Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	245939
Gene name	Defensin beta 128
Gene symbol	DEFB128
Synonyms (NCBI Gene)	DEFB-28DEFB28hBD-28
Chromosome	20
Chromosome location	20p13
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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0006952	Process	Defense response	IEA
GO:0031640	Process	Killing of cells of another organism	IDA	15625724
GO:0042742	Process	Defense response to bacterium	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	15625724
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	15625724

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q7Z7B8

Protein name

Beta-defensin 128 (Beta-defensin 28) (DEFB-28) (Defensin, beta 128)

Protein function

Has antibacterial activity.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13841	Defensin_beta_2	23 → 53	Beta defensin	Domain

Sequence

MKLFLVLIILLFEVLTDGARLKKCFNKVTGYCRKKCKVGERYEIGCLSGKLCCANDEEEK
KHVSFKKPHQHSGEKLSVLQDYIILPTITIFTV

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.
DEFB128-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	GWAS catalog	25310821	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	29077507	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DEFB128 (defensin beta 128)

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