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Entrez ID	245940
Gene name	Defensin beta 130A
Gene symbol	DEFB130A
Synonyms (NCBI Gene)	DEFB-30DEFB130DEFB130LDEFB30
Chromosome	8
Chromosome location	8p23.1
Summary	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 gene

14 Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005829	Component	Cytosol	IDA	28181499
GO:0006952	Process	Defense response	IEA
GO:0031731	Function	CCR6 chemokine receptor binding	IBA
GO:0042056	Function	Chemoattractant activity	IBA
GO:0042742	Process	Defense response to bacterium	IBA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042832	Process	Defense response to protozoan	IMP	28181499
GO:0050918	Process	Positive chemotaxis	IEA
GO:0051838	Process	Cytolysis by host of symbiont cells	IMP	28181499
GO:0060326	Process	Cell chemotaxis	IBA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IMP	28181499
GO:0098542	Process	Defense response to other organism	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

P0DP74

Protein name

Beta-defensin 130A (Beta-defensin 130) (Beta-defensin 30) (DEFB-30) (Defensin, beta 130)

Protein function

Antimicrobial host-defense peptide. Has an antiplasmodial activity.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00711	Defensin_beta	28 → 61	Beta defensin	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed on differentiated macrophage phagocytizing plasmodium falciparum-parasitized erythrocytes. {ECO:0000269|PubMed:28181499}.

Sequence

MKLHSLISVLLLFVTLIPKGKTGVIPGQKQCIALKGVCRDKLCSTLDDTIGICNEGKKCC
RRWWILEPYPTPVPKGKSP

Sequence length

Interactions

View interactions

Reactome Pathway
Beta defensins
Defensins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
NEUROTIC DISORDER	—	GWAS catalog	29255261	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DEFB130A (defensin beta 130A)

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