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DEFB135

gene
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Summary

DEFB135 (defensin beta 135, HGNC:32400) is a protein-coding gene on chromosome 8p23.1, encoding Beta-defensin 135 (Q30KP9). Has antibacterial 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 613209 — RefSeq curated summary.

At a glance

  • GWAS associations: 21
  • Clinical variants (ClinVar): 31 total — 1 pathogenic
  • MANE Select transcript: NM_001033017

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:32400
Approved symbolDEFB135
Namedefensin beta 135
Location8p23.1
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000205883
Ensembl biotypeprotein_coding
Entrez613209

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000382208

RefSeq mRNA: 1 — MANE Select: NM_001033017 NM_001033017

CCDS: CCDS43710

Canonical transcript exons

ENST00000382208 — 2 exons

ExonStartEnd
ENSE000014912211198442111984590
ENSE000014912221198225611982384

Expression profiles

Bgee: expression breadth broad, 81 present calls, max score 94.42.

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

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
874500.00371

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047394.42silver quality
granulocyteCL:000009453.37gold quality
bone marrow cellCL:000209240.41gold quality
ganglionic eminenceUBERON:000402339.09gold quality
colonic epitheliumUBERON:000039737.20gold quality
ventricular zoneUBERON:000305336.48gold quality
cortical plateUBERON:000534336.47gold quality
corpus callosumUBERON:000233635.69silver quality
smooth muscle tissueUBERON:000113534.35gold quality
bone marrowUBERON:000237133.91gold quality
muscle tissueUBERON:000238533.62gold quality
skeletal muscle tissueUBERON:000113433.38gold quality
hindlimb stylopod muscleUBERON:000425232.15gold quality
urinary bladderUBERON:000125531.05gold quality
sural nerveUBERON:001548830.93gold quality
prefrontal cortexUBERON:000045130.44gold quality
stromal cell of endometriumCL:000225529.87gold quality
prostate glandUBERON:000236729.00gold quality
frontal cortexUBERON:000187028.74gold quality
left testisUBERON:000453328.66gold quality
temporal lobeUBERON:000187128.65gold quality
amygdalaUBERON:000187628.60gold quality
leukocyteCL:000073828.57gold quality
testisUBERON:000047328.27gold quality
duodenumUBERON:000211428.14gold quality
liverUBERON:000210728.04gold quality
right atrium auricular regionUBERON:000663127.58gold quality
lymph nodeUBERON:000002927.57gold quality
pancreasUBERON:000126427.44gold quality
monocyteCL:000057627.42gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.16

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

OrganismSymbolGene ID
mus_musculusDefb30ENSMUSG00000075571
rattus_norvegicusDefb30ENSRNOG00000038758

Paralogs (19): DEFB127 (ENSG00000088782), DEFB129 (ENSG00000125903), DEFB118 (ENSG00000131068), DEFB104A (ENSG00000176782), DEFB104B (ENSG00000177023), DEFB125 (ENSG00000178591), DEFB124 (ENSG00000180383), DEFB123 (ENSG00000180424), DEFB119 (ENSG00000180483), DEFB108B (ENSG00000184276), DEFB128 (ENSG00000185982), DEFB131A (ENSG00000186146), DEFB132 (ENSG00000186458), DEFB121 (ENSG00000204548), DEFB134 (ENSG00000205882), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB115 (ENSG00000215547), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 135 — Q30KP9 (reviewed: Q30KP9)

Alternative names: Defensin, beta 135

All UniProt accessions (1): Q30KP9

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_001028189* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR025933Beta_defensin_domDomain
IPR050544Beta-defensinFamily

Pfam: PF13841

UniProt features (5 total): disulfide bond 3, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q30KP9-F186.040.54

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): 37–64, 44–58, 48–65

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-1461957Beta defensins
R-HSA-1461973Defensins

MSigDB gene sets: 17 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_CELL_KILLING, GOBP_RESPONSE_TO_BACTERIUM, FOSTER_KDM1A_TARGETS_UP, REACTOME_ANTIMICROBIAL_PEPTIDES, SUPT16H_TARGET_GENES, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, GOBP_DISRUPTION_OF_ANATOMICAL_STRUCTURE_IN_ANOTHER_ORGANISM, WP_8P231_COPY_NUMBER_VARIATION_SYNDROME, GOMF_MEMBRANE_DESTABILIZING_ACTIVITY, REACTOME_DEFENSINS, REACTOME_BETA_DEFENSINS

GO Biological Process (4): innate immune response (GO:0045087), defense response to Gram-negative bacterium (GO:0050829), defense response (GO:0006952), defense response to bacterium (GO:0042742)

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Defensins1
Antimicrobial peptides1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
immune response1
defense response to symbiont1
defense response to bacterium1
response to stress1
defense response1
response to bacterium1
cellular anatomical structure1

Protein interactions and networks

STRING

147 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DEFB135DEFB134Q4QY38822
DEFB135DEFB124Q8NES8801
DEFB135DEFB128Q7Z7B8769
DEFB135DEFB125Q8N687768
DEFB135DEFB127Q9H1M4672
DEFB135ZNF705DP0CH99654
DEFB135DEFB114Q30KQ6645
DEFB135FAM86B1Q8N7N1577
DEFB135DEFB121Q5J5C9571
DEFB135C16orf95Q9H693506
DEFB135DEFB130AP0DP74491
DEFB135DEFB118Q96PH6400
DEFB135FAM86B2P0C5J1373
DEFB135DEFB129Q9H1M3369
DEFB135IARS1P41252359

IntAct

2 interactions, top by confidence:

ABTypeScore
DEFB135MANBApsi-mi:“MI:0914”(association)0.350

BioGRID (41): CACNA2D1 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), CHRNA5 (Affinity Capture-MS), ATRN (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), VWDE (Affinity Capture-MS), SP3 (Affinity Capture-MS), CD109 (Affinity Capture-MS), SEMA4F (Affinity Capture-MS), TMEM67 (Affinity Capture-MS), CTBS (Affinity Capture-MS), GPR98 (Affinity Capture-MS), MANBA (Affinity Capture-MS), TCTN2 (Affinity Capture-MS)

ESM2 similar proteins: A2A5H7, A4H202, A4H203, A4H204, A4H225, A4H226, A4H227, A4H228, A4H253, A4H254, A4H255, P50704, P50705, P50707, P50708, P50713, P50714, Q30KJ3, Q30KJ7, Q30KK8, Q30KN4, Q30KP9, Q30KT5, Q32P86, Q32ZF7, Q32ZG2, Q32ZG3, Q32ZH2, Q32ZH6, Q3UW41, Q5DQQ6, Q5G865, Q5G866, Q5IAB9, Q5J602, Q6IE40, Q6IE41, Q6IV18, Q7Z7B8, Q8IUB3

Diamond homologs: Q30KJ4, Q30KN4, Q30KP9, Q32ZG2, Q5J5Z9, Q30KK4, Q30KN8, Q32P86, Q32ZG7, Q8NES8, A4H220, A4H221, A4H222, A4H223, A4H225, A4H226, A4H227, A4H228, A4H235, A4H236, Q30KK5, Q30KK6, Q30KK9, Q5J5C9, Q5J5D0, Q5J600, Q5J602, Q8K3I8, Q8N688, Q8N690, Q95LI0, Q96PH6, A4H213, A4H211, A4H212, A4H253, A4H254, A4H255, Q30KL1, Q30KQ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance28
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
563538GRCh37/hg19 8p23.1(chr8:8093169-11935465)x1Pathogenic

SpliceAI

138 predictions. Top by Δscore:

VariantEffectΔscore
8:11984416:GGCA:Gacceptor_loss0.9900
8:11984417:GCAG:Gacceptor_loss0.9900
8:11984418:CAG:Cacceptor_loss0.9900
8:11984420:GGTA:Gacceptor_gain0.9900
8:11984415:T:Aacceptor_gain0.9700
8:11984419:A:AGacceptor_gain0.9700
8:11984420:G:GGacceptor_gain0.9700
8:11984416:G:Aacceptor_gain0.9500
8:11984420:GGT:Gacceptor_gain0.9300
8:11982380:ACCAG:Adonor_loss0.9200
8:11982381:CCAG:Cdonor_loss0.9200
8:11982382:CAG:Cdonor_loss0.9200
8:11982383:AG:Adonor_loss0.9200
8:11982384:GGT:Gdonor_loss0.9200
8:11982385:GT:Gdonor_loss0.9200
8:11982386:T:Gdonor_loss0.9200
8:11982570:G:GTdonor_gain0.8800
8:11982387:A:Cdonor_loss0.7600
8:11984419:AG:Aacceptor_gain0.7500
8:11984420:GG:Gacceptor_gain0.7500
8:11982353:G:GAdonor_gain0.7400
8:11982500:A:Tdonor_gain0.6900
8:11982569:GGAG:Gdonor_gain0.6700
8:11982392:G:GTdonor_gain0.6600
8:11984424:G:GAacceptor_gain0.6500
8:11982598:GT:Gdonor_gain0.6300
8:11982599:TT:Tdonor_gain0.6300
8:11982601:A:AGdonor_gain0.6200
8:11984423:A:AGacceptor_gain0.6100
8:11982625:TG:Tdonor_gain0.5700

