1. Gene
  2. DEFB1 - defensin beta 1 Gene

DEFB1 - defensin beta 1 Gene


种属: Homo sapiens

同用名: BD1; HBD1; DEFB-1; DEFB101

基因 ID: 1672 | 基因类型: protein coding

关于 DEFB1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:6,870,592-6,877,936 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele and 74 orthologues. Biased expression in kidney (RPKM 464.8), salivary gland (RPKM 76.4) and 2 other tissues.


防御素形成一个由中性粒细胞产生的杀微生物和细胞毒性肽家族。防御素家族的成员在蛋白质序列上高度相似。该基因编码防御素 β1,这是一种抗菌肽,与上皮表面对微生物定植的抵抗力有关。该基因定位在防御素家族成员防御素α1 附近,并与囊性纤维化的发病机制有关。[RefSeq 提供,2008 年 7 月]

Defensins form a family of microbicidal and cytotoxic Peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]

DEFB1 基因产物(1)

mRNA Protein Name
NM_005218.4 NP_005209.1 beta-defensin 1 preproprotein

DEFB1 蛋白结构


Defensin_beta: Beta defensin (33 - 68)

  • 0
  • 68 a.a.
蛋白主名 其他名称

beta-defensin 1


重组 DEFB1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7133 BD-1 Protein, Human P60022 (G22-K68) ≥95%


疾病名称 别名

Chronic Tonsillitis

Throat Infection - Tonsillitis


Acne Vulgaris

Acne Varioliformis

Frontalis Acne

Cystic Fibrosis



Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis


Acute Gastric Mucosal Erosion

Erosive Gastritis

Erosive Gastropathy

Gastritis Erosive

Idiopathic Erosive/Hemorrhagic Gastritis

Inflammation Of Gastric Mucosa


Gastritis Nos

Noninfectious Gastroenteritis

Nonbacterial Gastroenteritis Of Infant

Acute Gastric Infection

Acute Simple Gastritis

Chronic Antral Gastritis

Chronic Fundal Gastritis

Chronic Simple Gastritis

Acute Gastroduodenitis

Acute Antral Gastritis

Acute Erosive Gastritis

Bile Reflux Gastritis

Gastritis Due To Biliary Reflux

Bacterial Infectious Disease

Bacterial Infections

Bacterial Infection Nos

Disease Caused By Bacteria

Bacterial Disease Or Disorder

Dental Caries

Dental Caries Extending Into Pulp

Dental Caries Of Smooth Surface

Dental Caries Pit And Fissure

Smooth Surface Dental Caries

Dental Decay

Carious Teeth

Dental Cavity


Teeth Decayed

Tooth Caries

Tooth Decay

Aggressive Periodontitis

Juvenile Periodontitis

Periodontitis, Juvenile

Prepubertal Periodontitis


Chronic Pericementitis

Chronic Periodontitis


Systemic Candidiasis

Invasive Candidiasis

Disseminated Candidiasis

Systemic Candida Infections

Candidiasis, Invasive

Cyclothymic Disorder


Cycloid Personality

Cyclothymic Personality

Affective Personality Disorder

Cyclothymic Personality Disorder

Cycloid Personality Disorder

Cholesteatoma Of Middle Ear


Epidermosis Of Ear

Epidermosis Of Middle Ear

Middle Ear Cholesteatoma

Cholesteatoma Of Middle Ear And Mastoid

Cholesteatoma Of Middle Ear And/Or Mastoid

Cholesteatoma Of The Middle Ear

Congenital Cholesteatoma

Primary Acquired Cholesteatoma

Secondary Acquired Cholesteatoma

Cholesteatoma Middle Ear

Cholesteatoma, Middle Ear

Cholesterolosis Of Middle Ear

Cholesterosis Of Ear

Cholesterosis Of Middle Ear

Cholesteatoma Nos

Epidermoid Cholesteatoma

Middle Ear Granuloma


Nasolacrimal Sac Infection

Acute Inflammation Of Lacrimal Passage
Corneal Abscess
Nut Midline Carcinoma

Nuclear Protein In Testis Midline Carcinoma


Bipolar I Disorder

Manic Depression Nos

Manic-Depressive Illness

Bipolar Disorder Nos

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma


Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma


Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma


Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma


Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Simpson-Golabi-Behmel Syndrome, Type 1

Simpson-Golabi-Behmel Syndrome Type 1

Simpson-Golabi-Behmel Syndrome


Golabi-Rosen Syndrome

Simpson Dysmorphia Syndrome


Bulldog Syndrome



Dysplasia Gigantism Syndrome, X-Linked

X-Linked Dysplasia Gigantism Syndrome

Dgsx Golabi-Rosen Syndrome

Sara Angers Syndrome

Sgb Syndrome

Mental Retardation-Overgrowth Syndrome

Simpson Dysplasia Syndrome

Simpson Syndrome

Simpson-Golabi-Behmel Syndrome 1

Dysplasia Gigantism Syndrome X-Linked

Chromosome 17q23.1-Q23.2 Deletion Syndrome

17q23.1q23.2 Microdeletion Syndrome

17q23.1-Q23.2 Microdeletion Syndrome


Monosomy 17q23.1q23.2

Monosomy 17q23.1-Q23.2


Dysentery, Bacillary

Bacillary Dysentery

Shigella Boydii Infectious Disease

Shigella Flexneri Infectious Disease

Shigella Gastroenteritis

Shigella Sonnei Infectious Disease

Shigella Infections

Preterm Premature Rupture Of The Membranes

Preterm Premature Rupture Of Membranes


Preterm Premature Rupture Of The Membranes, Susceptibility To

Pprom - [Preterm Premature Rupture Of Membranes]

Preterm Rupture Of Membranes


Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma


种属 基因名 来源 基因 ID
Canis familiaris DEFB1 VGNC VGNC:39876
Rattus norvegicus DEFB1 RGD RGD:619943
Mus musculus DEFB1 MGD MGI:1096878