DEFB136

Summary

DEFB136 (defensin beta 136, HGNC:34433) is a protein-coding gene on chromosome 8p23.1, encoding Defensin beta 136 (Q30KP8). Host defense peptide that exhibits antibacterial and antifungal 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 8p23.

Source: NCBI Gene 613210 — RefSeq curated summary.

At a glance

• GWAS associations: 36
• Clinical variants (ClinVar): 21 total
• MANE Select transcript: NM_001033018

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34433
Approved symbol	DEFB136
Name	defensin beta 136
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	DEFB137
Ensembl gene	ENSG00000205884
Ensembl biotype	protein_coding
Entrez	613210

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000382209

RefSeq mRNA: 1 — MANE Select: NM_001033018 NM_001033018

CCDS: CCDS43709

Canonical transcript exons

ENST00000382209 — 2 exons

Exon	Start	End
ENSE00001491224	11973937	11974118
ENSE00001491226	11974545	11974599

Expression profiles

Bgee: expression breadth broad, 75 present calls, max score 45.45.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0037 / max 6.2793, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87450	0.0037	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
superior frontal gyrus	UBERON:0002661	45.45	gold quality
right coronary artery	UBERON:0001625	37.41	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
prostate gland	UBERON:0002367	36.76	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	32.64	gold quality
leukocyte	CL:0000738	32.19	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
caudate nucleus	UBERON:0001873	32.09	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
urinary bladder	UBERON:0001255	30.72	gold quality
prefrontal cortex	UBERON:0000451	30.55	gold quality
frontal cortex	UBERON:0001870	30.46	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right frontal lobe	UBERON:0002810	29.86	gold quality
pituitary gland	UBERON:0000007	28.94	gold quality
liver	UBERON:0002107	28.68	silver quality
pancreas	UBERON:0001264	28.35	gold quality
duodenum	UBERON:0002114	28.14	gold quality
body of pancreas	UBERON:0001150	28.01	gold quality
cerebral cortex	UBERON:0000956	27.86	gold quality
lymph node	UBERON:0000029	27.57	gold quality
islet of Langerhans	UBERON:0000006	27.41	gold quality
tonsil	UBERON:0002372	27.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.33

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

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

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb42	ENSMUSG00000054763
rattus_norvegicus	Defb44	ENSRNOG00000038757

Protein

Protein identifiers

Defensin beta 136 — Q30KP8 (reviewed: Q30KP8)

Alternative names: Beta-defensin 136, DEFB137

All UniProt accessions (1): Q30KP8

UniProt curated annotations — full annotation on UniProt →

Function. Host defense peptide that exhibits antibacterial and antifungal activity. Exhibits antimicrobial activity against E.coli, S.aureus and C.albicans (in vitro). Has high lipopolysaccharide (LPS)-binding affinity, and may thereby be involved in immunoregulation through LPS neutralization.

Subcellular location. Secreted.

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (1): NP_001028190* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR035307	DEFB136/42	Family

Pfam: PF17333

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-Q30KP8-F1	82.09	0.40

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): 33–60, 40–54, 44–61

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 20 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, GOBP_DEFENSE_RESPONSE_TO_GRAM_POSITIVE_BACTERIUM, GOBP_RESPONSE_TO_FUNGUS, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_CELL_KILLING, GOMF_LIPOPOLYSACCHARIDE_BINDING, GOBP_RESPONSE_TO_BACTERIUM, GOMF_LIPID_BINDING, GOBP_ANTIFUNGAL_INNATE_IMMUNE_RESPONSE, FOSTER_KDM1A_TARGETS_UP, REACTOME_ANTIMICROBIAL_PEPTIDES, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, GOBP_ANTIBACTERIAL_INNATE_IMMUNE_RESPONSE

GO Biological Process (8): killing of cells of another organism (GO:0031640), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), antifungal innate immune response (GO:0061760), antibacterial innate immune response (GO:0140367), defense response (GO:0006952), defense response to bacterium (GO:0042742), defense response to fungus (GO:0050832)

