DEFB130B

Summary

DEFB130B (defensin beta 130B, HGNC:39814) is a protein-coding gene on chromosome 8p23.1, encoding Beta-defensin 130B (P0DP73). Antimicrobial host-defense peptide.

Predicted to enable CCR6 chemokine receptor binding activity and chemoattractant activity. Predicted to be involved in cell chemotaxis and defense response to bacterium. Located in cytosol.

Source: NCBI Gene 100133267 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001195257

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:39814
Approved symbol	DEFB130B
Name	defensin beta 130B
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000233050
Ensembl biotype	protein_coding
Entrez	100133267

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000437818

RefSeq mRNA: 1 — MANE Select: NM_001195257 NM_001195257

CCDS: CCDS56524

Canonical transcript exons

ENST00000437818 — 2 exons

Exon	Start	End
ENSE00001591939	12064389	12064570
ENSE00001619111	12071690	12071747

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	37.20	gold 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
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
urinary bladder	UBERON:0001255	27.88	silver quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	24.85	gold quality
leukocyte	CL:0000738	24.80	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
monocyte	CL:0000576	24.52	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.83	gold quality
gastrocnemius	UBERON:0001388	23.63	gold quality
kidney	UBERON:0002113	23.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.05

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb47	ENSMUSG00000075573
rattus_norvegicus	Defb41	ENSRNOG00000085557

Paralogs (6): DEFB4A (ENSG00000171711), DEFB4B (ENSG00000177257), DEFB109C (ENSG00000205989), DEFB109B (ENSG00000206034), DEFB130A (ENSG00000232948), DEFB109D (ENSG00000254866)

Protein

Protein identifiers

Beta-defensin 130B — P0DP73 (reviewed: P0DP73)

All UniProt accessions (1): P0DP73

UniProt curated annotations — full annotation on UniProt →

Function. Antimicrobial host-defense peptide. Has an antiplasmodial activity.

Subcellular location. Secreted.

Tissue specificity. Expressed on differentiated macrophage phagocytizing plasmodium falciparum-parasitized erythrocytes.

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (1): NP_001182186* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001855	Defensin_beta-like	Domain

Pfam: PF00711

UniProt features (4 total): disulfide bond 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DP73-F1	83.22	0.34

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 (2): 38–53, 43–60

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 23 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_CELL_CHEMOTAXIS, GOBP_TAXIS, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_POSITIVE_CHEMOTAXIS, GOMF_CHEMOATTRACTANT_ACTIVITY, GOMF_CCR_CHEMOKINE_RECEPTOR_BINDING, GOBP_RESPONSE_TO_BACTERIUM, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY, GOMF_CCR6_CHEMOKINE_RECEPTOR_BINDING, REACTOME_ANTIMICROBIAL_PEPTIDES, GOBP_LOCOMOTION, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS

GO Biological Process (5): defense response to bacterium (GO:0042742), cell chemotaxis (GO:0060326), defense response (GO:0006952), positive chemotaxis (GO:0050918), defense response to other organism (GO:0098542)

GO Molecular Function (2): CCR6 chemokine receptor binding (GO:0031731), chemoattractant activity (GO:0042056)

GO Cellular Component (2): obsolete extracellular space (GO:0005615), 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	2
chemotaxis	2
response to bacterium	1
cell migration	1
cellular response to chemical stimulus	1
response to stress	1
response to other organism	1
CCR chemokine receptor binding	1
receptor ligand activity	1
positive chemotaxis	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: 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: 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

191 predictions. Top by Δscore:

Variant	Effect	Δscore
8:12071482:TGA:T	donor_gain	0.9200
8:12071684:TCTTA:T	donor_loss	0.9100
8:12071685:CTTAC:C	donor_loss	0.9100
8:12071686:TTAC:T	donor_loss	0.9100
8:12071687:TACCT:T	donor_loss	0.9100
8:12071688:A:AT	donor_loss	0.9100
8:12071541:A:AC	donor_gain	0.8100
8:12071577:T:TA	donor_gain	0.7900
8:12071688:A:AC	donor_gain	0.7700
8:12071689:C:CC	donor_gain	0.7700
8:12071488:C:CA	donor_gain	0.7600
8:12064566:CTTTC:C	acceptor_gain	0.7200
8:12066455:C:CA	acceptor_gain	0.6800
8:12071690:C:A	donor_loss	0.6200
8:12064567:TTTCC:T	acceptor_loss	0.6100
8:12064568:TTCC:T	acceptor_loss	0.6100
8:12064571:CTA:C	acceptor_loss	0.6100
8:12064572:T:TC	acceptor_loss	0.6100
8:12064573:A:C	acceptor_loss	0.6000
8:12064574:C:CT	acceptor_loss	0.6000
8:12064585:A:C	acceptor_loss	0.6000
8:12064587:T:C	acceptor_loss	0.6000
8:12071627:T:C	donor_gain	0.6000
8:12064586:T:C	acceptor_loss	0.5900
8:12064576:C:CT	acceptor_loss	0.5800
8:12064575:A:T	acceptor_loss	0.5700
8:12064597:CAT:C	acceptor_loss	0.5700
8:12064599:T:TC	acceptor_loss	0.5700
8:12068270:G:C	donor_gain	0.5600
8:12064579:GAAGA:G	acceptor_loss	0.5500

AlphaMissense

505 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1002440634 (8:12064893 CA>C), RS1002650972 (8:12064675 T>C), RS1003241928 (8:12066649 G>T), RS1004208916 (8:12071185 C>A), RS1004455692 (8:12072870 C>A), RS1007369301 (8:12066595 A>C,G), RS1007426537 (8:12066321 C>A,G), RS1007957129 (8:12070908 T>G), RS1008846287 (8:12069834 T>A,C), RS1010875206 (8:12065777 A>T), RS1011013965 (8:12065049 C>G), RS1012002682 (8:12067003 G>A,C), RS1012361871 (8:12068861 G>C), RS1017487123 (8:12066126 T>C), RS1017853679 (8:12066325 T>C,G)

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

Clinical trials (associated diseases)

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