AlphaMissense

487 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:11984470:G:CW38C0.947
8:11984470:G:TW38C0.947
8:11984480:G:TG42C0.943
8:11984528:T:AC58S0.915
8:11984529:G:CC58S0.915
8:11984546:T:AC64S0.894
8:11984547:G:CC64S0.894
8:11984529:G:AC58Y0.893
8:11984498:T:AC48S0.884
8:11984499:G:CC48S0.884
8:11984466:G:AC37Y0.883
8:11984549:T:AC65S0.880
8:11984550:G:CC65S0.880
8:11984548:C:GC64W0.877
8:11984498:T:CC48R0.876
8:11984465:T:AC37S0.874
8:11984466:G:CC37S0.874
8:11984547:G:AC64Y0.871
8:11984467:T:GC37W0.866
8:11984456:T:CF34L0.862
8:11984458:T:AF34L0.862
8:11984458:T:GF34L0.862
8:11984530:T:GC58W0.861
8:11984480:G:CG42R0.858
8:11984528:T:CC58R0.858
8:11984550:G:AC65Y0.855
8:11984486:T:AC44S0.850
8:11984487:G:AC44Y0.850
8:11984487:G:CC44S0.850
8:11984529:G:TC58F0.850

dbSNP variants (sampled 300 via entrez): RS1000659324 (8:11982467 A>T), RS1001011821 (8:11982693 T>C), RS1001315518 (8:11982935 A>T), RS1002066852 (8:11983443 C>T), RS1002307156 (8:11984095 C>A,G), RS1002678421 (8:11980965 T>G), RS1003015708 (8:11984752 G>A,C), RS1003347527 (8:11984942 C>A,T), RS1003518128 (8:11981168 C>G), RS1003716227 (8:11981644 G>A), RS1003830876 (8:11983848 T>A), RS1004832887 (8:11984905 C>A,G), RS1005138837 (8:11980501 G>A,C), RS1006269825 (8:11980265 C>A), RS1006706317 (8:11982525 G>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

21 associations (top):

StudyTraitp-value
GCST004625_106Monocyte count3.000000e-09
GCST005896_75Non-melanoma skin cancer4.000000e-08
GCST007709_220General factor of neuroticism1.000000e-08
GCST007709_251General factor of neuroticism5.000000e-09
GCST007709_63General factor of neuroticism3.000000e-11
GCST010002_269Refractive error1.000000e-24
GCST010142_4Fish- and plant-related diet2.000000e-12
GCST010142_6Fish- and plant-related diet3.000000e-12
GCST010142_63Fish- and plant-related diet2.000000e-12
GCST010142_67Fish- and plant-related diet1.000000e-10
GCST010142_70Fish- and plant-related diet8.000000e-10
GCST010142_89Fish- and plant-related diet4.000000e-16
GCST010142_90Fish- and plant-related diet7.000000e-15
GCST010703_306Brain morphology (MOSTest)5.000000e-26
GCST012226_749Waist circumference adjusted for body mass index3.000000e-08
GCST012228_427Waist-hip index2.000000e-09
GCST012230_58Waist-to-hip ratio adjusted for BMI7.000000e-09
GCST012231_98A body shape index2.000000e-08
GCST90020024_156A body shape index1.000000e-10
GCST90020029_980Waist circumference adjusted for body mass index6.000000e-11
GCST90020029_981Waist circumference adjusted for body mass index3.000000e-08

EFO canonical traits (7, from GWAS)

EFO IDTrait name
EFO:0005091monocyte count
EFO:0009260non-melanoma skin carcinoma
EFO:0007660neuroticism measurement
EFO:0008111diet measurement
EFO:0004346neuroimaging measurement
EFO:0007789BMI-adjusted waist circumference
EFO:0007788BMI-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

2 total (human), top 2 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneincreases methylation1
Phthalic Acidsdecreases methylation1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot