DEFB110

Summary

DEFB110 (defensin beta 110, HGNC:18091) is a protein-coding gene on chromosome 6p12.3, encoding Beta-defensin 110 (Q30KQ9). 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. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 245913 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_001037497

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18091
Approved symbol	DEFB110
Name	defensin beta 110
Location	6p12.3
Locus type	gene with protein product
Status	Approved
Aliases	DEFB-10, DEFB-11, DEFB111
Ensembl gene	ENSG00000203970
Ensembl biotype	protein_coding
Entrez	245913

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000371148, ENST00000393660

RefSeq mRNA: 2 — MANE Select: NM_001037497 NM_001037497, NM_001037728

CCDS: CCDS34475, CCDS43473

Canonical transcript exons

ENST00000371148 — 2 exons

Exon	Start	End
ENSE00001454462	50018843	50019125
ENSE00001454463	50021881	50021994

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 92.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0233 / max 40.6063, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73939	0.0233	1

Top tissues by expression

118 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	92.91	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.16	gold 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
monocyte	CL:0000576	32.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
leukocyte	CL:0000738	31.79	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
urinary bladder	UBERON:0001255	28.73	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
calcaneal tendon	UBERON:0003701	27.22	silver 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
primary visual cortex	UBERON:0002436	24.61	gold quality
ectocervix	UBERON:0012249	24.31	gold quality
pancreas	UBERON:0001264	24.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• The encoded protein is thought to have antimicrobial activity. (PMID:16033865)
• Antimicrobial activity and structure of a consensus human beta-defensin and its comparison to a novel putative hBD10. (PMID:31325337)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb41	ENSMUSG00000067773
rattus_norvegicus	Defb17	ENSRNOG00000079073

Protein

Protein identifiers

Beta-defensin 110 — Q30KQ9 (reviewed: Q30KQ9)

Alternative names: Beta-defensin 10, Beta-defensin 11, Beta-defensin 111, Defensin, beta 110, Defensin, beta 111

All UniProt accessions (1): Q30KQ9

UniProt curated annotations — full annotation on UniProt →

Function. Has antibacterial activity.

Subcellular location. Secreted.

Similarity. Belongs to the beta-defensin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q30KQ9-1	1	yes
Q30KQ9-2	2

RefSeq proteins (2): NP_001032586, NP_001032817 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain

Pfam: PF13841

UniProt features (6 total): disulfide bond 3, signal peptide 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q30KQ9-F1	80.43	0.22

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): 35–63, 42–56, 46–64

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 32 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_CELL_CHEMOTAXIS, GOBP_TAXIS, chr6p12, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_POSITIVE_CHEMOTAXIS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, GOMF_CHEMOATTRACTANT_ACTIVITY, GOMF_CCR_CHEMOKINE_RECEPTOR_BINDING, GOBP_RESPONSE_TO_BACTERIUM, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY

GO Biological Process (5): defense response to bacterium (GO:0042742), innate immune response (GO:0045087), cell chemotaxis (GO:0060326), defense response (GO:0006952), positive chemotaxis (GO:0050918)

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
chemotaxis	2
defense response	1
response to bacterium	1
immune response	1
defense response to symbiont	1
cell migration	1
cellular response to chemical stimulus	1
response to stress	1
CCR chemokine receptor binding	1
receptor ligand activity	1
positive chemotaxis	1
cellular anatomical structure	1

Protein interactions and networks

STRING

258 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB110	DEFB113	Q30KQ7	727
DEFB110	DEFB107A	Q8IZN7	697
DEFB110	DEFB127	Q9H1M4	648
DEFB110	DEFB115	Q30KQ5	574
DEFB110	DEFB105A	Q8NG35	570
DEFB110	DEFB129	Q9H1M3	540
DEFB110	DEFB114	Q30KQ6	518
DEFB110	DEFB112	Q30KQ8	517
DEFB110	DEFB134	Q4QY38	514
DEFB110	DEFB126	Q9BYW3	506
DEFB110	DEFB132	Q7Z7B7	504
DEFB110	DEFB106A	Q8N104	479
DEFB110	DEFB128	Q7Z7B8	477
DEFB110	DEFB103A	P81534	472
DEFB110	DEFB131A	P59861	471

IntAct

2 interactions, top by confidence:

A	B	Type	Score
DEFB110	NME2P1	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): TMEM67 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ADAM11 (Affinity Capture-MS), LRP11 (Affinity Capture-MS), CTBS (Affinity Capture-MS), FUT11 (Affinity Capture-MS), NME2P1 (Affinity Capture-MS), UBR2 (Affinity Capture-MS), PICK1 (Affinity Capture-MS), CACNA2D2 (Affinity Capture-MS), HLA-DQA1 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), GRN (Affinity Capture-MS), CAMKMT (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: A8MXU0, Q30KL6, Q30KQ9, Q5IAA6, Q8NET1, Q30KL5, Q30KP6, Q30KQ8, Q30KU3, Q32ZH5, A4H213, Q30KJ6, Q30KP5, Q30KQ1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

124 predictions. Top by Δscore:

Variant	Effect	Δscore
6:50019126:C:CC	acceptor_gain	0.9100
6:50019123:TGGC:T	acceptor_loss	0.8700
6:50019125:GCTG:G	acceptor_loss	0.8700
6:50019126:C:CA	acceptor_loss	0.8700
6:50019127:T:TC	acceptor_loss	0.8700
6:50021875:TATTA:T	donor_loss	0.8500
6:50021876:ATTAC:A	donor_loss	0.8500
6:50021877:TTACC:T	donor_loss	0.8500
6:50021878:TACCT:T	donor_loss	0.8500
6:50021879:A:C	donor_loss	0.8500
6:50021880:C:G	donor_loss	0.8500
6:50019122:TTGG:T	acceptor_gain	0.8400
6:50019123:TGG:T	acceptor_gain	0.8400
6:50019121:TTTGG:T	acceptor_gain	0.8300
6:50020529:T:TA	donor_gain	0.8100
6:50019124:GG:G	acceptor_gain	0.8000
6:50021881:C:A	donor_loss	0.7900
6:50021874:ATATT:A	donor_loss	0.7600
6:50019151:ATTAG:A	acceptor_loss	0.7200
6:50019142:A:C	acceptor_loss	0.7000
6:50019149:AAATT:A	acceptor_loss	0.7000
6:50019150:AATTA:A	acceptor_loss	0.7000
6:50019152:T:TC	acceptor_loss	0.7000
6:50018980:CTG:C	acceptor_gain	0.6900
6:50019148:AAAAT:A	acceptor_loss	0.6500
6:50019153:TAG:T	acceptor_loss	0.6200
6:50019154:A:T	acceptor_loss	0.5500
6:50019102:C:CT	acceptor_loss	0.5200
6:50019131:A:C	acceptor_loss	0.5000
6:50018989:G:GA	acceptor_gain	0.4600

AlphaMissense

447 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:50019056:C:G	C42S	0.949
6:50019057:A:T	C42S	0.949
6:50019077:C:G	C35S	0.949
6:50019078:A:T	C35S	0.949
6:50019013:G:C	C56W	0.930
6:50019044:C:G	C46S	0.928
6:50019045:A:T	C46S	0.928
6:50018992:G:C	C63W	0.920
6:50018989:G:C	C64W	0.919
6:50018993:C:G	C63S	0.918
6:50018994:A:T	C63S	0.918
6:50019014:C:G	C56S	0.916
6:50019015:A:T	C56S	0.916
6:50019076:G:C	C35W	0.915
6:50018990:C:G	C64S	0.912
6:50018991:A:T	C64S	0.912
6:50019014:C:T	C56Y	0.906
6:50019045:A:G	C46R	0.897
6:50019055:A:C	C42W	0.897
6:50019057:A:G	C42R	0.896
6:50019078:A:G	C35R	0.896
6:50019015:A:G	C56R	0.894
6:50019043:A:C	C46W	0.887
6:50019062:C:T	G40D	0.880
6:50019077:C:T	C35Y	0.880
6:50019063:C:A	G40C	0.878
6:50018994:A:G	C63R	0.872
6:50019014:C:A	C56F	0.872
6:50019077:C:A	C35F	0.866
6:50019056:C:T	C42Y	0.865

dbSNP variants (sampled 300 via entrez): RS1000331450 (6:50022509 T>C,G), RS1000434797 (6:50011819 G>T), RS1000811934 (6:50023575 T>C), RS1000843558 (6:50019610 T>C), RS1001073302 (6:50021005 T>C), RS1001129517 (6:50020492 T>C), RS1001181618 (6:50020858 GTTA>G), RS1001353343 (6:50014050 T>C), RS1001484713 (6:50010132 T>C), RS1001516800 (6:50015962 G>T), RS1001822509 (6:50014827 C>T), RS1001853577 (6:50014398 A>C), RS1001923717 (6:50009000 A>C,G), RS1002340929 (6:50019787 C>A,T), RS1002439941 (6:50009253 G>A,C,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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
coumarin	increases phosphorylation	1

Clinical trials (associated diseases)

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