DEFB119

Summary

DEFB119 (defensin beta 119, HGNC:18099) is a protein-coding gene on chromosome 20q11.21, encoding Beta-defensin 119 (Q8N690). Has antibacterial activity.

This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 245932 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 25 total
• MANE Select transcript: NM_153289

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18099
Approved symbol	DEFB119
Name	defensin beta 119
Location	20q11.21
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-19, DEFB-20
Ensembl gene	ENSG00000180483
Ensembl biotype	protein_coding
OMIM	615997
Entrez	245932

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000339144, ENST00000376315, ENST00000376321, ENST00000492344

RefSeq mRNA: 3 — MANE Select: NM_153289 NM_001271209, NM_153289, NM_153323

CCDS: CCDS13178, CCDS33455

Canonical transcript exons

ENST00000376321 — 2 exons

Exon	Start	End
ENSE00001957743	31390423	31390590
ENSE00003558478	31377164	31377439

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 99.74.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9253 / max 720.7922, expressed in 11 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186819	0.5749	10
186821	0.2779	9
186820	0.0725	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	99.74	gold quality
right testis	UBERON:0004534	99.69	gold quality
left testis	UBERON:0004533	99.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	97.86	gold quality
testis	UBERON:0000473	96.54	gold quality
adult organism	UBERON:0007023	94.98	gold quality
cauda epididymis	UBERON:0004360	72.55	gold quality
buccal mucosa cell	CL:0002336	72.10	silver quality
caput epididymis	UBERON:0004358	70.59	gold quality
sperm	CL:0000019	65.40	silver quality
endothelial cell	CL:0000115	58.73	gold quality
pancreatic ductal cell	CL:0002079	58.00	silver quality
epithelial cell of pancreas	CL:0000083	54.41	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
upper arm skin	UBERON:0004263	53.52	gold quality
lateral globus pallidus	UBERON:0002476	52.69	gold quality
right coronary artery	UBERON:0001625	52.05	gold quality
tibialis anterior	UBERON:0001385	50.90	silver quality
myocardium	UBERON:0002349	50.25	gold quality
deltoid	UBERON:0001476	49.67	gold quality
pigmented layer of retina	UBERON:0001782	48.14	silver quality
metanephros cortex	UBERON:0010533	47.43	gold quality
quadriceps femoris	UBERON:0001377	47.12	gold quality
ileal mucosa	UBERON:0000331	47.11	silver quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
metanephros	UBERON:0000081	46.89	gold quality
ectocervix	UBERON:0012249	45.98	gold quality
vastus lateralis	UBERON:0001379	45.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	3114.29
E-ANND-3	no	1.73

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• A couple of isoforms encoded by this gene are thought to display antimicrobial activity. (PMID:15772680)
• beta-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility. (PMID:36513070)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb19	ENSMUSG00000050645
rattus_norvegicus	Defb24	ENSRNOG00000036897

Paralogs (19): DEFB127 (ENSG00000088782), DEFB129 (ENSG00000125903), DEFB118 (ENSG00000131068), DEFB104A (ENSG00000176782), DEFB104B (ENSG00000177023), DEFB125 (ENSG00000178591), DEFB124 (ENSG00000180383), DEFB123 (ENSG00000180424), 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 119 — Q8N690 (reviewed: Q8N690)

Alternative names: Beta-defensin 120, Beta-defensin 19, Beta-defensin 20, Defensin, beta 119, Defensin, beta 120, ESC42-RELA

All UniProt accessions (1): Q8N690

UniProt curated annotations — full annotation on UniProt →

Function. Has antibacterial activity.

Subcellular location. Secreted.

Tissue specificity. Abundant expression in the male reproductive tract only. Abundant expressed in testis and the caput region of epididymis, but low in the corpus region.

Miscellaneous. Abundantly expressed in testis.

Similarity. Belongs to the beta-defensin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N690-1	1	yes
Q8N690-2	2
Q8N690-3	3, b

RefSeq proteins (3): NP_001258138, NP_695021, NP_697018 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028060	Defensin_big_dom	Domain

Pfam: PF14862

UniProt features (7 total): disulfide bond 3, splice variant 2, signal peptide 1, peptide 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N690-F1	74.07	0.17

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): 28–55, 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: 30 (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, chr20q11, GOBP_RESPONSE_TO_FUNGUS, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOMF_LIPOPOLYSACCHARIDE_BINDING, PIONTEK_PKD1_TARGETS_DN, GOBP_RESPONSE_TO_BACTERIUM, GOMF_LIPID_BINDING, GOBP_ANTIFUNGAL_INNATE_IMMUNE_RESPONSE, REACTOME_ANTIMICROBIAL_PEPTIDES, NFE2L2.V2, GSE14769_40MIN_VS_360MIN_LPS_BMDM_DN

GO Biological Process (5): 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), innate immune response (GO:0045087)

