DEFB134

Summary

DEFB134 (defensin beta 134, HGNC:32399) is a protein-coding gene on chromosome 8p23.1, encoding Beta-defensin 134 (Q4QY38). 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 8p23.

Source: NCBI Gene 613211 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_001302695

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32399
Approved symbol	DEFB134
Name	defensin beta 134
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205882
Ensembl biotype	protein_coding
Entrez	613211

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000382205, ENST00000526438

RefSeq mRNA: 1 — MANE Select: NM_001302695 NM_001302695

CCDS: CCDS34847

Canonical transcript exons

ENST00000382205 — 3 exons

Exon	Start	End
ENSE00002142178	11993174	11994122
ENSE00003964388	12000708	12000752
ENSE00003964389	11996194	11996298

Expression profiles

Bgee: expression breadth broad, 54 present calls, max score 52.90.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0089 / max 15.0704, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91902	0.0089	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	52.90	gold quality
testis	UBERON:0000473	52.65	gold quality
right testis	UBERON:0004534	50.30	gold quality
body of pancreas	UBERON:0001150	50.22	gold quality
cerebellar hemisphere	UBERON:0002245	48.61	gold quality
cerebellar cortex	UBERON:0002129	48.55	gold quality
cerebellum	UBERON:0002037	48.46	gold quality
right hemisphere of cerebellum	UBERON:0014890	48.39	gold quality
pituitary gland	UBERON:0000007	44.13	gold quality
pancreas	UBERON:0001264	43.12	gold quality
adenohypophysis	UBERON:0002196	42.54	gold quality
Brodmann (1909) area 9	UBERON:0013540	40.32	gold quality
primary visual cortex	UBERON:0002436	39.52	gold quality
caudate nucleus	UBERON:0001873	37.78	gold quality
duodenum	UBERON:0002114	37.77	gold quality
brain	UBERON:0000955	37.24	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	36.61	silver 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
prostate gland	UBERON:0002367	35.90	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
amygdala	UBERON:0001876	35.43	silver quality
temporal lobe	UBERON:0001871	35.37	silver quality
putamen	UBERON:0001874	35.05	silver quality
nucleus accumbens	UBERON:0001882	34.98	gold quality
right frontal lobe	UBERON:0002810	34.73	silver quality
anterior cingulate cortex	UBERON:0009835	34.47	gold quality
cerebral cortex	UBERON:0000956	34.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.18

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The protein encoded by this gene is thought to display antimicrobial activity. (PMID:16033865)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb22	ENSMUSG00000027468
rattus_norvegicus	Defb22	ENSRNOG00000007525

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), DEFB132 (ENSG00000186458), DEFB121 (ENSG00000204548), DEFB135 (ENSG00000205883), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB115 (ENSG00000215547), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 134 — Q4QY38 (reviewed: Q4QY38)

Alternative names: Defensin, beta 134

All UniProt accessions (1): Q4QY38

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_001289624* (*=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-Q4QY38-F1	79.84	0.20

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): 32–58, 38–52, 42–59

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 18 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_RESPONSE_TO_BACTERIUM, MARTENS_TRETINOIN_RESPONSE_UP, REACTOME_ANTIMICROBIAL_PEPTIDES, HMGA1_TARGET_GENES, MIR466, MIR4799_5P, MIR12122, MIR449C_5P, MIR34B_5P, MIR2682_5P, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, WP_8P231_COPY_NUMBER_VARIATION_SYNDROME

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

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

Protein interactions and networks

STRING

181 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB134	DEFB135	Q30KP9	822
DEFB134	DEFB127	Q9H1M4	742
DEFB134	DEFB128	Q7Z7B8	699
DEFB134	DEFB125	Q8N687	676
DEFB134	DEFB114	Q30KQ6	666
DEFB134	DEFB124	Q8NES8	655
DEFB134	FAM86B1	Q8N7N1	577
DEFB134	DEFB131A	P59861	543
DEFB134	DEFB132	Q7Z7B7	531
DEFB134	DEFB110	Q30KQ9	514
DEFB134	WFDC8	Q8IUA0	506
DEFB134	EDDM3A	Q14507	465
DEFB134	QSER1	Q2KHR3	454
DEFB134	FAM167A	Q96KS9	436
DEFB134	DEFB129	Q9H1M3	432

IntAct

0 interactions, top by confidence:

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: Q30KJ5, Q32ZH6, Q4QY38, Q8R2I5, A4H206, A4H207, A4H208, A4H211, A4H212, A4H213, Q5IAB3, Q7TNV8, Q8N104

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	16
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

126 predictions. Top by Δscore:

Variant	Effect	Δscore
8:11996196:G:A	donor_gain	0.9300
8:11996248:T:TA	donor_gain	0.8700
8:11994119:ATAC:A	acceptor_loss	0.8400
8:11994120:TACCT:T	acceptor_loss	0.8400
8:11994121:AC:A	acceptor_loss	0.8400
8:11994122:CCTGG:C	acceptor_loss	0.8400
8:11994123:C:CA	acceptor_loss	0.8400
8:11994124:T:G	acceptor_loss	0.8400
8:11996263:T:TA	donor_gain	0.8400
8:11994125:G:C	acceptor_loss	0.8300
8:11994134:A:C	acceptor_loss	0.8300
8:11996190:TTACC:T	donor_loss	0.8300
8:11996191:TA:T	donor_loss	0.8300
8:11996192:ACC:A	donor_loss	0.8300
8:11996193:C:G	donor_loss	0.8300
8:11994138:A:C	acceptor_loss	0.8200
8:11996194:C:A	donor_loss	0.8100
8:11995958:C:CT	acceptor_gain	0.8000
8:11995444:CA:C	acceptor_gain	0.7400
8:11995959:A:T	acceptor_gain	0.7400
8:11995446:C:CC	acceptor_gain	0.7100
8:11995955:A:T	acceptor_gain	0.6700
8:11994127:A:C	acceptor_loss	0.6500
8:11994123:C:CC	acceptor_gain	0.6400
8:11994120:TAC:T	acceptor_gain	0.6200
8:11995219:CA:C	donor_gain	0.6100
8:11994546:C:CC	acceptor_gain	0.5700
8:11995445:A:AC	acceptor_gain	0.5600
8:11994545:A:C	acceptor_gain	0.5500
8:11995330:AG:A	donor_gain	0.5300

AlphaMissense

428 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:11994068:C:G	C38S	0.956
8:11994069:A:T	C38S	0.956
8:11994005:C:G	C59S	0.955
8:11994006:A:T	C59S	0.955
8:11994007:G:C	C58W	0.954
8:11994004:A:C	C59W	0.952
8:11994069:A:G	C38R	0.952
8:11994009:A:G	C58R	0.951
8:11994055:G:C	C42W	0.948
8:11994005:C:T	C59Y	0.947
8:11994044:T:A	E46V	0.942
8:11994075:C:A	G36C	0.942
8:11994025:A:C	C52W	0.941
8:11994057:A:G	C42R	0.940
8:11994008:C:G	C58S	0.932
8:11994009:A:T	C58S	0.932
8:11994067:G:C	C38W	0.932
8:11994086:C:G	C32S	0.927
8:11994087:A:T	C32S	0.927
8:11994068:C:T	C38Y	0.926
8:11994006:A:G	C59R	0.924
8:11994064:T:A	R39S	0.919
8:11994064:T:G	R39S	0.919
8:11994056:C:G	C42S	0.918
8:11994057:A:T	C42S	0.918
8:11994087:A:G	C32R	0.914
8:11994008:C:T	C58Y	0.905
8:11994085:G:C	C32W	0.904
8:11994026:C:T	C52Y	0.901
8:11994074:C:T	G36D	0.901

dbSNP variants (sampled 300 via entrez): RS1000288604 (8:11995585 A>G), RS1000362230 (8:11996002 G>C), RS1000482006 (8:12000307 G>A), RS1000592066 (8:12000605 T>G), RS1001349391 (8:11996987 G>A), RS1001888655 (8:12001192 T>C), RS1002245807 (8:11993198 C>G,T), RS1002259645 (8:11998103 C>T), RS1002356695 (8:11998104 T>C), RS1002415714 (8:11997619 A>G), RS1002486452 (8:12002172 G>A), RS1003143737 (8:11994426 T>C), RS1003303765 (8:11998818 T>C), RS1003423397 (8:11998812 A>G), RS1003843864 (8:11995452 G>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST010002_269	Refractive error	1.000000e-24
GCST010142_4	Fish- and plant-related diet	2.000000e-12
GCST010142_6	Fish- and plant-related diet	3.000000e-12
GCST010142_63	Fish- and plant-related diet	2.000000e-12
GCST010142_67	Fish- and plant-related diet	1.000000e-10
GCST010142_70	Fish- and plant-related diet	8.000000e-10
GCST010142_89	Fish- and plant-related diet	4.000000e-16
GCST010142_90	Fish- and plant-related diet	7.000000e-15
GCST010703_306	Brain morphology (MOSTest)	5.000000e-26
GCST012226_751	Waist circumference adjusted for body mass index	3.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists