DEFB108B

Summary

DEFB108B (defensin beta 108B, HGNC:29966) is a protein-coding gene on chromosome 11q13.4, encoding Beta-defensin 108B (Q8NET1). 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. A pseudogene of this gene has been found on chromosome 8.

Source: NCBI Gene 245911 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_001002035

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29966
Approved symbol	DEFB108B
Name	defensin beta 108B
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000184276
Ensembl biotype	protein_coding
Entrez	245911

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000328698, ENST00000529157

RefSeq mRNA: 1 — MANE Select: NM_001002035 NM_001002035

CCDS: CCDS31631

Canonical transcript exons

ENST00000328698 — 2 exons

Exon	Start	End
ENSE00001627532	71833200	71833257
ENSE00001792748	71837399	71837710

Expression profiles

Bgee: expression breadth broad, 95 present calls, max score 89.39.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.39	gold quality
corpus callosum	UBERON:0002336	57.61	gold quality
calcaneal tendon	UBERON:0003701	52.40	gold quality
adrenal tissue	UBERON:0018303	49.11	gold quality
right uterine tube	UBERON:0001302	48.69	gold quality
right hemisphere of cerebellum	UBERON:0014890	45.38	silver quality
colonic epithelium	UBERON:0000397	45.36	silver quality
endocervix	UBERON:0000458	45.11	gold quality
left ovary	UBERON:0002119	44.60	gold quality
ovary	UBERON:0000992	43.65	gold quality
metanephros cortex	UBERON:0010533	42.80	silver quality
mucosa of stomach	UBERON:0001199	42.77	silver quality
right ovary	UBERON:0002118	42.08	gold quality
cerebellar hemisphere	UBERON:0002245	41.93	silver quality
cerebellar cortex	UBERON:0002129	41.64	silver quality
cerebellum	UBERON:0002037	41.35	silver quality
tibial nerve	UBERON:0001323	39.46	gold quality
bone marrow cell	CL:0002092	38.82	gold quality
ganglionic eminence	UBERON:0004023	38.33	gold quality
fallopian tube	UBERON:0003889	38.31	gold quality
cortex of kidney	UBERON:0001225	38.04	gold quality
myometrium	UBERON:0001296	37.41	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	36.73	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
body of uterus	UBERON:0009853	36.36	silver quality
endometrium	UBERON:0001295	35.97	silver quality
lymph node	UBERON:0000029	35.96	gold quality
urinary bladder	UBERON:0001255	35.80	silver quality
monocyte	CL:0000576	35.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The encoded protein is thought to have antimicrobial activity. (PMID:12600824)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb22	ENSMUSG00000027468
rattus_norvegicus	Defb22	ENSRNOG00000007525

Paralogs (19): DEFB127 (ENSG00000088782), DEFB129 (ENSG00000125903), DEFB118 (ENSG00000131068), DEFB104A (ENSG00000176782), DEFB104B (ENSG00000177023), DEFB125 (ENSG00000178591), DEFB124 (ENSG00000180383), DEFB123 (ENSG00000180424), DEFB119 (ENSG00000180483), DEFB128 (ENSG00000185982), DEFB131A (ENSG00000186146), DEFB132 (ENSG00000186458), DEFB121 (ENSG00000204548), DEFB134 (ENSG00000205882), DEFB135 (ENSG00000205883), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB115 (ENSG00000215547), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 108B — Q8NET1 (reviewed: Q8NET1)

Alternative names: Beta-defensin 8, Defensin, beta 108, Defensin, beta 108B

All UniProt accessions (1): Q8NET1

UniProt curated annotations — full annotation on UniProt →

Function. Has antibacterial activity.

Subcellular location. Secreted.

Tissue specificity. Specifically expressed in testis. Low expression is detected also in liver.

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (1): NP_001002035* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain

Pfam: PF13841

UniProt features (11 total): sequence variant 4, disulfide bond 3, sequence conflict 2, signal peptide 1, peptide 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NET1-F1	69.15	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): 28–55, 35–49, 39–56

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 13 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, chr11q13, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, GOBP_RESPONSE_TO_BACTERIUM, REACTOME_ANTIMICROBIAL_PEPTIDES, ZNF22_TARGET_GENES, HAY_BONE_MARROW_PLATELET, 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 (1): protein binding (GO:0005515)

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
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

214 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB108B	DEFB106A	Q8N104	849
DEFB108B	DEFB105A	Q8NG35	815
DEFB108B	DEFB104A	Q8WTQ1	754
DEFB108B	DEFB107A	Q8IZN7	749
DEFB108B	DEFB103A	P81534	668
DEFB108B	DEFB1	P60022	632
DEFB108B	USP17L4	A6NCW7	594
DEFB108B	A0A0G2JN59	A0A0G2JN59	582
DEFB108B	USP17L7	P0C7H9	579
DEFB108B	FAM90A10	A6NDY2	577
DEFB108B	DEFB121	Q5J5C9	570
DEFB108B	DEFB123	Q8N688	528
DEFB108B	DEFB4A	O15263	519
DEFB108B	DEFB116	Q30KQ4	518
DEFB108B	DEFB118	Q96PH6	506

IntAct

10 interactions, top by confidence:

