DEFB132

Summary

DEFB132 (defensin beta 132, HGNC:33806) is a protein-coding gene on chromosome 20p13, encoding Beta-defensin 132 (Q7Z7B7). Has antibacterial activity.

Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13.

Source: NCBI Gene 400830 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_207469

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33806
Approved symbol	DEFB132
Name	defensin beta 132
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	RP5-1103G7.6, DEFB32
Ensembl gene	ENSG00000186458
Ensembl biotype	protein_coding
Entrez	400830

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000382376

RefSeq mRNA: 1 — MANE Select: NM_207469 NM_207469

CCDS: CCDS12993

Canonical transcript exons

ENST00000382376 — 2 exons

Exon	Start	End
ENSE00001491911	259077	261096
ENSE00001491913	257724	257836

Expression profiles

Bgee: expression breadth broad, 49 present calls, max score 99.77.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5748 / max 437.6693, expressed in 18 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182998	0.5748	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	99.77	gold quality
cauda epididymis	UBERON:0004360	98.94	gold quality
seminal vesicle	UBERON:0000998	91.05	gold quality
sperm	CL:0000019	82.01	gold quality
caput epididymis	UBERON:0004358	65.59	gold quality
pancreatic ductal cell	CL:0002079	64.95	silver quality
thoracic mammary gland	UBERON:0005200	62.94	gold quality
mammary gland	UBERON:0001911	62.77	gold quality
adipose tissue	UBERON:0001013	62.31	gold quality
skin of hip	UBERON:0001554	59.60	gold quality
upper leg skin	UBERON:0004262	56.43	silver quality
adipose tissue of abdominal region	UBERON:0007808	55.56	gold quality
epithelial cell of pancreas	CL:0000083	55.25	gold quality
endothelial cell	CL:0000115	54.57	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
omental fat pad	UBERON:0010414	53.92	gold quality
peritoneum	UBERON:0002358	53.89	gold quality
lower lobe of lung	UBERON:0008949	53.87	silver quality
upper arm skin	UBERON:0004263	53.52	gold quality
deltoid	UBERON:0001476	52.28	gold quality
subcutaneous adipose tissue	UBERON:0002190	52.05	gold quality
tibialis anterior	UBERON:0001385	51.27	silver quality
myocardium	UBERON:0002349	50.25	gold quality
epithelium of mammary gland	UBERON:0003244	49.69	silver quality
mammary duct	UBERON:0001765	49.62	silver quality
prostate gland	UBERON:0002367	49.53	gold quality
ileal mucosa	UBERON:0000331	49.25	silver quality
oocyte	CL:0000023	48.75	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-38	yes	1071.02
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting DEFB132, 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-5692A	100.00	74.40	6850
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-3912-5P	99.95	66.11	925
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-8061	99.63	69.44	1411

Literature-anchored findings (GeneRIF, showing 1)

• HEL-75 is a new beta-defensin expressed in the epididymis and on sperm. The encoded protein displays antimicrobial activity against E. coli. (PMID:18343807)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb22	ENSMUSG00000027468
mus_musculus	Defb15	ENSMUSG00000048500
mus_musculus	Defb34	ENSMUSG00000052554
rattus_norvegicus	Defb22	ENSRNOG00000007525
rattus_norvegicus	Defb15	ENSRNOG00000072020
rattus_norvegicus		ENSRNOG00000074722

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), DEFB121 (ENSG00000204548), DEFB134 (ENSG00000205882), DEFB135 (ENSG00000205883), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB115 (ENSG00000215547), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 132 — Q7Z7B7 (reviewed: Q7Z7B7)

Alternative names: Beta-defensin 32, Defensin HEL-75, Defensin, beta 132

All UniProt accessions (1): Q7Z7B7

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_997352* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain
IPR050544	Beta-defensin	Family

Pfam: PF13841

UniProt features (7 total): disulfide bond 3, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7B7-F1	70.09	0.00

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: 37 (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, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_RESPONSE_TO_BACTERIUM, GOCC_SPERM_HEAD, REACTOME_ANTIMICROBIAL_PEPTIDES, DACH1_TARGET_GENES, MIR335_3P, MIR493_5P, MIR3125, MIR3916, MIR6859_5P

GO Biological Process (5): killing of cells of another organism (GO:0031640), 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 (1): protein binding (GO:0005515)

GO Cellular Component (3): obsolete extracellular space (GO:0005615), sperm head (GO:0061827), 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
cellular anatomical structure	2
cell killing	1
disruption of cell in another organism	1
immune response	1
defense response to symbiont	1
defense response to bacterium	1
response to stress	1
defense response	1
response to bacterium	1
binding	1

Protein interactions and networks

STRING

246 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB132	DEFB127	Q9H1M4	695
DEFB132	DEFB128	Q7Z7B8	621
DEFB132	DEFB118	Q96PH6	607
DEFB132	DEFB134	Q4QY38	531
DEFB132	DEFB125	Q8N687	519
DEFB132	DEFB129	Q9H1M3	507
DEFB132	DEFB126	Q9BYW3	506
DEFB132	DEFB110	Q30KQ9	504
DEFB132	DEFB1	P60022	473
DEFB132	DEFB131A	P59861	436
DEFB132	DEFB124	Q8NES8	433
DEFB132	CLPSL1	A2RUU4	419
DEFB132	PATE3	B3GLJ2	417
DEFB132	TYW1B	Q6NUM6	402
DEFB132	WFDC8	Q8IUA0	398

