DEFB128

Summary

DEFB128 (defensin beta 128, HGNC:18106) is a protein-coding gene on chromosome 20p13, encoding Beta-defensin 128 (Q7Z7B8). Has antibacterial activity.

Defensins are cysteine-rich cationic polypeptides that are important in the 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 245939 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_001037732

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18106
Approved symbol	DEFB128
Name	defensin beta 128
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-28
Ensembl gene	ENSG00000185982
Ensembl biotype	protein_coding
Entrez	245939

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334391

RefSeq mRNA: 1 — MANE Select: NM_001037732 NM_001037732

CCDS: CCDS33430

Canonical transcript exons

ENST00000334391 — 2 exons

Exon	Start	End
ENSE00001336348	187853	188118
ENSE00001336349	189575	189711

Expression profiles

Bgee: expression breadth broad, 12 present calls, max score 50.67.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0536 / max 97.1203, expressed in 1 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185954	0.0462	1
185953	0.0073	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	50.67	silver 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
leukocyte	CL:0000738	29.79	silver quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.86	silver quality
urinary bladder	UBERON:0001255	28.29	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
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	24.96	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.26	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• The protein encoded by this gene is thought to display antimicrobial activity. (PMID:12620395)
• This aim of this study was to identify novel biomarkers using comparative global proteome analysis to improve the risk assessment for recurrent coronary events. Beta -defensin-128 and histatin-3 may be potential biomarkers whch may be used to improve risk the stratification for recurrent coronary events. (PMID:28627688)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb20	ENSMUSG00000049560
rattus_norvegicus	Defb20	ENSRNOG00000023384

Paralogs (19): DEFB127 (ENSG00000088782), DEFB129 (ENSG00000125903), DEFB118 (ENSG00000131068), DEFB104A (ENSG00000176782), DEFB104B (ENSG00000177023), DEFB125 (ENSG00000178591), DEFB124 (ENSG00000180383), DEFB123 (ENSG00000180424), DEFB119 (ENSG00000180483), DEFB108B (ENSG00000184276), DEFB131A (ENSG00000186146), DEFB132 (ENSG00000186458), DEFB121 (ENSG00000204548), DEFB134 (ENSG00000205882), DEFB135 (ENSG00000205883), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB115 (ENSG00000215547), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 128 — Q7Z7B8 (reviewed: Q7Z7B8)

Alternative names: Beta-defensin 28, Defensin, beta 128

All UniProt accessions (1): Q7Z7B8

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_001032821* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain
IPR050544	Beta-defensin	Family

Pfam: PF13841

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7B8-F1	69.47	0.02

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): 24–52, 32–46, 36–53

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 15 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, GOBP_DEFENSE_RESPONSE_TO_GRAM_POSITIVE_BACTERIUM, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_CELL_KILLING, GOBP_RESPONSE_TO_BACTERIUM, REACTOME_ANTIMICROBIAL_PEPTIDES, METTL14_TARGET_GENES, chr20p13, HBZ_TARGET_GENES, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, GOBP_DISRUPTION_OF_ANATOMICAL_STRUCTURE_IN_ANOTHER_ORGANISM, REACTOME_DEFENSINS, REACTOME_BETA_DEFENSINS

GO Biological Process (6): killing of cells of another organism (GO:0031640), innate immune response (GO:0045087), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), 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
defense response to bacterium	2
cell killing	1
disruption of cell in another organism	1
immune response	1
defense response to symbiont	1
response to stress	1
defense response	1
response to bacterium	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

204 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB128	DEFB125	Q8N687	834
DEFB128	DEFB124	Q8NES8	802
DEFB128	DEFB135	Q30KP9	769
DEFB128	DEFB134	Q4QY38	699
DEFB128	DEFB129	Q9H1M3	656
DEFB128	DEFB126	Q9BYW3	640
DEFB128	DEFB132	Q7Z7B7	621
DEFB128	DEFB114	Q30KQ6	592
DEFB128	DEFB116	Q30KQ4	561
DEFB128	DEFB123	Q8N688	511
DEFB128	DEFB131A	P59861	507
DEFB128	LCN9	Q8WX39	506
DEFB128	DEFB110	Q30KQ9	477
DEFB128	CST11	Q9H112	473
DEFB128	BPIFC	Q8NFQ6	471

IntAct

4 interactions, top by confidence:

A	B	Type	Score
FAM209A	DEFB128	psi-mi:“MI:0915”(physical association)	0.560
DEFB128	FAM209A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): DEFB128 (Two-hybrid)

ESM2 similar proteins: A2A5H7, A4H202, A4H203, A4H204, A4H225, A4H226, A4H227, A4H228, A4H253, A4H254, A4H255, P50704, P50705, P50707, P50708, P50713, P50714, Q30KJ3, Q30KJ7, Q30KK8, Q30KN4, Q30KP9, Q30KT5, Q32P86, Q32ZF7, Q32ZG2, Q32ZG3, Q32ZH2, Q32ZH6, Q3UW41, Q5DQQ6, Q5G865, Q5G866, Q5IAB9, Q5J602, Q6IE40, Q6IE41, Q6IV18, Q7Z7B8, Q8IUB3

Diamond homologs: A4H241, A4H253, A4H254, A4H255, Q30KP3, Q32ZH2, Q5J5Z9, Q7Z7B8, Q30KK1, Q9H1M4, A4H211, A4H212, A4H213, A4H235, A4H236, Q30KJ4, Q30KK5, Q30KL1, Q30KN8, Q30KP9, Q30KQ4, Q32ZG3, Q32ZG7, Q5IAB3, Q5J5D0, Q8K3U4, Q8N104, Q8N688

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

136 predictions. Top by Δscore:

Variant	Effect	Δscore
20:189000:T:TA	donor_gain	0.9500
20:189636:C:A	donor_gain	0.9300
20:189635:T:TA	donor_gain	0.9100
20:188125:A:C	acceptor_gain	0.8800
20:189625:T:C	donor_gain	0.8800
20:189629:CAGA:C	donor_gain	0.8400
20:188119:C:CC	acceptor_gain	0.8000
20:189573:A:C	donor_loss	0.7400
20:189574:C:G	donor_loss	0.7400
20:188114:CCCGT:C	acceptor_gain	0.7000
20:188115:CCGTC:C	acceptor_gain	0.7000
20:188121:G:C	acceptor_gain	0.7000
20:189580:A:AC	donor_gain	0.7000
20:189026:A:AC	donor_gain	0.6800
20:189027:C:CC	donor_gain	0.6800
20:189085:ACATC:A	acceptor_gain	0.6800
20:188115:CCGT:C	acceptor_gain	0.6700
20:188116:CGT:C	acceptor_gain	0.6700
20:188116:CGTC:C	acceptor_gain	0.6700
20:188125:A:AC	acceptor_gain	0.6600
20:188991:ATG:A	donor_gain	0.6100
20:189573:ACCT:A	donor_gain	0.5500
20:188118:TCTGT:T	acceptor_loss	0.5400
20:188119:CTGT:C	acceptor_loss	0.5400
20:188120:T:G	acceptor_loss	0.5400
20:188124:C:CT	acceptor_gain	0.5400
20:189019:AACT:A	donor_gain	0.5300
20:189022:T:TA	donor_gain	0.5300
20:189086:C:A	acceptor_gain	0.5300
20:189572:TACC:T	donor_gain	0.5300

AlphaMissense

605 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:188061:C:G	C36S	0.975
20:188062:A:T	C36S	0.975
20:188073:C:G	C32S	0.964
20:188074:A:T	C32S	0.964
20:188010:C:G	C53S	0.963
20:188011:A:T	C53S	0.963
20:188031:C:G	C46S	0.962
20:188032:A:T	C46S	0.962
20:188032:A:G	C46R	0.957
20:188062:A:G	C36R	0.956
20:188097:C:G	C24S	0.955
20:188098:A:T	C24S	0.955
20:188013:C:G	C52S	0.953
20:188014:A:T	C52S	0.953
20:188098:A:G	C24R	0.946
20:188049:T:A	E40V	0.933
20:188010:C:T	C53Y	0.930
20:188009:A:C	C53W	0.926
20:188074:A:G	C32R	0.926
20:188069:C:A	R33S	0.925
20:188069:C:G	R33S	0.925
20:188073:C:T	C32Y	0.925
20:188096:G:C	C24W	0.923
20:188061:C:T	C36Y	0.921
20:188011:A:G	C53R	0.920
20:188072:G:C	C32W	0.919
20:188030:A:C	C46W	0.917
20:188049:T:G	E40A	0.916
20:188061:C:A	C36F	0.914
20:188060:G:C	C36W	0.912

dbSNP variants (sampled 300 via entrez): RS1000418863 (20:188889 A>G), RS1000669041 (20:191422 C>T), RS1000753350 (20:190096 T>C), RS1000816591 (20:189129 G>A), RS1001585664 (20:190082 T>A), RS1002422946 (20:191021 C>G,T), RS1002594533 (20:187623 C>A), RS1002793353 (20:188637 A>C,G), RS1003054860 (20:187401 A>G), RS1003595555 (20:187572 A>G), RS1004022920 (20:191540 G>A), RS1004413080 (20:190997 T>C), RS1004867908 (20:190805 C>T), RS1006261899 (20:188592 C>T), RS1006595469 (20:189695 G>A,C)

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
GCST001762_918	Obesity-related traits	7.000000e-07
GCST007010_4	Logical memory (delayed recall)	6.000000e-07
GCST007011_4	Logical memory (immediate recall)	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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