DEFB125

Summary

DEFB125 (defensin beta 125, HGNC:18105) is a protein-coding gene on chromosome 20p13, encoding Beta-defensin 125 (Q8N687). Has antibacterial activity.

Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene 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 20p13.

Source: NCBI Gene 245938 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_153325

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18105
Approved symbol	DEFB125
Name	defensin beta 125
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-25
Ensembl gene	ENSG00000178591
Ensembl biotype	protein_coding
Entrez	245938

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000382410, ENST00000608838

RefSeq mRNA: 1 — MANE Select: NM_153325 NM_153325

CCDS: CCDS12989

Canonical transcript exons

ENST00000382410 — 2 exons

Exon	Start	End
ENSE00001491984	96005	97094
ENSE00001491993	87672	87767

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 85.95.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1122 / max 167.2395, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182982	0.0854	3
182981	0.0268	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cauda epididymis	UBERON:0004360	85.95	gold quality
buccal mucosa cell	CL:0002336	62.48	gold quality
corpus epididymis	UBERON:0004359	55.89	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
ventral tegmental area	UBERON:0002691	41.19	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
jejunum	UBERON:0002115	40.18	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
oviduct epithelium	UBERON:0004804	40.03	gold quality
mammary duct	UBERON:0001765	39.98	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
deltoid	UBERON:0001476	39.83	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
parotid gland	UBERON:0001831	39.81	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

4 targeting DEFB125, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-6729-3P	96.91	66.79	703

Literature-anchored findings (GeneRIF, showing 1)

• The protein encoded by this gene is thought to display antimicrobial activity. (PMID:12620395)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb26	ENSMUSG00000074680
rattus_norvegicus	Defb26	ENSRNOG00000053114

Paralogs (19): DEFB127 (ENSG00000088782), DEFB129 (ENSG00000125903), DEFB118 (ENSG00000131068), DEFB104A (ENSG00000176782), DEFB104B (ENSG00000177023), DEFB124 (ENSG00000180383), 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 125 — Q8N687 (reviewed: Q8N687)

Alternative names: Beta-defensin 25, Defensin, beta 125

All UniProt accessions (1): Q8N687

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_697020* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain
IPR050544	Beta-defensin	Family

Pfam: PF13841

UniProt features (9 total): disulfide bond 3, signal peptide 1, peptide 1, propeptide 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-Q8N687-F1	63.59	0.12

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): 27–55, 35–49, 39–56

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 21 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_CELL_KILLING, GOBP_RESPONSE_TO_BACTERIUM, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, REACTOME_ANTIMICROBIAL_PEPTIDES, MIR4530, chr20p13, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, GSE22045_TREG_VS_TCONV_UP, GOBP_DISRUPTION_OF_ANATOMICAL_STRUCTURE_IN_ANOTHER_ORGANISM, GOMF_MEMBRANE_DESTABILIZING_ACTIVITY, REACTOME_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 (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
immune response	1
defense response to symbiont	1
defense response to bacterium	1
response to stress	1
defense response	1
response to bacterium	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1455 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB125	DEFB128	Q7Z7B8	834
DEFB125	DEFB124	Q8NES8	806
DEFB125	DEFB135	Q30KP9	768
DEFB125	DEFB127	Q9H1M4	751
DEFB125	DEFB129	Q9H1M3	741
DEFB125	DEFB134	Q4QY38	676
DEFB125	DEFB114	Q30KQ6	660
DEFB125	DEFB116	Q30KQ4	653
DEFB125	DEFB123	Q8N688	628
DEFB125	DEFB126	Q9BYW3	560
DEFB125	DEFB130A	P0DP74	538
DEFB125	DEFB112	Q30KQ8	532
DEFB125	DEFB132	Q7Z7B7	519
DEFB125	EFCAB10	A6NFE3	516
DEFB125	STPG2	Q8N412	475

IntAct

2 interactions, top by confidence:

A	B	Type	Score
DEFB125	ZZEF1	psi-mi:“MI:0914”(association)	0.350

BioGRID (19): COL6A2 (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), OSCP1 (Affinity Capture-MS), LAMA3 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), RNF123 (Affinity Capture-MS), MIB2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), GDF11 (Affinity Capture-MS), FBLN1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), UBR4 (Affinity Capture-MS), UBAC1 (Affinity Capture-MS), LRP2 (Affinity Capture-MS)

ESM2 similar proteins: A4H220, A4H221, A4H222, A4H223, A4H238, A4H239, A4H240, A4H241, A4H243, A4H244, A4H245, A4H257, A4H258, A4H259, A4H260, O54947, P59647, P97808, Q17R60, Q30KK0, Q30KK1, Q30KK2, Q30KK3, Q30KK9, Q30KL1, Q30KQ4, Q32ZH2, Q3MIW9, Q5FVR0, Q5XI99, Q62170, Q64294, Q6MG22, Q6U7R4, Q7TST5, Q7Z7G0, Q8JZQ0, Q8N687, Q8R183, Q95152

Diamond homologs: A4H238, A4H239, A4H240, A4H241, Q30KK3, Q8N687, Q30KK4, Q30KK6, Q32ZG7, Q5J5C9, A4H253, A4H254, Q30KN8, Q5J5Z9, Q8NES8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

189 predictions. Top by Δscore:

Variant	Effect	Δscore
20:95999:CTACA:C	acceptor_loss	0.9900
20:96002:CAGG:C	acceptor_loss	0.9900
20:96004:G:GT	acceptor_loss	0.9900
20:96004:GGTA:G	acceptor_gain	0.9900
20:96003:A:AG	acceptor_gain	0.9800
20:96004:G:GG	acceptor_gain	0.9800
20:96004:GGT:G	acceptor_gain	0.9800
20:87763:CAAAG:C	donor_loss	0.9300
20:87766:AGGTA:A	donor_loss	0.9300
20:87768:G:A	donor_loss	0.9300
20:87803:GA:G	donor_gain	0.9100
20:95638:A:G	donor_gain	0.9100
20:96001:A:AG	acceptor_gain	0.9000
20:95636:GAAT:G	donor_gain	0.8900
20:95637:AATA:A	donor_gain	0.8900
20:95682:T:TA	donor_gain	0.8700
20:95683:A:AA	donor_gain	0.8700
20:94854:G:GA	donor_gain	0.8300
20:96003:AG:A	acceptor_gain	0.8200
20:96004:GG:G	acceptor_gain	0.8200
20:96213:T:A	acceptor_gain	0.8200
20:95646:A:AG	donor_gain	0.8100
20:95647:G:GG	donor_gain	0.8100
20:96222:A:AG	acceptor_gain	0.7500
20:96223:G:GG	acceptor_gain	0.7500
20:95040:T:A	donor_gain	0.6800
20:87768:G:GG	donor_gain	0.6700
20:87744:G:A	donor_gain	0.6500
20:95041:A:AG	donor_gain	0.6500
20:96008:G:GA	acceptor_gain	0.6200

AlphaMissense

1018 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:96030:G:C	W28C	0.996
20:96030:G:T	W28C	0.996
20:96061:T:A	C39S	0.995
20:96062:G:C	C39S	0.995
20:96091:T:A	C49S	0.993
20:96092:G:C	C49S	0.993
20:96074:A:T	E43V	0.992
20:96109:T:A	C55S	0.992
20:96110:G:C	C55S	0.992
20:96025:T:A	C27S	0.991
20:96026:G:C	C27S	0.991
20:96061:T:C	C39R	0.991
20:96112:T:A	C56S	0.991
20:96113:G:C	C56S	0.991
20:96049:T:A	C35S	0.990
20:96050:G:C	C35S	0.990
20:96109:T:C	C55R	0.990
20:96110:G:A	C55Y	0.990
20:96044:G:A	G33E	0.989
20:96111:C:G	C55W	0.989
20:96113:G:A	C56Y	0.989
20:96091:T:C	C49R	0.988
20:96092:G:A	C49Y	0.988
20:96093:T:G	C49W	0.987
20:96112:T:C	C56R	0.987
20:96114:C:G	C56W	0.987
20:96025:T:C	C27R	0.985
20:96054:A:C	R36S	0.985
20:96054:A:T	R36S	0.985
20:96063:T:G	C39W	0.984

dbSNP variants (sampled 300 via entrez): RS1000188713 (20:88394 T>C), RS1000353543 (20:96500 A>G), RS1000392019 (20:94985 A>G), RS1000470901 (20:90298 A>G), RS1000506308 (20:90095 T>C), RS1000511578 (20:90394 A>G), RS1000523008 (20:90067 G>A), RS1000743521 (20:95338 G>A,C,T), RS1001406425 (20:95220 AT>A), RS1001461063 (20:88641 A>G), RS1001513328 (20:88861 C>T), RS1001764054 (20:94934 T>C), RS1002195555 (20:91708 A>C,G), RS1002471969 (20:87308 G>C), RS1002636868 (20:94091 T>TC)

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

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

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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