DEFB131B

Summary

DEFB131B (defensin beta 131B, HGNC:38058) is a protein-coding gene on chromosome 11q13.4, encoding Beta-defensin 131B (A0A096LNP1). Has antibacterial activity.

Predicted to be involved in defense response to bacterium and innate immune response. Predicted to be located in extracellular region. Predicted to be active in extracellular space.

Source: NCBI Gene 100129216 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001242853

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:38058
Approved symbol	DEFB131B
Name	defensin beta 131B
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000225805
Ensembl biotype	protein_coding
Entrez	100129216

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000530210

RefSeq mRNA: 1 — MANE Select: NM_001242853 NM_001242853

CCDS: CCDS76450

Canonical transcript exons

ENST00000530210 — 2 exons

Exon	Start	End
ENSE00002163743	71878453	71878510
ENSE00002198096	71884407	71884561

Expression profiles

Bgee: expression breadth ubiquitous, 123 present calls, max score 79.56.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	79.56	gold quality
calcaneal tendon	UBERON:0003701	72.38	gold quality
endometrium	UBERON:0001295	67.99	gold quality
duodenum	UBERON:0002114	66.64	gold quality
body of uterus	UBERON:0009853	66.29	gold quality
ectocervix	UBERON:0012249	66.02	gold quality
descending thoracic aorta	UBERON:0002345	65.70	gold quality
right ovary	UBERON:0002118	65.56	gold quality
right uterine tube	UBERON:0001302	65.52	gold quality
left ovary	UBERON:0002119	65.40	gold quality
ovary	UBERON:0000992	63.44	gold quality
fundus of stomach	UBERON:0001160	63.34	gold quality
left uterine tube	UBERON:0001303	62.33	gold quality
right coronary artery	UBERON:0001625	61.94	gold quality
endocervix	UBERON:0000458	61.47	gold quality
minor salivary gland	UBERON:0001830	61.18	gold quality
left lobe of thyroid gland	UBERON:0001120	61.00	gold quality
right adrenal gland cortex	UBERON:0035827	60.61	gold quality
mucosa of stomach	UBERON:0001199	60.31	gold quality
fallopian tube	UBERON:0003889	60.09	gold quality
thyroid gland	UBERON:0002046	59.67	gold quality
saliva-secreting gland	UBERON:0001044	59.59	gold quality
small intestine Peyer’s patch	UBERON:0003454	59.31	gold quality
tibial nerve	UBERON:0001323	58.88	gold quality
metanephros cortex	UBERON:0010533	58.45	gold quality
rectum	UBERON:0001052	57.92	gold quality
right adrenal gland	UBERON:0001233	57.92	gold quality
adrenal tissue	UBERON:0018303	57.87	gold quality
lower esophagus muscularis layer	UBERON:0035833	57.61	gold quality
uterine cervix	UBERON:0000002	57.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.12

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb43	ENSMUSG00000075572
rattus_norvegicus	Defb43	ENSRNOG00000038759

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), DEFB135 (ENSG00000205883), DEFB108C (ENSG00000215371), DEFB116 (ENSG00000215545), DEFB115 (ENSG00000215547)

Protein

Protein identifiers

Beta-defensin 131B — A0A096LNP1 (reviewed: A0A096LNP1)

Alternative names: Defensin, beta 131

All UniProt accessions (1): A0A096LNP1

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_001229782* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025933	Beta_defensin_dom	Domain

Pfam: PF13841

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A096LNP1-F1	68.41	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): 29–56, 36–50, 40–57

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 5 (showing top): chr11q13, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_RESPONSE_TO_BACTERIUM, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS

GO Biological Process (3): defense response to bacterium (GO:0042742), innate immune response (GO:0045087), defense response (GO:0006952)

GO Molecular Function (0):

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

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
cellular anatomical structure	1

Protein interactions and networks

STRING

2 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB131B	DEFB115	Q30KQ5	136

IntAct

0 interactions, top by confidence:

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: A0A096LNP1, P59861, Q30KJ8, Q30KM9, Q32ZF3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

149 predictions. Top by Δscore:

Variant	Effect	Δscore
11:71878511:G:GG	donor_gain	0.9900
11:71884403:A:AG	acceptor_gain	0.9800
11:71884404:A:G	acceptor_gain	0.9700
11:71884405:A:AG	acceptor_gain	0.9600
11:71884406:G:GG	acceptor_gain	0.9600
11:71884406:GCCA:G	acceptor_gain	0.9600
11:71878516:G:GT	donor_gain	0.9500
11:71881019:T:G	donor_gain	0.9500
11:71881012:A:G	donor_gain	0.9400
11:71884404:AAGCC:A	acceptor_loss	0.9200
11:71878507:CCAAG:C	donor_loss	0.9100
11:71878508:CAAG:C	donor_loss	0.9100
11:71878510:AG:A	donor_loss	0.9100
11:71878511:G:GA	donor_loss	0.9100
11:71878512:T:G	donor_loss	0.9100
11:71884439:TCAGA:T	acceptor_gain	0.8900
11:71884440:CAGAA:C	acceptor_gain	0.8900
11:71878517:C:T	donor_gain	0.8800
11:71884438:TTCAG:T	acceptor_gain	0.8800
11:71884441:AGAAT:A	acceptor_gain	0.8800
11:71881608:G:GT	donor_gain	0.8700
11:71878513:AAG:A	donor_loss	0.8300
11:71881011:AAT:A	donor_gain	0.8300
11:71884437:CTTCA:C	acceptor_gain	0.8300
11:71884442:G:T	acceptor_gain	0.8300
11:71881003:GTTGT:G	donor_gain	0.8200
11:71884441:AGAA:A	acceptor_loss	0.8200
11:71878673:G:GA	donor_gain	0.8000
11:71878549:A:G	donor_gain	0.7800
11:71884406:GC:G	acceptor_gain	0.7600

AlphaMissense

464 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:71884466:T:A	C40S	0.981
11:71884467:G:C	C40S	0.981
11:71884517:T:A	C57S	0.974
11:71884518:G:C	C57S	0.974
11:71884518:G:A	C57Y	0.969
11:71884514:T:A	C56S	0.963
11:71884515:G:C	C56S	0.963
11:71884466:T:C	C40R	0.961
11:71884496:T:A	C50S	0.961
11:71884497:G:C	C50S	0.961
11:71884497:G:A	C50Y	0.960
11:71884498:T:G	C50W	0.956
11:71884519:C:G	C57W	0.955
11:71884514:T:C	C56R	0.952
11:71884468:C:G	C40W	0.949
11:71884454:T:A	C36S	0.946
11:71884455:G:C	C36S	0.946
11:71884515:G:A	C56Y	0.946
11:71884516:C:G	C56W	0.946
11:71884518:G:T	C57F	0.945
11:71884467:G:T	C40F	0.944
11:71884467:G:A	C40Y	0.943
11:71884517:T:C	C57R	0.942
11:71884496:T:C	C50R	0.940
11:71884479:A:T	E44V	0.939
11:71884456:C:G	C36W	0.937
11:71884480:A:C	E44D	0.925
11:71884480:A:T	E44D	0.925
11:71884455:G:A	C36Y	0.917
11:71884497:G:T	C50F	0.914

dbSNP variants (sampled 300 via entrez): RS1001054048 (11:71882054 T>C), RS1001080413 (11:71881742 A>C), RS1001677393 (11:71885013 G>A), RS1001740956 (11:71879112 C>T), RS1001750774 (11:71878837 A>C), RS1002072849 (11:71880598 G>A,C,T), RS1002082773 (11:71880294 T>C), RS1002747008 (11:71877485 A>C), RS1004185204 (11:71881369 T>C), RS1004524758 (11:71882605 C>T), RS1005251211 (11:71879868 C>A), RS1005302163 (11:71879595 G>A), RS1007644643 (11:71878076 G>A,T), RS1007795334 (11:71884149 T>C), RS1008462912 (11:71881420 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
gallium arsenide	decreases expression	1

Clinical trials (associated diseases)

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