A	B	Type	Score
DEFB108B	GPR152	psi-mi:“MI:0915”(physical association)	0.560
DEFB108B	SLC13A4	psi-mi:“MI:0915”(physical association)	0.560
AQP6	DEFB108B	psi-mi:“MI:0915”(physical association)	0.560
DEFB108B	SLC13A4	psi-mi:“MI:0915”(physical association)	0.000
DEFB108B	AQP6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): DEFB108B (Two-hybrid), DEFB108B (Two-hybrid), DEFB108B (Two-hybrid)

ESM2 similar proteins: A0A7G6KN55, A4H200, A4H215, A4H216, A4H217, A4H218, A4H235, A4H236, A8MXU0, O18794, P0C8A7, P46156, P46157, P46158, P60022, P61261, P61262, P61263, P80392, P81534, Q0E4V3, Q0W9P9, Q30KK5, Q30KN4, Q30KP9, Q30KU3, Q32ZF8, Q32ZG2, Q32ZH8, Q32ZI4, Q5IAA9, Q5J5D0, Q5J5Z9, Q6QLR1, Q7JGL8, Q7JGL9, Q7JGM0, Q7JGM1, Q7JGM2, Q8IZN7

Diamond homologs: A8MXU0, Q30KL6, Q30KQ9, Q5IAA6, Q8NET1, A4H211, Q5IAB3, Q8N104

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

160 predictions. Top by Δscore:

Variant	Effect	Δscore
11:71833254:CCAGG:C	donor_loss	0.9300
11:71833255:CAG:C	donor_loss	0.9300
11:71833256:AG:A	donor_loss	0.9300
11:71833257:G:GT	donor_loss	0.9300
11:71833258:G:GG	donor_loss	0.9300
11:71837395:GTAGC:G	acceptor_gain	0.8900
11:71833269:AACTT:A	donor_gain	0.8800
11:71833258:GT:G	donor_gain	0.8600
11:71833259:T:A	donor_gain	0.8600
11:71833257:GGTAA:G	donor_gain	0.8500
11:71833270:ACTT:A	donor_gain	0.8500
11:71837394:TGTAG:T	acceptor_gain	0.8400
11:71837397:AGC:A	acceptor_gain	0.8300
11:71833255:CAGGT:C	donor_gain	0.8200
11:71833256:AGGTA:A	donor_gain	0.8200
11:71833260:A:C	donor_gain	0.8100
11:71837398:GCCA:G	acceptor_gain	0.8100
11:71837396:TAG:T	acceptor_gain	0.8000
11:71833254:CCAG:C	donor_gain	0.7900
11:71834125:A:G	donor_gain	0.7900
11:71837398:GCCAG:G	acceptor_gain	0.7600
11:71834494:T:G	acceptor_gain	0.7500
11:71833277:AAG:A	donor_gain	0.7200
11:71833278:AGA:A	donor_gain	0.7200
11:71833279:GAG:G	donor_gain	0.7200
11:71834124:AAT:A	donor_gain	0.7200
11:71834499:A:AG	acceptor_gain	0.7200
11:71833252:TACCA:T	donor_gain	0.6900
11:71833253:ACCAG:A	donor_gain	0.6600
11:71834503:A:AG	acceptor_gain	0.6600

AlphaMissense

485 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:71837485:T:A	C49S	0.888
11:71837486:G:C	C49S	0.888
11:71837443:T:A	C35S	0.878
11:71837444:G:C	C35S	0.878
11:71837423:G:A	C28Y	0.863
11:71837503:T:A	C55S	0.863
11:71837504:G:C	C55S	0.863
11:71837485:T:C	C49R	0.859
11:71837445:T:G	C35W	0.856
11:71837455:T:A	C39S	0.850
11:71837456:G:C	C39S	0.850
11:71837487:T:G	C49W	0.849
11:71837422:T:C	C28R	0.848
11:71837443:T:C	C35R	0.848
11:71837503:T:C	C55R	0.848
11:71837422:T:A	C28S	0.847
11:71837423:G:C	C28S	0.847
11:71837505:C:G	C55W	0.843
11:71837510:T:C	L57P	0.843
11:71837437:G:T	G33C	0.842
11:71837506:T:C	C56R	0.842
11:71837444:G:A	C35Y	0.838
11:71837506:T:A	C56S	0.834
11:71837507:G:C	C56S	0.834
11:71837455:T:C	C39R	0.831
11:71837508:C:G	C56W	0.825
11:71837457:C:G	C39W	0.822
11:71837468:A:T	E43V	0.821
11:71837423:G:T	C28F	0.814
11:71837438:G:A	G33D	0.807

dbSNP variants (sampled 300 via entrez): RS1000071359 (11:71831870 A>G), RS1001282811 (11:71836678 T>A), RS1001879450 (11:71835437 A>G,T), RS1001945727 (11:71834430 A>C,G), RS1002248466 (11:71835676 A>G), RS1002547040 (11:71833126 G>A,T), RS10047426 (11:71832284 A>T), RS1004878650 (11:71832117 C>A,T), RS1005026720 (11:71837043 C>T), RS1005363054 (11:71837309 T>C), RS1005689543 (11:71834871 A>G), RS1005959489 (11:71836240 A>G,T), RS1006446002 (11:71836083 C>A,T), RS1007106227 (11:71833767 T>A), RS1008208686 (11:71836372 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	increases reaction, affects binding	1
Resveratrol	affects cotreatment, decreases expression	1
Cadmium	decreases expression	1
Malathion	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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