DEFB109D

Summary

DEFB109D (defensin beta 109D (gene/pseudogene), HGNC:30838) is a protein-coding gene on chromosome 8p23.1, encoding Beta-defensin 109D (P0DY26). Has antibacterial activity.

Predicted to be involved in defense response to bacterium. Predicted to be located in Golgi lumen and extracellular region.

Source: NCBI Gene 503838 — RefSeq curated summary.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30838
Approved symbol	DEFB109D
Name	defensin beta 109D (gene/pseudogene)
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000254866
Ensembl biotype	protein_coding
Entrez	503838

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding_LoF

ENST00000529497

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000529497 — 2 exons

Exon	Start	End
ENSE00002183017	12150888	12151093
ENSE00004013054	12157976	12158033

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 89.94.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.94	gold quality
stromal cell of endometrium	CL:0002255	76.70	gold quality
adenohypophysis	UBERON:0002196	69.39	gold quality
mucosa of stomach	UBERON:0001199	69.01	gold quality
apex of heart	UBERON:0002098	67.96	gold quality
left ovary	UBERON:0002119	67.78	gold quality
right ovary	UBERON:0002118	66.01	gold quality
right uterine tube	UBERON:0001302	65.52	gold quality
pituitary gland	UBERON:0000007	65.48	gold quality
tibial nerve	UBERON:0001323	65.40	gold quality
ovary	UBERON:0000992	65.31	gold quality
corpus callosum	UBERON:0002336	64.67	gold quality
endocervix	UBERON:0000458	63.32	gold quality
calcaneal tendon	UBERON:0003701	62.85	gold quality
granulocyte	CL:0000094	62.06	gold quality
lower esophagus mucosa	UBERON:0035834	61.61	gold quality
ectocervix	UBERON:0012249	60.36	gold quality
rectum	UBERON:0001052	60.34	gold quality
left uterine tube	UBERON:0001303	60.30	gold quality
endometrium	UBERON:0001295	60.05	gold quality
mucosa of transverse colon	UBERON:0004991	60.04	gold quality
right lung	UBERON:0002167	59.98	gold quality
myometrium	UBERON:0001296	59.92	gold quality
prostate gland	UBERON:0002367	59.69	gold quality
ascending aorta	UBERON:0001496	59.66	gold quality
subcutaneous adipose tissue	UBERON:0002190	59.50	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	59.42	gold quality
body of uterus	UBERON:0009853	58.96	gold quality
substantia nigra	UBERON:0002038	58.95	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	58.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.48

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb48	ENSMUSG00000075574
rattus_norvegicus	Defb42	ENSRNOG00000038762

Paralogs (6): DEFB4A (ENSG00000171711), DEFB4B (ENSG00000177257), DEFB109C (ENSG00000205989), DEFB109B (ENSG00000206034), DEFB130A (ENSG00000232948), DEFB130B (ENSG00000233050)

Protein

Protein identifiers

Beta-defensin 109D — P0DY26 (reviewed: P0DY26)

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Has antibacterial activity.

Subcellular location. Secreted.

Polymorphism. The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 14 in the reference genome. The sequence shown in this entry is that of variant p.Ter14Lys, which has a frequency of about 99.9% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2).

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006080	Beta/alpha-defensin_C	Domain

UniProt features (7 total): disulfide bond 3, signal peptide 1, chain 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DY26-F1	80.25	0.26

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): 31–59, 38–53, 43–60

Glycosylation sites (1): 33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr8p23

GO Biological Process (1): defense response (GO:0006952)

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to stress	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

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: P0DP73, P0DP74, P0DY26, P0DY27, Q30KJ9, Q30KL7, Q30KR1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

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: 0 entries

Clinical trials (associated diseases)

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