GO Molecular Function (1): lipopolysaccharide binding (GO:0001530)

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 to bacterium	3
innate immune response	2
defense response	2
cell killing	1
disruption of cell in another organism	1
defense response to fungus	1
response to stress	1
response to bacterium	1
response to fungus	1
lipid binding	1
carbohydrate derivative binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

101 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB136	TNKS	O95271	353
DEFB136	IARS1	P41252	353
DEFB136	DEFB135	Q30KP9	353
DEFB136	DEFB130A	P0DP74	353
DEFB136	DEFB134	Q4QY38	353
DEFB136	XKR6	Q5GH73	353
DEFB136	DEFB110	Q30KQ9	287
DEFB136	A0A0G2JN59	A0A0G2JN59	286
DEFB136	IARS2	Q9NSE4	245
DEFB136	DEFB128	Q7Z7B8	238
DEFB136	DEFB124	Q8NES8	217
DEFB136	XKR7	Q5GH72	203
DEFB136	DEFB113	Q30KQ7	199
DEFB136	DEFB126	Q9BYW3	197
DEFB136	DEFB118	Q96PH6	177

IntAct

2 interactions, top by confidence:

A	B	Type	Score
DEFB136	MANBA	psi-mi:“MI:0914”(association)	0.350

BioGRID (43): NACC1 (Affinity Capture-MS), WAPAL (Affinity Capture-MS), CASK (Affinity Capture-MS), GARS (Affinity Capture-MS), LOXL2 (Affinity Capture-MS), FKBP14 (Affinity Capture-MS), ALDH6A1 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), SEPN1 (Affinity Capture-MS), ITGA8 (Affinity Capture-MS), RNF166 (Affinity Capture-MS), MPP6 (Affinity Capture-MS), SNX1 (Affinity Capture-MS), LRP1B (Affinity Capture-MS), STK39 (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: Q30KJ3, Q30KP8, Q8BVB5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

109 predictions. Top by Δscore:

Variant	Effect	Δscore
8:11974136:C:CT	acceptor_gain	0.9700
8:11974543:ACC:A	donor_loss	0.9600
8:11974543:A:AC	donor_gain	0.8500
8:11974544:C:CC	donor_gain	0.8500
8:11974542:TAC:T	donor_gain	0.7500
8:11974125:C:CT	acceptor_gain	0.7300
8:11974541:TTA:T	donor_gain	0.7300
8:11974138:C:CT	acceptor_gain	0.7200
8:11974559:A:AC	donor_gain	0.7000
8:11974116:TTCC:T	acceptor_loss	0.6900
8:11974119:C:T	acceptor_loss	0.6900
8:11974120:T:A	acceptor_loss	0.6900
8:11974248:G:C	donor_gain	0.6800
8:11974543:A:AT	donor_gain	0.6800
8:11974139:A:T	acceptor_gain	0.6700
8:11974539:TCTTA:T	donor_gain	0.6600
8:11974540:CTTAC:C	donor_gain	0.6600
8:11974115:TTTCC:T	acceptor_gain	0.6500
8:11974116:TTCCT:T	acceptor_gain	0.6500
8:11974544:C:CG	donor_gain	0.6300
8:11974121:G:C	acceptor_loss	0.6100
8:11974117:TCCT:T	acceptor_gain	0.6000
8:11974126:G:T	acceptor_gain	0.5900
8:11974116:TTC:T	acceptor_gain	0.5700
8:11974136:C:T	acceptor_gain	0.5500
8:11974118:CCTGA:C	acceptor_gain	0.5300
8:11974119:C:CC	acceptor_gain	0.5200
8:11974231:CCT:C	donor_gain	0.5100
8:11974115:TTTC:T	acceptor_gain	0.5000
8:11974135:C:CT	acceptor_loss	0.5000