IntAct

4 interactions, top by confidence:

A	B	Type	Score
DEFB132	FNDC9	psi-mi:“MI:0915”(physical association)	0.560
DEFB132	FNDC9	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): DEFB132 (Two-hybrid), DEFB132 (Affinity Capture-MS), DEFB132 (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: A4H262, A4H263, A4H264, A4H265, Q30KJ7, Q7Z7B7, Q8K3U4, A4H235, A4H236, Q30KK5, Q30KL1, Q30KQ4, Q5J5D0, Q5J5Z9, Q8N688

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

105 predictions. Top by Δscore:

Variant	Effect	Δscore
20:259075:A:AG	acceptor_gain	0.9900
20:259076:G:GA	acceptor_gain	0.9900
20:259076:GCCA:G	acceptor_gain	0.9900
20:257833:CCAG:C	donor_loss	0.9800
20:257835:AG:A	donor_loss	0.9800
20:257836:G:GA	donor_loss	0.9800
20:257837:G:A	donor_loss	0.9800
20:257838:T:A	donor_loss	0.9800
20:259073:ACAG:A	acceptor_loss	0.9800
20:259076:GCC:G	acceptor_gain	0.9700
20:259072:TACAG:T	acceptor_gain	0.9600
20:259073:ACAGC:A	acceptor_gain	0.9600
20:259074:CAGCC:C	acceptor_gain	0.9600
20:259075:AGCCA:A	acceptor_gain	0.9600
20:259076:GCCAG:G	acceptor_gain	0.9600
20:259073:A:AG	acceptor_gain	0.9500
20:259075:AGCC:A	acceptor_gain	0.9500
20:259076:GC:G	acceptor_gain	0.9500
20:259072:T:G	acceptor_gain	0.9400
20:259072:TACA:T	acceptor_gain	0.9400
20:259074:C:G	acceptor_gain	0.9400
20:259074:CAG:C	acceptor_gain	0.9300
20:259071:A:AG	acceptor_gain	0.9100
20:259076:G:C	acceptor_gain	0.8800
20:257858:A:T	donor_gain	0.8500
20:259495:CG:C	acceptor_gain	0.8400
20:257839:A:C	donor_loss	0.8000
20:259495:C:CA	acceptor_gain	0.7500
20:257830:A:AG	donor_gain	0.7400
20:257831:T:G	donor_gain	0.7200

AlphaMissense

613 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:259146:A:T	E43V	0.845
20:259157:T:C	F47L	0.833
20:259159:C:A	F47L	0.833
20:259159:C:G	F47L	0.833
20:259146:A:C	E43A	0.806
20:259163:T:A	C49S	0.800
20:259164:G:C	C49S	0.800
20:259184:T:A	C56S	0.791
20:259185:G:C	C56S	0.791
20:259097:T:A	C27S	0.779
20:259098:G:C	C27S	0.779
20:259181:T:A	C55S	0.764
20:259182:G:C	C55S	0.764
20:259097:T:C	C27R	0.763
20:259199:T:C	F61L	0.738
20:259201:C:A	F61L	0.738
20:259201:C:G	F61L	0.738
20:259146:A:G	E43G	0.731
20:259185:G:A	C56Y	0.725
20:259123:C:G	C35W	0.724
20:259099:T:G	C27W	0.723
20:259126:G:C	R36S	0.723
20:259126:G:T	R36S	0.723
20:259186:C:G	C56W	0.721
20:259183:C:G	C55W	0.720
20:259121:T:A	C35S	0.717
20:259122:G:C	C35S	0.717
20:259163:T:C	C49R	0.717
20:259158:T:G	F47C	0.713
20:259184:T:C	C56R	0.712

dbSNP variants (sampled 300 via entrez): RS1000199102 (20:257845 G>A,C), RS1000484166 (20:259243 G>A,T), RS1001088783 (20:259485 A>G,T), RS1001410385 (20:260383 T>C), RS1001653795 (20:260003 G>A,C), RS1003083886 (20:261462 G>A), RS1003445020 (20:256089 G>A,C), RS1004364977 (20:261495 A>G), RS1004905115 (20:256057 G>T), RS1005501368 (20:260382 C>T), RS1007287947 (20:259750 T>C), RS1007504615 (20:257907 A>T), RS1007797652 (20:257631 T>C), RS1008385966 (20:256334 A>G), RS1008923686 (20:261240 C>T)

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

2 associations (top):

Study	Trait	p-value
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

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
terbufos	increases methylation	1
sodium arsenite	decreases expression	1
tebuconazole	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation	1
Fonofos	increases methylation	1
Methotrexate	increases expression	1
Parathion	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Dihydrotestosterone	increases expression	1
Testosterone	increases expression	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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