DEFB112

Summary

DEFB112 (defensin beta 112, HGNC:18093) is a protein-coding gene on chromosome 6p12.3, encoding Beta-defensin 112 (Q30KQ8). 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 245915 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 17 total — 1 pathogenic
• MANE Select transcript: NM_001369057

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18093
Approved symbol	DEFB112
Name	defensin beta 112
Location	6p12.3
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-12
Ensembl gene	ENSG00000180872
Ensembl biotype	protein_coding
Entrez	245915

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000651554

RefSeq mRNA: 1 — MANE Select: NM_001369057 NM_001369057

CCDS: CCDS34476

Canonical transcript exons

ENST00000651554 — 2 exons

Exon	Start	End
ENSE00003844548	50049812	50049929
ENSE00003844680	50042099	50043801

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 85.14.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0220 / max 28.8849, expressed in 2 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73940	0.0220	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.14	gold quality
colonic epithelium	UBERON:0000397	43.29	gold quality
ganglionic eminence	UBERON:0004023	37.83	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
prefrontal cortex	UBERON:0000451	34.68	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
primary visual cortex	UBERON:0002436	30.37	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
frontal cortex	UBERON:0001870	28.75	silver quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
nucleus accumbens	UBERON:0001882	27.84	gold quality
lymph node	UBERON:0000029	27.57	gold quality
islet of Langerhans	UBERON:0000006	27.26	gold quality
leukocyte	CL:0000738	27.20	gold quality
monocyte	CL:0000576	27.16	gold quality
tonsil	UBERON:0002372	27.05	gold quality
superior frontal gyrus	UBERON:0002661	26.96	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.03	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
urinary bladder	UBERON:0001255	25.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.97

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

0 orthologs

Protein

Protein identifiers

Beta-defensin 112 — Q30KQ8 (reviewed: Q30KQ8)

Alternative names: Beta-defensin 12, Defensin, beta 112

All UniProt accessions (1): A0A494C1K0

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_001355986* (*=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-Q30KQ8-F1	61.89	0.09

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): 54–82, 61–75, 65–83

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

212 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB112	DEFB125	Q8N687	532
DEFB112	DEFB129	Q9H1M3	521
DEFB112	DEFB110	Q30KQ9	517
DEFB112	DEFB126	Q9BYW3	480
DEFB112	ST8SIA3	O43173	475
DEFB112	IFNE	Q86WN2	468
DEFB112	DEFB127	Q9H1M4	450
DEFB112	C16orf90	A8MZG2	434
DEFB112	DEFB121	Q5J5C9	434
DEFB112	WFDC11	Q8NEX6	434
DEFB112	DEFB116	Q30KQ4	426
DEFB112	ACCSL	Q4AC99	412
DEFB112	IQCF3	P0C7M6	402
DEFB112	SPANXN5	Q5MJ07	396
DEFB112	DMRTC2	Q8IXT2	384

IntAct

10 interactions, top by confidence:

A	B	Type	Score
HSF2BP	DEFB112	psi-mi:“MI:0915”(physical association)	0.560
	DEFB112	psi-mi:“MI:0915”(physical association)	0.560
VWC2L	DEFB112	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	DEFB112	psi-mi:“MI:0915”(physical association)	0.000
	DEFB112	psi-mi:“MI:0915”(physical association)	0.000
VWC2L	DEFB112	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): DEFB112 (Two-hybrid), DEFB112 (Two-hybrid), KRTAP10-1 (Two-hybrid)

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: Q30KL5, Q30KL6, Q30KP6, Q30KQ8, A8MXU0, Q30KQ9, Q30KU3, Q32ZH5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	16
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1455701	NC_000006.11:g.(?50011288)(50812180_?)del	Pathogenic

SpliceAI

329 predictions. Top by Δscore:

