DEFB130A

Summary

DEFB130A (defensin beta 130A, HGNC:18107) is a protein-coding gene on chromosome 8p23.1, encoding Beta-defensin 130A (P0DP74). Antimicrobial host-defense peptide.

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 245940 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_001037804

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18107
Approved symbol	DEFB130A
Name	defensin beta 130A
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-30, DEFB30
Ensembl gene	ENSG00000232948
Ensembl biotype	protein_coding
Entrez	245940

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000400079

RefSeq mRNA: 1 — MANE Select: NM_001037804 NM_001037804

CCDS: CCDS43714

Canonical transcript exons

ENST00000400079 — 2 exons

Exon	Start	End
ENSE00001730317	12310962	12311143
ENSE00001755969	12318259	12318316

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	0.04

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• The protein encoded by this gene is thought to display antimicrobial activity. (PMID:16033865)
• these results suggest that DEFB130 might be one of the macrophage effector molecules for eliminating malarial parasites. Our data broaden our knowledge of the immunological response of macrophages to iRBCs and shed light on a new target for therapeutic intervention. (PMID:28181499)

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), DEFB130B (ENSG00000233050), DEFB109D (ENSG00000254866)

Protein

Protein identifiers

Beta-defensin 130A — P0DP74 (reviewed: P0DP74)

Alternative names: Beta-defensin 130, Beta-defensin 30, Defensin, beta 130

All UniProt accessions (1): P0DP74

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_001032893* (*=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-P0DP74-F1	84.04	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: 37 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_CELL_CHEMOTAXIS, GOBP_TAXIS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_RESPONSE_TO_PROTOZOAN, GOBP_HUMORAL_IMMUNE_RESPONSE, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_SYMBIONT, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_CELL_KILLING, GOBP_POSITIVE_CHEMOTAXIS, GOMF_CHEMOATTRACTANT_ACTIVITY, GOMF_CCR_CHEMOKINE_RECEPTOR_BINDING

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

266 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB130A	SPMIP1	A0A1B0GUX0	598
DEFB130A	ZNF705D	P0CH99	593
DEFB130A	DEFB125	Q8N687	538
DEFB130A	DEFB135	Q30KP9	491
DEFB130A	OR2T29	Q8NH02	472
DEFB130A	DEFB118	Q96PH6	462
DEFB130A	DEFB131A	P59861	461
DEFB130A	CIMAP1C	Q8IXM7	447
DEFB130A	CCDC198	Q9NVL8	445
DEFB130A	A0A0G2JN59	A0A0G2JN59	441
DEFB130A	CCER1	Q8TC90	438
DEFB130A	OR5H2	Q8NGV7	432
DEFB130A	OR2M4	Q96R27	418
DEFB130A	F2Z2I4	F2Z2I4	417
DEFB130A	SPAG11A	Q6PDA7	409

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

174 predictions. Top by Δscore:

Variant	Effect	Δscore
8:12318051:TGA:T	donor_gain	0.9100
8:12318253:TCTTA:T	donor_loss	0.9100
8:12318254:CTTA:C	donor_loss	0.9100
8:12318255:TTAC:T	donor_loss	0.9100
8:12318256:TACCT:T	donor_loss	0.9100
8:12318257:ACCT:A	donor_loss	0.9100
8:12318258:C:CG	donor_loss	0.9100
8:12318110:A:AC	donor_gain	0.7800
8:12318146:T:TA	donor_gain	0.7800
8:12318057:C:CA	donor_gain	0.7700
8:12318257:A:AC	donor_gain	0.7700
8:12318258:C:CC	donor_gain	0.7700
8:12311139:CTTTC:C	acceptor_gain	0.7300
8:12318259:C:A	donor_loss	0.6300
8:12311140:TTTCC:T	acceptor_loss	0.6100
8:12311141:TTCCT:T	acceptor_loss	0.6100
8:12311143:CCTAC:C	acceptor_loss	0.6100
8:12311144:C:T	acceptor_loss	0.6100
8:12311145:T:A	acceptor_loss	0.6100
8:12311146:A:C	acceptor_loss	0.6000
8:12311160:T:TC	acceptor_loss	0.6000
8:12318196:T:C	donor_gain	0.6000
8:12311147:C:CT	acceptor_loss	0.5900
8:12311158:A:C	acceptor_loss	0.5900
8:12311159:T:C	acceptor_loss	0.5900
8:12311148:A:T	acceptor_loss	0.5700
8:12311149:C:CT	acceptor_loss	0.5700
8:12311170:CAT:C	acceptor_loss	0.5600
8:12311172:T:TC	acceptor_loss	0.5600
8:12311153:A:T	acceptor_loss	0.5500

AlphaMissense

505 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:12311010:C:A	W64C	0.987
8:12311010:C:G	W64C	0.987
8:12311013:C:A	W63C	0.986
8:12311013:C:G	W63C	0.986
8:12311110:C:G	C31S	0.972
8:12311111:A:T	C31S	0.972
8:12311026:C:G	C59S	0.968
8:12311027:A:T	C59S	0.968
8:12311012:A:G	W64R	0.962
8:12311012:A:T	W64R	0.962
8:12311019:T:A	R61S	0.961
8:12311019:T:G	R61S	0.961
8:12311044:C:G	C53S	0.961
8:12311045:A:T	C53S	0.961
8:12311023:C:G	C60S	0.957
8:12311024:A:T	C60S	0.957
8:12311027:A:G	C59R	0.954
8:12311096:C:A	G36W	0.951
8:12311089:C:G	C38S	0.950
8:12311090:A:T	C38S	0.950
8:12311015:A:G	W63R	0.948
8:12311015:A:T	W63R	0.948
8:12311025:A:C	C59W	0.948
8:12311096:C:G	G36R	0.947
8:12311096:C:T	G36R	0.947
8:12311074:C:G	C43S	0.946
8:12311075:A:T	C43S	0.946
8:12311090:A:G	C38R	0.943
8:12311023:C:T	C60Y	0.942
8:12311111:A:G	C31R	0.942

dbSNP variants (sampled 300 via entrez): RS1000305354 (8:12315392 G>C), RS1000655820 (8:12314985 G>T), RS1001259237 (8:12316725 C>A,G), RS1001711686 (8:12316907 C>T), RS1002311261 (8:12318678 CTGTTTTTTTTTGTTT>C), RS1002665612 (8:12318397 C>T), RS1003258326 (8:12319513 T>A), RS1003719936 (8:12319691 T>A,C), RS1004385863 (8:12314701 C>T), RS1004439699 (8:12314910 C>G,T), RS1005434523 (8:12316479 G>A,T), RS1006254143 (8:12317252 G>T), RS1006494213 (8:12318351 G>A,C), RS1006842856 (8:12317868 T>C,G), RS1007444173 (8:12319276 G>C)

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

8 associations (top):

Study	Trait	p-value
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

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

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.