DEFB131A

Summary

DEFB131A (defensin beta 131A, HGNC:18108) is a protein-coding gene on chromosome 4p16.1, encoding Beta-defensin 131A (P59861). Has antibacterial activity.

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 4p16.

Source: NCBI Gene 644414 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_001040448

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18108
Approved symbol	DEFB131A
Name	defensin beta 131A
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-31
Ensembl gene	ENSG00000186146
Ensembl biotype	protein_coding
Entrez	644414

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334879

RefSeq mRNA: 1 — MANE Select: NM_001040448 NM_001040448

CCDS: CCDS43213

Canonical transcript exons

ENST00000334879 — 2 exons

Exon	Start	End
ENSE00001339101	9444414	9444591
ENSE00001800099	9450360	9450666

Expression profiles

Bgee: expression breadth broad, 76 present calls, max score 84.18.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0800 / max 47.3043, expressed in 6 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46904	0.0436	5
46905	0.0364	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	84.18	gold quality
left lobe of thyroid gland	UBERON:0001120	64.38	gold quality
right lobe of thyroid gland	UBERON:0001119	61.48	gold quality
thyroid gland	UBERON:0002046	61.35	gold quality
small intestine	UBERON:0002108	56.11	gold quality
small intestine Peyer’s patch	UBERON:0003454	55.05	gold quality
ventricular zone	UBERON:0003053	43.18	gold quality
primary visual cortex	UBERON:0002436	39.02	gold quality
colonic epithelium	UBERON:0000397	37.20	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
intestine	UBERON:0000160	33.84	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
lymph node	UBERON:0000029	29.66	gold quality
liver	UBERON:0002107	29.57	gold quality
rectum	UBERON:0001052	27.83	gold quality
blood	UBERON:0000178	27.17	gold quality
tonsil	UBERON:0002372	27.05	gold quality
muscle of leg	UBERON:0001383	26.94	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
leukocyte	CL:0000738	26.21	gold quality
monocyte	CL:0000576	26.07	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MAPK14, RELA, TLR2

Literature-anchored findings (GeneRIF, showing 2)

• The protein encoded by this gene is thought to display antimicrobial activity. (PMID:16033865)
• DEFB131 induces cytokine and chemokine upregulation through the TLR2/NF-kappaB signaling pathway in RWPE-1 cells during bacterial infection and promotes an innate immune response (PMID:26649771)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb43	ENSMUSG00000075572
rattus_norvegicus	Defb43	ENSRNOG00000038759

Paralogs (19): DEFB127 (ENSG00000088782), DEFB129 (ENSG00000125903), DEFB118 (ENSG00000131068), DEFB104A (ENSG00000176782), DEFB104B (ENSG00000177023), DEFB125 (ENSG00000178591), DEFB124 (ENSG00000180383), DEFB123 (ENSG00000180424), DEFB119 (ENSG00000180483), DEFB108B (ENSG00000184276), DEFB128 (ENSG00000185982), DEFB132 (ENSG00000186458), DEFB121 (ENSG00000204548), DEFB134 (ENSG00000205882), DEFB135 (ENSG00000205883), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB115 (ENSG00000215547), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 131A — P59861 (reviewed: P59861)

Alternative names: Beta-defensin 31, Defensin, beta 131

All UniProt accessions (1): P59861

UniProt curated annotations — full annotation on UniProt →

Function. Has antibacterial activity. Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion.

Subcellular location. Secreted.

Tissue specificity. Highly expressed in testis. Is moderately expressed in the prostate and small intestine.

Induction. Up-regulated upon stimulation with lipoteichoic acid.

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (1): NP_001035538* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain

Pfam: PF13841

UniProt features (6 total): disulfide bond 3, signal peptide 1, peptide 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P59861-F1	69.89	0.00

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): 29–56, 36–50, 40–57

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 58 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM

GO Biological Process (3): defense response to bacterium (GO:0042742), innate immune response (GO:0045087), defense response (GO:0006952)

GO Molecular Function (1): protein binding (GO:0005515)

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

Protein interactions and networks

STRING

148 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB131A	DEFB127	Q9H1M4	590
DEFB131A	DEFB118	Q96PH6	576
DEFB131A	DEFB134	Q4QY38	543
DEFB131A	DEFB121	Q5J5C9	530
DEFB131A	CST5	P28325	520
DEFB131A	DEFB128	Q7Z7B8	507
DEFB131A	DEFB126	Q9BYW3	480
DEFB131A	DEFB129	Q9H1M3	478
DEFB131A	WFDC8	Q8IUA0	478
DEFB131A	DEFB110	Q30KQ9	471
DEFB131A	DEFB130A	P0DP74	461
DEFB131A	DEFB132	Q7Z7B7	436
DEFB131A	DEFB123	Q8N688	433
DEFB131A	BPIFA3	Q9BQP9	419
DEFB131A	WFDC12	Q8WWY7	417

IntAct

7 interactions, top by confidence:

A	B	Type	Score
SGTA	DEFB131A	psi-mi:“MI:0915”(physical association)	0.560
DEFB131A	AHNAK2	psi-mi:“MI:0914”(association)	0.350
DEFB131A	SGTA	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (4): DEFB131 (Two-hybrid), AHNAK2 (Affinity Capture-MS), LRRC8A (Affinity Capture-MS), RBM12 (Affinity Capture-MS)

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: A0A096LNP1, P59861, Q30KJ8, Q30KM9, Q32ZF3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

155 predictions. Top by Δscore:

Variant	Effect	Δscore
4:9444589:CAGGT:C	donor_loss	0.9900
4:9444593:T:A	donor_loss	0.9800
4:9450356:A:AG	acceptor_gain	0.9800
4:9447094:T:G	donor_gain	0.9700
4:9450357:A:G	acceptor_gain	0.9600
4:9444592:G:GG	donor_gain	0.9500
4:9450358:A:AG	acceptor_gain	0.9500
4:9450359:G:GG	acceptor_gain	0.9500
4:9450359:GCCA:G	acceptor_gain	0.9200
4:9447087:A:G	donor_gain	0.8500
4:9450356:AAAGC:A	acceptor_gain	0.8500
4:9450392:TCAGA:T	acceptor_gain	0.8500
4:9450393:CAGAA:C	acceptor_gain	0.8500
4:9450391:TTCAG:T	acceptor_gain	0.8400
4:9450394:AGAA:A	acceptor_gain	0.8400
4:9450355:TAAAG:T	acceptor_gain	0.8300
4:9447073:G:GT	donor_gain	0.8100
4:9450356:AAAG:A	acceptor_loss	0.8100
4:9450358:AGCCA:A	acceptor_loss	0.8100
4:9450390:CTTCA:C	acceptor_gain	0.8100
4:9450395:G:T	acceptor_gain	0.8000
4:9450357:AAGC:A	acceptor_gain	0.7800
4:9450394:AGA:A	acceptor_loss	0.7800
4:9450358:AGC:A	acceptor_gain	0.7600
4:9444590:AG:A	donor_gain	0.7500
4:9444591:GG:G	donor_gain	0.7500
4:9450338:AATTT:A	acceptor_loss	0.7200
4:9444587:TCCAG:T	donor_gain	0.7100
4:9444588:CCAG:C	donor_gain	0.7000
4:9450390:C:CT	acceptor_gain	0.7000

AlphaMissense

467 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:9450419:T:A	C40S	0.980
4:9450420:G:C	C40S	0.980
4:9450470:T:A	C57S	0.975
4:9450471:G:C	C57S	0.975
4:9450471:G:A	C57Y	0.973
4:9450419:T:C	C40R	0.970
4:9450467:T:A	C56S	0.966
4:9450468:G:C	C56S	0.966
4:9450450:G:A	C50Y	0.964
4:9450472:C:G	C57W	0.964
4:9450467:T:C	C56R	0.963
4:9450451:T:G	C50W	0.962
4:9450449:T:A	C50S	0.959
4:9450450:G:C	C50S	0.959
4:9450469:C:G	C56W	0.959
4:9450468:G:A	C56Y	0.956
4:9450470:T:C	C57R	0.956
4:9450407:T:A	C36S	0.955
4:9450408:G:C	C36S	0.955
4:9450409:C:G	C36W	0.951
4:9450420:G:A	C40Y	0.951
4:9450421:C:G	C40W	0.950
4:9450471:G:T	C57F	0.950
4:9450420:G:T	C40F	0.948
4:9450449:T:C	C50R	0.948
4:9450408:G:A	C36Y	0.937
4:9450432:A:T	E44V	0.933
4:9450407:T:C	C36R	0.931
4:9450450:G:T	C50F	0.922
4:9450433:A:C	E44D	0.920

dbSNP variants (sampled 300 via entrez): RS1000559631 (4:9444826 A>T), RS1000736453 (4:9448920 A>G), RS1000785214 (4:9449196 C>T), RS10015493 (4:9443505 G>A), RS1001593422 (4:9449493 T>A,C), RS1001853493 (4:9445374 G>A), RS1002519068 (4:9447559 G>A,C), RS1002541331 (4:9445211 G>A,T), RS1002566188 (4:9443036 G>A,C), RS1002650340 (4:9451125 A>G), RS10027113 (4:9444147 C>A,G,T), RS10030667 (4:9447978 G>A,T), RS10031337 (4:9444066 A>G,T), RS10031636 (4:9444339 A>G), RS1003210254 (4:9447396 T>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

3 associations (top):

Study	Trait	p-value
GCST007628_1	Impulsivity (motor)	3.000000e-07
GCST008972_146	Urate levels	5.000000e-21
GCST008972_48	Urate levels	2.000000e-35

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006946	behavioural disinhibition measurement
EFO:0004531	urate measurement

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
butyraldehyde	increases expression	1
pentanal	increases expression	1

Clinical trials (associated diseases)

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