DEFB109C

Summary

DEFB109C (defensin beta 109C (gene/pseudogene), HGNC:43844) is a protein-coding gene on chromosome 8p23.1, encoding Beta-defensin 109C (P0DY27). Has antibacterial activity.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:43844
Approved symbol	DEFB109C
Name	defensin beta 109C (gene/pseudogene)
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205989
Ensembl biotype	protein_coding
Entrez	100286963

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000382575

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000382575 — 2 exons

Exon	Start	End
ENSE00002045473	7990270	7990620
ENSE00002081063	7997464	7997645

Expression profiles

Bgee: expression breadth broad, 85 present calls, max score 63.35.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	63.35	gold quality
mucosa of transverse colon	UBERON:0004991	52.39	gold quality
hindlimb stylopod muscle	UBERON:0004252	50.11	gold quality
rectum	UBERON:0001052	47.59	gold quality
ganglionic eminence	UBERON:0004023	44.42	gold quality
granulocyte	CL:0000094	44.40	silver quality
cortical plate	UBERON:0005343	43.42	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
duodenum	UBERON:0002114	37.04	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
calcaneal tendon	UBERON:0003701	36.33	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
skeletal muscle tissue	UBERON:0001134	35.33	gold quality
muscle tissue	UBERON:0002385	34.66	silver quality
bone marrow	UBERON:0002371	33.68	silver quality
cortex of kidney	UBERON:0001225	33.03	gold quality
smooth muscle tissue	UBERON:0001135	32.47	gold quality
urinary bladder	UBERON:0001255	32.41	gold quality
placenta	UBERON:0001987	31.43	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
right adrenal gland cortex	UBERON:0035827	30.80	gold quality
primary visual cortex	UBERON:0002436	30.37	gold quality
vermiform appendix	UBERON:0001154	30.22	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
superior frontal gyrus	UBERON:0002661	29.61	gold quality
fundus of stomach	UBERON:0001160	29.46	gold quality
tonsil	UBERON:0002372	29.34	gold quality
islet of Langerhans	UBERON:0000006	29.04	gold quality
uterine cervix	UBERON:0000002	28.96	silver quality
kidney	UBERON:0002113	28.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.24

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• The encoded protein is thought to have antimicrobial activity. (PMID:16033865)
• Corneal and limbal epithelia and corneal stroma demonstrated modest levels of HBD9, whereas conjunctival epithelium demonstrated high levels of HBD9 protein (PMID:20375350)
• In contrast to hBD3, hBD9 was significantly downregulated in both AK and Gram-positive BK, whereas it showed an insignificant decrease in Gram-negative BK (PMID:22232436)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb48	ENSMUSG00000075574
rattus_norvegicus	Defb42	ENSRNOG00000038762

Paralogs (6): DEFB4A (ENSG00000171711), DEFB4B (ENSG00000177257), DEFB109B (ENSG00000206034), DEFB130A (ENSG00000232948), DEFB130B (ENSG00000233050), DEFB109D (ENSG00000254866)

Protein

Protein identifiers

Beta-defensin 109C — P0DY27 (reviewed: P0DY27)

All UniProt accessions (1): P0DY27

UniProt curated annotations — full annotation on UniProt →

Function. Has antibacterial activity.

Subcellular location. Secreted.

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

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-P0DY27-F1	80.14	0.28

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

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr8p23

GO Biological Process (0):

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
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.