DEFB127

Summary

DEFB127 (defensin beta 127, HGNC:16206) is a protein-coding gene on chromosome 20p13, encoding Beta-defensin 127 (Q9H1M4). 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 20p13.

Source: NCBI Gene 140850 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 15 total
• MANE Select transcript: NM_139074

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16206
Approved symbol	DEFB127
Name	defensin beta 127
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	bA530N10.2, DEF-27
Ensembl gene	ENSG00000088782
Ensembl biotype	protein_coding
Entrez	140850

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000382388

RefSeq mRNA: 1 — MANE Select: NM_139074 NM_139074

CCDS: CCDS12991

Canonical transcript exons

ENST00000382388 — 2 exons

Exon	Start	End
ENSE00001166560	158774	159163
ENSE00001491947	157454	157593

Expression profiles

Bgee: expression breadth broad, 12 present calls, max score 99.25.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1723 / max 296.3844, expressed in 4 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182987	0.1046	3
182988	0.0510	2
182989	0.0116	2
182986	0.0052	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	99.25	gold quality
cauda epididymis	UBERON:0004360	94.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.67	silver quality
caput epididymis	UBERON:0004358	69.93	gold quality
tibialis anterior	UBERON:0001385	63.60	silver quality
ileal mucosa	UBERON:0000331	60.96	silver quality
pancreatic ductal cell	CL:0002079	60.74	silver quality
buccal mucosa cell	CL:0002336	60.71	gold quality
epithelial cell of pancreas	CL:0000083	54.74	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
deltoid	UBERON:0001476	51.67	gold quality
myocardium	UBERON:0002349	50.25	gold quality
cerebellar vermis	UBERON:0004720	48.93	gold quality
quadriceps femoris	UBERON:0001377	47.89	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
vastus lateralis	UBERON:0001379	45.40	gold quality
thymus	UBERON:0002370	44.61	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
upper leg skin	UBERON:0004262	43.27	silver quality
secondary oocyte	CL:0000655	42.57	gold quality
muscle tissue	UBERON:0002385	41.65	gold quality
skeletal muscle tissue	UBERON:0001134	41.64	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
cartilage tissue	UBERON:0002418	40.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.48

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting DEFB127, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-7702	99.06	65.95	698
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-493-3P	97.50	66.44	731
HSA-MIR-3974	96.56	66.22	928
HSA-MIR-548AD-3P	94.39	66.04	350

Literature-anchored findings (GeneRIF, showing 2)

• The protein encoded by this gene is thought to display antimicrobial activity. (PMID:12620395)
• Genome-wide association study on coronary artery disease in type 1 diabetes suggests beta-defensin 127 as a risk locus. (PMID:32077919)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb22	ENSMUSG00000027468
rattus_norvegicus	Defb22	ENSRNOG00000007525

Paralogs (19): 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), DEFB135 (ENSG00000205883), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB115 (ENSG00000215547), DEFB131B (ENSG00000225805)

Protein

Protein identifiers

Beta-defensin 127 — Q9H1M4 (reviewed: Q9H1M4)

Alternative names: Beta-defensin 27, Defensin, beta 127

All UniProt accessions (1): Q9H1M4

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_620713* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain
IPR050544	Beta-defensin	Family

Pfam: PF13841

UniProt features (9 total): disulfide bond 3, sequence variant 2, signal peptide 1, peptide 1, propeptide 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H1M4-F1	81.86	0.27

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): 24–53, 33–47, 37–54

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 16 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_HUMORAL_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_RESPONSE_TO_BACTERIUM, MODULE_49, GOBP_ANTIMICROBIAL_HUMORAL_IMMUNE_RESPONSE_MEDIATED_BY_ANTIMICROBIAL_PEPTIDE, REACTOME_ANTIMICROBIAL_PEPTIDES, MIR7856_5P, chr20p13, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, GSE29614_CTRL_VS_DAY3_TIV_FLU_VACCINE_PBMC_UP, REACTOME_DEFENSINS

GO Biological Process (5): defense response to bacterium (GO:0042742), innate immune response (GO:0045087), defense response to Gram-negative bacterium (GO:0050829), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), 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
defense response to bacterium	1
antimicrobial humoral response	1
response to stress	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

300 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB127	DEFB125	Q8N687	751
DEFB127	DEFB134	Q4QY38	742
DEFB127	DEFB126	Q9BYW3	720
DEFB127	DEFB114	Q30KQ6	712
DEFB127	DEFB124	Q8NES8	700
DEFB127	DEFB132	Q7Z7B7	695
DEFB127	DEFB129	Q9H1M3	690
DEFB127	DEFB135	Q30KP9	672
DEFB127	DEFB118	Q96PH6	665
DEFB127	DEFB110	Q30KQ9	648
DEFB127	DEFB115	Q30KQ5	643
DEFB127	DEFB116	Q30KQ4	609
DEFB127	DEFB131A	P59861	590
DEFB127	DEFB113	Q30KQ7	546
DEFB127	DEFB1	P60022	520