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 to bacterium	2
response to stress	1
defense response	1
response to bacterium	1
immune response	1
defense response to symbiont	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CFTR	DEFB119	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (1): DEFB119 (PCA)

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: A4H225, A4H226, A4H227, A4H228, Q30KK6, Q30KK8, Q30KL1, Q30KQ4, Q30KT5, Q32P86, Q5J5C9, Q5J600, Q5J602, Q8K3I8, Q8N690, Q9BEE3, A4H220, A4H221, A4H222, A4H223, A4H235, A4H236, Q30KK5, Q30KK9, Q30KP9, Q5J5D0, Q8N688, Q95LI0, Q96PH6, A4H243, A4H244, A4H245, Q30KK2, Q30KK4, Q8NES8, Q9BYW3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

256 predictions. Top by Δscore:

Variant	Effect	Δscore
20:31377435:TTTGC:T	acceptor_gain	0.9900
20:31377436:TTGC:T	acceptor_gain	0.9900
20:31377437:TGC:T	acceptor_gain	0.9900
20:31377437:TGCC:T	acceptor_loss	0.9900
20:31377438:GC:G	acceptor_gain	0.9900
20:31377438:GCCTG:G	acceptor_loss	0.9900
20:31377439:CC:C	acceptor_gain	0.9900
20:31377439:CCTGC:C	acceptor_loss	0.9900
20:31377440:C:CC	acceptor_gain	0.9900
20:31377441:T:A	acceptor_loss	0.9900
20:31377444:C:CT	acceptor_gain	0.9900
20:31377444:C:T	acceptor_gain	0.9900
20:31377445:A:T	acceptor_gain	0.9900
20:31378398:C:CT	acceptor_gain	0.9900
20:31378399:A:T	acceptor_gain	0.9900
20:31390418:GTTAC:G	donor_loss	0.9900
20:31390419:TTACC:T	donor_loss	0.9900
20:31390420:TACCT:T	donor_loss	0.9900
20:31390421:ACCT:A	donor_loss	0.9900
20:31377741:C:A	donor_gain	0.9800
20:31378392:C:CC	acceptor_gain	0.9800
20:31377709:TCAGG:T	donor_gain	0.9700
20:31378389:GAG:G	acceptor_gain	0.9300
20:31390421:A:AC	donor_gain	0.9200
20:31390422:C:CC	donor_gain	0.9200
20:31378343:TCC:T	donor_gain	0.9000
20:31389148:CCGT:C	donor_gain	0.8900
20:31378391:GCT:G	acceptor_loss	0.8800
20:31378392:C:CA	acceptor_loss	0.8800
20:31378393:T:C	acceptor_loss	0.8800

AlphaMissense

548 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:31377418:C:G	C28S	0.977
20:31377419:A:T	C28S	0.977
20:31377397:C:G	C35S	0.972
20:31377398:A:T	C35S	0.972
20:31377336:G:C	C55W	0.971
20:31377385:C:G	C39S	0.970
20:31377386:A:T	C39S	0.970
20:31377373:T:A	E43V	0.966
20:31377331:A:G	L57P	0.962
20:31377337:C:G	C55S	0.962
20:31377338:A:T	C55S	0.962
20:31377403:C:T	G33E	0.961
20:31377337:C:T	C55Y	0.960
20:31377334:C:G	C56S	0.955
20:31377335:A:T	C56S	0.955
20:31377419:A:G	C28R	0.955
20:31377398:A:G	C35R	0.953
20:31377417:G:C	C28W	0.953
20:31377385:C:T	C39Y	0.951
20:31377396:A:C	C35W	0.950
20:31377393:C:A	R36S	0.948
20:31377393:C:G	R36S	0.948
20:31377386:A:G	C39R	0.946
20:31377394:C:A	R36M	0.946
20:31377355:C:G	C49S	0.945
20:31377356:A:T	C49S	0.945
20:31377333:G:C	C56W	0.944
20:31377397:C:T	C35Y	0.944
20:31377338:A:G	C55R	0.942
20:31377418:C:T	C28Y	0.939

dbSNP variants (sampled 300 via entrez): RS1000064027 (20:31389530 A>G,T), RS1000124181 (20:31388322 C>A,T), RS1000215939 (20:31383706 G>T), RS1000293587 (20:31378049 G>A), RS1000435878 (20:31383822 G>A,T), RS1000445499 (20:31383788 A>T), RS1000567139 (20:31379572 C>G), RS1000618343 (20:31391172 G>A), RS1000687042 (20:31389797 C>T), RS1000774549 (20:31378073 T>C), RS1001227118 (20:31379172 A>G), RS1001623824 (20:31391458 C>T), RS1001977021 (20:31384847 T>C), RS1002135692 (20:31390856 T>C,G), RS1002232272 (20:31386720 A>G,T)

Disease associations

OMIM: gene MIM:615997 | 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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1
Silicon Dioxide	increases expression	1

Clinical trials (associated diseases)

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