DEFB113

Summary

DEFB113 (defensin beta 113, HGNC:18094) is a protein-coding gene on chromosome 6p12.3, encoding Beta-defensin 113 (Q30KQ7). Has antibacterial activity.

Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions.

Source: NCBI Gene 245927 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 16 total
• MANE Select transcript: NM_001037729

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18094
Approved symbol	DEFB113
Name	defensin beta 113
Location	6p12.3
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-13
Ensembl gene	ENSG00000214642
Ensembl biotype	protein_coding
Entrez	245927

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000398718

RefSeq mRNA: 1 — MANE Select: NM_001037729 NM_001037729

CCDS: CCDS43472

Canonical transcript exons

ENST00000398718 — 2 exons

Exon	Start	End
ENSE00001534529	49968677	49968867
ENSE00001534531	49969568	49969625

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 37.20.

Top tissues by expression

111 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
monocyte	CL:0000576	27.74	gold quality
leukocyte	CL:0000738	27.73	gold 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
blood	UBERON:0000178	25.82	silver quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.74	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
pancreas	UBERON:0001264	23.89	gold quality
endometrium	UBERON:0001295	23.55	gold quality
gastrocnemius	UBERON:0001388	23.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.42

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The encoded protein is thought to display antimicrobial activity. (PMID:16033865)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb18	ENSMUSG00000073735
rattus_norvegicus	Defb18	ENSRNOG00000039650

Protein

Protein identifiers

Beta-defensin 113 — Q30KQ7 (reviewed: Q30KQ7)

Alternative names: Beta-defensin 13, Defensin, beta 113

All UniProt accessions (1): Q30KQ7

UniProt curated annotations — full annotation on UniProt →

Function. Has antibacterial activity.

Subcellular location. Secreted.

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (1): NP_001032818* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain

Pfam: PF13841

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-Q30KQ7-F1	75.43	0.16

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): 35–61, 42–56, 46–62

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 9 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, chr6p12, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_RESPONSE_TO_BACTERIUM, REACTOME_ANTIMICROBIAL_PEPTIDES, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, REACTOME_DEFENSINS, REACTOME_BETA_DEFENSINS

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

GO Molecular Function (0):

GO Cellular Component (1): 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
cellular anatomical structure	1

Protein interactions and networks

STRING

250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB113	DEFB110	Q30KQ9	727
DEFB113	DEFB121	Q5J5C9	626
DEFB113	DEFB126	Q9BYW3	580
DEFB113	USP17L23	D6RBM5	577
DEFB113	DEFB127	Q9H1M4	546
DEFB113	DEFB129	Q9H1M3	531
DEFB113	A0A0G2JN59	A0A0G2JN59	531
DEFB113	SPAG11A	Q6PDA7	512
DEFB113	DEFB124	Q8NES8	509
DEFB113	DEFB106A	Q8N104	507
DEFB113	DEFB107A	Q8IZN7	480
DEFB113	OR5H14	A6NHG9	475
DEFB113	DEFB115	Q30KQ5	470
DEFB113	DEFB128	Q7Z7B8	455
DEFB113	PGLYRP3	Q96LB9	421

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: Q30KL4, Q30KP5, Q30KQ7, Q32ZH4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

88 predictions. Top by Δscore:

Variant	Effect	Δscore
6:49969562:TATTA:T	donor_loss	0.9400
6:49969563:ATTAC:A	donor_loss	0.9400
6:49969564:TTA:T	donor_loss	0.9400
6:49969565:TACC:T	donor_loss	0.9400
6:49969566:ACCTG:A	donor_loss	0.9400
6:49969567:CCTGA:C	donor_loss	0.9400
6:49968868:C:CC	acceptor_gain	0.9200
6:49968867:AC:A	acceptor_loss	0.9100
6:49968868:C:CA	acceptor_loss	0.9100
6:49968869:T:C	acceptor_loss	0.9100
6:49968866:AA:A	acceptor_gain	0.8800
6:49969568:C:A	donor_loss	0.8300
6:49968911:T:TG	acceptor_gain	0.7200
6:49968865:GAA:G	acceptor_gain	0.7100
6:49968863:TGGAA:T	acceptor_gain	0.6700
6:49968864:GGAA:G	acceptor_gain	0.6600
6:49969561:ATATT:A	donor_loss	0.6600
6:49968877:AGTAG:A	acceptor_gain	0.6300
6:49968866:AAC:A	acceptor_gain	0.6000
6:49968867:ACT:A	acceptor_gain	0.6000
6:49968868:CTA:C	acceptor_gain	0.6000
6:49968869:T:A	acceptor_gain	0.5900
6:49968865:GAACT:G	acceptor_gain	0.5800
6:49968861:TGTGG:T	acceptor_loss	0.5700
6:49968860:C:CC	acceptor_gain	0.5600
6:49968878:GTAG:G	acceptor_gain	0.5600
6:49968864:GGAAC:G	acceptor_gain	0.5200
6:49968862:GTGGA:G	acceptor_loss	0.5000
6:49968860:C:T	acceptor_loss	0.4900
6:49969566:A:AC	donor_gain	0.4700

AlphaMissense

537 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:49968779:C:A	W49C	0.798
6:49968779:C:G	W49C	0.798
6:49968789:C:G	C46S	0.753
6:49968790:A:T	C46S	0.753
6:49968797:C:A	K43N	0.715
6:49968797:C:G	K43N	0.715
6:49968790:A:G	C46R	0.698
6:49968743:G:C	C61W	0.688
6:49968808:C:A	G40C	0.676
6:49969596:A:C	F10L	0.675
6:49969596:A:T	F10L	0.675
6:49969598:A:G	F10L	0.675
6:49968788:G:C	C46W	0.671
6:49968740:A:C	C62W	0.670
6:49968801:C:G	C42S	0.666
6:49968802:A:T	C42S	0.666
6:49968741:C:G	C62S	0.660
6:49968742:A:T	C62S	0.660
6:49968822:C:G	C35S	0.658
6:49968823:A:T	C35S	0.658
6:49969594:A:T	V11D	0.654
6:49968776:T:A	E50D	0.647
6:49968776:T:G	E50D	0.647
6:49968802:A:G	C42R	0.639
6:49968777:T:A	E50V	0.622
6:49968821:A:C	C35W	0.613
6:49968800:G:C	C42W	0.611
6:49968813:A:T	V38D	0.601
6:49968742:A:G	C62R	0.597
6:49969605:A:C	F7L	0.586

dbSNP variants (sampled 300 via entrez): RS1001878264 (6:49970879 A>G), RS1001992923 (6:49971141 C>T), RS1003996471 (6:49969431 A>G), RS1004054350 (6:49968234 T>G), RS1004123928 (6:49969814 G>A,T), RS1006447151 (6:49971200 G>T), RS1006782493 (6:49969947 A>T), RS1007566263 (6:49970147 G>T), RS1007625845 (6:49968690 A>C), RS1008001289 (6:49969912 G>A), RS1008031300 (6:49970153 G>A,T), RS1008455631 (6:49968319 C>T), RS1010595470 (6:49968529 C>A), RS1012271433 (6:49969780 G>A,T), RS1012601442 (6:49971117 A>T)

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)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects methylation	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Catechin	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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