AlphaMissense

511 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:11974024:C:A	W50C	0.989
8:11974024:C:G	W50C	0.989
8:11974015:G:C	F53L	0.986
8:11974015:G:T	F53L	0.986
8:11974017:A:G	F53L	0.986
8:11974013:C:T	C54Y	0.983
8:11974026:A:G	W50R	0.982
8:11974026:A:T	W50R	0.982
8:11974055:C:G	C40S	0.982
8:11974056:A:T	C40S	0.982
8:11974051:G:C	F41L	0.980
8:11974051:G:T	F41L	0.980
8:11974053:A:G	F41L	0.980
8:11974056:A:G	C40R	0.980
8:11974076:C:G	C33S	0.979
8:11974077:A:T	C33S	0.979
8:11974012:G:C	C54W	0.978
8:11974054:A:C	C40W	0.978
8:11974013:C:G	C54S	0.977
8:11974014:A:T	C54S	0.977
8:11974076:C:T	C33Y	0.977
8:11973992:C:G	C61S	0.976
8:11973993:A:T	C61S	0.976
8:11974043:C:G	C44S	0.976
8:11974044:A:T	C44S	0.976
8:11974055:C:T	C40Y	0.976
8:11973992:C:T	C61Y	0.975
8:11974014:A:G	C54R	0.971
8:11974044:A:G	C44R	0.971
8:11974075:G:C	C33W	0.970

dbSNP variants (sampled 300 via entrez): RS1000058551 (8:11973694 G>A), RS1001306308 (8:11975043 C>T), RS1002137246 (8:11974837 G>A), RS1002650140 (8:11976301 G>T), RS1002714706 (8:11975881 G>A), RS1002735133 (8:11975686 GT>G,GTT), RS1003499619 (8:11973516 C>G), RS1004568974 (8:11976061 C>G), RS1006713485 (8:11975281 G>C), RS1007303493 (8:11976153 C>T), RS1007661979 (8:11976485 A>G), RS1008458800 (8:11975518 G>T), RS1008635406 (8:11974290 G>T), RS1009319954 (8:11974759 G>A,C), RS1009370907 (8:11974591 G>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

36 associations (top):

Study	Trait	p-value
GCST004625_106	Monocyte count	3.000000e-09
GCST007326_82	Number of sexual partners	5.000000e-08
GCST007430_43	Peak expiratory flow	3.000000e-06
GCST007431_7	Lung function (FEV1/FVC)	5.000000e-14
GCST007432_83	FEV1	3.000000e-11
GCST007932_40	Medication use (thyroid preparations)	3.000000e-14
GCST009363_48	Triglyceride levels x short total sleep time interaction (2df test)	4.000000e-09
GCST009364_30	Triglyceride levels x long total sleep time interaction (2df test)	3.000000e-06
GCST009370_1	Triglyceride levels	8.000000e-07
GCST010002_269	Refractive error	1.000000e-24
GCST010142_4	Fish- and plant-related diet	2.000000e-12
GCST010142_6	Fish- and plant-related diet	3.000000e-12
GCST010142_63	Fish- and plant-related diet	2.000000e-12
GCST010142_67	Fish- and plant-related diet	1.000000e-10
GCST010142_70	Fish- and plant-related diet	8.000000e-10
GCST010142_89	Fish- and plant-related diet	4.000000e-16
GCST010142_90	Fish- and plant-related diet	7.000000e-15
GCST010703_306	Brain morphology (MOSTest)	5.000000e-26
GCST010796_80	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-21
GCST010796_81	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_82	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-17
GCST010796_83	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-20
GCST010796_84	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-18
GCST010796_85	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-15
GCST010796_86	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-12
GCST010796_87	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-13
GCST010796_88	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-12
GCST010796_89	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-12
GCST010796_90	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-15
GCST010796_91	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-14

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0005091	monocyte count
EFO:0009718	peak expiratory flow
EFO:0004713	FEV/FVC ratio
EFO:0004314	forced expiratory volume
EFO:0009933	Thyroid preparation use measurement
EFO:0004530	triglyceride measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0004327	electrocardiography
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression, increases expression	1
Vehicle Emissions	decreases methylation	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression, increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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