.89	gold quality
adipose tissue of abdominal region	UBERON:0007808	75.43	gold quality
esophagus squamous epithelium	UBERON:0006920	75.19	silver quality
tibial nerve	UBERON:0001323	74.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.31

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB, RELA

Literature-anchored findings (GeneRIF, showing 1)

• The encoded protein is thought to display antimicrobial activity and may enhance innate immunity in the prostate. (PMID:24955228)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb25	ENSMUSG00000074678
rattus_norvegicus	Defb25	ENSRNOG00000036895

Paralogs (19): DEFB127 (ENSG00000088782), DEFB129 (ENSG00000125903), DEFB118 (ENSG00000131068), DEFB104A (ENSG00000176782), DEFB104B (ENSG00000177023), DEFB125 (ENSG00000178591), DEFB123 (ENSG00000180424), DEFB119 (ENSG00000180483), DEFB108B (ENSG00000184276), DEFB128 (ENSG00000185982), DEFB131A (ENSG00000186146), DEFB132 (ENSG00000186458), DEFB121 (ENSG00000204548), DEFB134 (ENSG00000205882), DEFB135 (ENSG00000205883), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB115 (ENSG00000215547), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 124 — Q8NES8 (reviewed: Q8NES8)

Alternative names: Beta-defensin 24, Defensin, beta 124

All UniProt accessions (1): Q8NES8

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_001032589* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain

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-Q8NES8-F1	78.00	0.18

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): 27–54, 34–48, 38–55

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 74 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM

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

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

Protein interactions and networks

STRING

310 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB124	DEFB125	Q8N687	806
DEFB124	DEFB128	Q7Z7B8	802
DEFB124	DEFB135	Q30KP9	801
DEFB124	DEFB127	Q9H1M4	700
DEFB124	DEFB134	Q4QY38	655
DEFB124	DEFB114	Q30KQ6	618
DEFB124	DEFB123	Q8N688	559
DEFB124	DEFB116	Q30KQ4	551
DEFB124	DEFB129	Q9H1M3	541
DEFB124	DEFB113	Q30KQ7	509
DEFB124	CHST13	Q8NET6	504
DEFB124	DEFB126	Q9BYW3	496
DEFB124	GNG10	P50151	478
DEFB124	SPATA3	Q8NHX4	478
DEFB124	PROZ	P22891	468

IntAct

7 interactions, top by confidence:

A	B	Type	Score
NCK2	DEFB124	psi-mi:“MI:0915”(physical association)	0.560
PGRMC1	DEFB124	psi-mi:“MI:0915”(physical association)	0.560
NCK2	DEFB124	psi-mi:“MI:0915”(physical association)	0.000
PGRMC1	DEFB124	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): DEFB124 (Two-hybrid), DEFB124 (Two-hybrid), DEFB124 (Affinity Capture-MS), DEFB124 (Cross-Linking-MS (XL-MS)), ANXA2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A4H202, A4H203, A4H204, A4H206, A4H209, A4H211, A4H212, A4H213, A4H225, A4H227, A8MXU0, O19039, O89117, P0C8A5, P0C8A6, P0C8A7, Q30KJ3, Q30KK4, Q30KK6, Q30KL6, Q30KN8, Q30KP6, Q30KP8, Q32P86, Q32ZF3, Q32ZG3, Q32ZG7, Q32ZH5, Q32ZH6, Q32ZH9, Q32ZI2, Q4QY38, Q5IAB3, Q5IAB9, Q5J5C9, Q5J5Z9, Q5J600, Q5J602, Q6GXJ1, Q6IV23

Diamond homologs: Q30KK4, Q30KN4, Q30KN8, Q30KP9, Q32P86, Q32ZG7, Q8NES8, A4H241, Q5J5Z9, Q30KJ4, Q30KK6, Q32ZG2, Q5J5C9, Q5J600, A4H225, A4H226, A4H227, A4H228, A4H243, A4H244, A4H245, Q30KK2, Q30KK8, Q30KT5, Q5J602, Q8K3I8, Q8N690, Q9BEE3, Q9BYW3, A4H239, Q30KK3, Q8N687

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

680 predictions. Top by Δscore:

Variant	Effect	Δscore
20:31476467:G:GT	donor_gain	1.0000
20:31476751:G:T	donor_gain	1.0000
20:31475455:G:GT	donor_gain	0.9900
20:31476751:G:GT	donor_gain	0.9900
20:31476491:C:T	donor_gain	0.9800
20:31476721:G:GT	donor_gain	0.9800
20:31476721:G:T	donor_gain	0.9800
20:31465661:TCCC:T	acceptor_loss	0.9600
20:31465664:C:A	acceptor_loss	0.9600
20:31465665:T:G	acceptor_loss	0.9600
20:31472950:TGTTA:T	donor_loss	0.9600
20:31472951:GTTA:G	donor_loss	0.9600
20:31472952:TTA:T	donor_loss	0.9600
20:31472953:TACCT:T	donor_loss	0.9600
20:31472954:ACC:A	donor_loss	0.9600
20:31472955:C:CA	donor_loss	0.9600
20:31475362:CCGAG:C	donor_loss	0.9600
20:31475363:CGAG:C	donor_loss	0.9600
20:31475365:AG:A	donor_loss	0.9600
20:31475366:GG:G	donor_loss	0.9600
20:31475367:GTAA:G	donor_loss	0.9600
20:31475368:T:A	donor_loss	0.9600
20:31475456:A:T	donor_gain	0.9600
20:31465662:CC:C	acceptor_gain	0.9500
20:31465663:CC:C	acceptor_gain	0.9500
20:31471600:C:A	donor_gain	0.9500
20:31472378:C:CT	acceptor_gain	0.9500
20:31475433:G:GT	donor_gain	0.9500
20:31465664:C:CC	acceptor_gain	0.9400
20:31472368:G:T	acceptor_gain	0.9400

AlphaMissense

448 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:31465638:C:A	W28C	0.920
20:31465638:C:G	W28C	0.920
20:31465650:G:C	F24L	0.887
20:31465650:G:T	F24L	0.887
20:31465652:A:G	F24L	0.887
20:31465561:C:G	C54S	0.843
20:31465562:A:T	C54S	0.843
20:31465580:A:G	C48R	0.835
20:31465642:C:G	C27S	0.820
20:31465643:A:T	C27S	0.820
20:31465609:C:G	C38S	0.817
20:31465610:A:T	C38S	0.817
20:31465579:C:G	C48S	0.815
20:31465580:A:T	C48S	0.815
20:31465628:C:A	G32W	0.814
20:31465560:G:C	C54W	0.803
20:31465579:C:T	C48Y	0.803
20:31465643:A:G	C27R	0.803
20:31465558:C:G	C55S	0.802
20:31465559:A:T	C55S	0.802
20:31465561:C:T	C54Y	0.802
20:31465609:C:T	C38Y	0.802
20:31465562:A:G	C54R	0.799
20:31465608:G:C	C38W	0.791
20:31465621:C:T	C34Y	0.789
20:31465618:T:G	Q35P	0.787
20:31465628:C:G	G32R	0.787
20:31465628:C:T	G32R	0.787
20:31465647:T:A	K25N	0.779
20:31465647:T:G	K25N	0.779

dbSNP variants (sampled 300 via entrez): RS1000200096 (20:31469042 A>C), RS1000330657 (20:31469315 C>A), RS1000433540 (20:31474165 T>C), RS1000668277 (20:31473247 G>A,C,T), RS1001186369 (20:31475486 G>T), RS1002725021 (20:31469512 G>C), RS1002892424 (20:31467713 G>A), RS1003634920 (20:31468936 G>A), RS1004335720 (20:31468271 T>C), RS1004434328 (20:31468754 C>A,T), RS1004490294 (20:31476431 C>G,T), RS1004765457 (20:31472472 G>A), RS1005291816 (20:31465751 C>A,T), RS1006437464 (20:31473930 C>T), RS1006459 (20:31476528 A>C,G)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
Cadmium	decreases expression, increases abundance	1
Lipopolysaccharides	affects cotreatment, affects response to substance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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