IntAct

43 interactions, top by confidence:

A	B	Type	Score
DEFB127	TFEC	psi-mi:“MI:0915”(physical association)	0.560
TFEC	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
DEFB127	CD79A	psi-mi:“MI:0915”(physical association)	0.560
DEFB127	CPLX4	psi-mi:“MI:0915”(physical association)	0.560
DEFB127	PIANP	psi-mi:“MI:0915”(physical association)	0.560
DEFB127	AQP6	psi-mi:“MI:0915”(physical association)	0.560
BCL2L13	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
ASZ1	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
CD79A	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
CPLX4	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
PIANP	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
MMGT1	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
EBP	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
DEFB127	AURKAIP1	psi-mi:“MI:0915”(physical association)	0.560
AQP6	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
DEFB127	DCTN6	psi-mi:“MI:0914”(association)	0.530
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
DEFB127	ASZ1	psi-mi:“MI:0915”(physical association)	0.000
DEFB127	BCL2L13	psi-mi:“MI:0915”(physical association)	0.000
DEFB127	FAM174A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): DEFB127 (Two-hybrid), HTRA1 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), DCTN6 (Affinity Capture-MS), DCTN5 (Affinity Capture-MS), SH3BGR (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN4 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTR1B (Affinity Capture-MS), ACTR1A (Affinity Capture-MS), DCTN2 (Affinity Capture-MS), DEFB127 (Two-hybrid), DEFB127 (Two-hybrid), BCL2L13 (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: A4H253, A4H254, A4H255, Q30KK1, Q30KP3, Q32ZH2, Q5J5Z9, Q7Z7B8, Q9H1M4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

61 predictions. Top by Δscore:

Variant	Effect	Δscore
20:158772:A:AG	acceptor_gain	1.0000
20:158773:G:GG	acceptor_gain	1.0000
20:157589:CACAG:C	donor_loss	0.9900
20:157590:ACAG:A	donor_loss	0.9900
20:157594:GTAA:G	donor_loss	0.9900
20:158770:ATAG:A	acceptor_loss	0.9900
20:158771:TAGT:T	acceptor_loss	0.9900
20:158772:A:G	acceptor_loss	0.9900
20:158773:GT:G	acceptor_gain	0.9900
20:158773:GTA:G	acceptor_gain	0.9900
20:157595:T:A	donor_loss	0.9800
20:158765:T:A	acceptor_gain	0.9800
20:158773:GTAA:G	acceptor_gain	0.9800
20:158773:GTAAC:G	acceptor_gain	0.9800
20:158767:T:TA	acceptor_gain	0.9700
20:158770:A:AG	acceptor_gain	0.9700
20:158771:T:G	acceptor_gain	0.9700
20:157681:G:T	donor_gain	0.9100
20:158775:A:AG	acceptor_gain	0.9000
20:158771:TAGTA:T	acceptor_gain	0.8900
20:158772:AGTAA:A	acceptor_gain	0.8900
20:157657:G:T	donor_gain	0.8800
20:158765:T:TA	acceptor_loss	0.8800
20:158775:AACC:A	acceptor_gain	0.8200
20:158769:TATAG:T	acceptor_gain	0.8000
20:158770:ATAGT:A	acceptor_gain	0.8000
20:157534:A:T	donor_gain	0.7600
20:158815:G:T	acceptor_gain	0.7600
20:158776:A:G	acceptor_gain	0.7300
20:157594:G:GG	donor_gain	0.6600

AlphaMissense

647 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:158799:G:C	W25C	0.678
20:158799:G:T	W25C	0.678
20:158826:G:C	R34S	0.663
20:158826:G:T	R34S	0.663
20:158863:T:A	C47S	0.621
20:158864:G:C	C47S	0.621
20:158790:G:C	K22N	0.610
20:158790:G:T	K22N	0.610
20:158794:T:A	C24S	0.610
20:158795:G:C	C24S	0.610
20:158884:T:A	C54S	0.589
20:158885:G:C	C54S	0.589
20:158815:G:A	G31R	0.579
20:158815:G:C	G31R	0.579
20:158794:T:C	C24R	0.576
20:158833:T:A	C37S	0.571
20:158834:G:C	C37S	0.571

dbSNP variants (sampled 300 via entrez): RS1000042223 (20:155909 A>G), RS1001586049 (20:158757 C>A,T), RS1002010518 (20:158028 G>C), RS1003421155 (20:156806 A>G), RS1004329854 (20:159521 A>C), RS1006362868 (20:156804 C>T), RS1006698011 (20:158107 G>A,T), RS1006728884 (20:157822 T>C), RS1008361972 (20:159380 A>G), RS1008391048 (20:156036 T>C), RS1008402923 (20:159168 G>C,T), RS1009917852 (20:159412 T>C), RS1010812875 (20:157689 GC>G), RS1010927395 (20:157982 C>A,G), RS1011946279 (20:156762 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

1 associations (top):

Study	Trait	p-value
GCST011116_9	Coronary artery disease in type 1 diabetes	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	1
Silicon Dioxide	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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