Variant	Effect	Δscore
6:50048525:A:AC	donor_gain	1.0000
6:50048526:T:C	donor_gain	0.9900
6:50043802:C:CC	acceptor_gain	0.9700
6:50048531:TTTTA:T	donor_loss	0.9700
6:50048532:TTTAC:T	donor_loss	0.9700
6:50048533:TTA:T	donor_loss	0.9700
6:50048534:TAC:T	donor_loss	0.9700
6:50048535:ACCTG:A	donor_loss	0.9700
6:50048536:CCT:C	donor_loss	0.9700
6:50043798:CTGG:C	acceptor_gain	0.9500
6:50045159:T:C	donor_gain	0.9200
6:50045162:AC:A	donor_gain	0.9100
6:50045163:CC:C	donor_gain	0.9100
6:50048537:C:G	donor_loss	0.9100
6:50048347:A:AT	donor_gain	0.9000
6:50045164:CC:C	donor_gain	0.8600
6:50043799:TGG:T	acceptor_gain	0.8400
6:50048343:CTACA:C	donor_gain	0.8300
6:50043802:CTG:C	acceptor_loss	0.8000
6:50043803:T:G	acceptor_loss	0.8000
6:50043804:G:C	acceptor_loss	0.8000
6:50043813:C:CT	acceptor_loss	0.7900
6:50043814:A:T	acceptor_loss	0.7900
6:50043800:GG:G	acceptor_gain	0.7800
6:50043828:T:TC	acceptor_loss	0.7700
6:50045296:C:CC	acceptor_gain	0.7700
6:50043827:ATT:A	acceptor_loss	0.7600
6:50045165:C:T	donor_gain	0.7600
6:50048535:A:AC	donor_gain	0.7600
6:50048536:C:CC	donor_gain	0.7600

AlphaMissense

621 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:50043672:C:G	C82S	0.964
6:50043673:A:T	C82S	0.964
6:50043723:C:G	C65S	0.957
6:50043724:A:T	C65S	0.957
6:50043669:C:G	C83S	0.952
6:50043670:A:T	C83S	0.952
6:50043735:C:G	C61S	0.951
6:50043736:A:T	C61S	0.951
6:50043693:C:G	C75S	0.949
6:50043694:A:T	C75S	0.949
6:50043756:C:G	C54S	0.945
6:50043757:A:T	C54S	0.945
6:50043671:G:C	C82W	0.938
6:50043756:C:T	C54Y	0.934
6:50043693:C:T	C75Y	0.931
6:50043657:C:G	C87S	0.928
6:50043658:A:T	C87S	0.928
6:50043672:C:T	C82Y	0.925
6:50043707:A:C	F70L	0.925
6:50043707:A:T	F70L	0.925
6:50043709:A:G	F70L	0.925
6:50043673:A:G	C82R	0.921
6:50043764:C:A	W51C	0.919
6:50043764:C:G	W51C	0.919
6:50043692:A:C	C75W	0.917
6:50043755:A:C	C54W	0.915
6:50043694:A:G	C75R	0.906
6:50043724:A:G	C65R	0.905
6:50043669:C:T	C83Y	0.904
6:50043668:G:C	C83W	0.900

dbSNP variants (sampled 300 via entrez): RS1000023875 (6:50047576 A>G), RS1001254820 (6:50042698 C>A), RS1001288742 (6:50051783 C>A), RS1001341186 (6:50051926 G>A,T), RS1001514027 (6:50045331 T>A), RS1001874618 (6:50050946 C>A,T), RS1001931446 (6:50044989 A>C), RS1002026164 (6:50045229 C>G,T), RS1003411582 (6:50048985 T>C), RS1003465710 (6:50049174 T>G), RS1003495035 (6:50049578 T>G), RS1003619528 (6:50043744 C>G,T), RS1003699411 (6:50044116 C>T), RS1003925789 (6:50048369 C>T), RS1003943153 (6:50042800 A>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

5 associations (top):

Study	Trait	p-value
GCST001585_5	Breast size	5.000000e-06
GCST002570_3	Overweight status	9.000000e-07
GCST002783_301	Body mass index	1.000000e-06
GCST002783_557	Body mass index	1.000000e-06
GCST004640_1	Western dietary pattern	4.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005935	overweight body mass index status
EFO:0004340	body mass index
EFO:0008111	diet 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.