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FLASH GENE

Symbol

DEFB4A

contributors: mct - updated : 17-08-2011

HGNC name	defensin, beta 4A
HGNC id	2767

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8p23.1      Physical location : 7.752.198 - 7.754.236
Synonym name	skin-antimicrobial peptide 1
	defensin, beta 2
Synonym symbol(s)	HBD2, SAP1, BDO2, DEFB2, DEFB102, BD-2

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	2.04 kb     2 Exon(s)    2- Copie(s)

text structure

variation in tandem with DEFB103

MAPPING

cloned

Y

linked

N

status

provisional

Map	see DEFB8@
Text	transcription in pter to cen direction

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004942 2 - 336 isoform 1 - 64 - Linzmeier (2005)

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   lowly Reproductive female system placenta       Homo sapiens Visual eye anterior segment cornea       eye anterior segment conjunctiva

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium (mucosa)     Homo sapiens Epithelial absorptive excretory alveolar epithelium     Homo sapiens Epithelial barrier lining epidermis

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	cysteine-arginine rich antimicrobial peptide
	six disulfide-linked cysteines

HOMOLOGY

interspecies

homolog to C.elegans Y51a2d.14

Homologene

FAMILY

beta-defensin family

CATEGORY

immunity/defense , signaling

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	antibiotic, oxygen independent, phagocytic, active against Gram+, Gram- bacteria
	having the ability to stimulate odontoblast differentiation in addition to role in inflammation
	facilitates cholinergic Ca(2+)-regulated epithelial Cl(-) secretion (specific interaction of antimicrobial peptides with epithelial function)
	plays important roles in the innate and adaptive immune system of both vertebrates and invertebrates

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	bound to a range of GAGs including heparin/heparan sulfate (HS), dermatan sulfate (DS), and chondroitin sulfate (

cell & other

REGULATION

induced by

inflammation

Other	upregulated by IL1B
	regulated by SPHK1 in oral keratinocytes

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colon carcinoma tumoral     --over   in human lung cancer, and expression levels may depend on differentiation grade of lung adenocarcinoma ( constitutional     --over   in systemic lupus erythematosus

Susceptibility

low copy number may predispose to Crohn disease high copy number is associated to psoriasis

Variant & Polymorphism other	low beta-defensin gene copy number in Crohn disease was clearly associated with colonic disease localization, a normal beta-defensin copy number distribution was seen in Crohn disease of the ileum and also in ulcerative colitis

Candidate gene
Marker	second trimester amniotic fluid DEB4A might be a predictor of premature rupture of membranes
Therapy target

ANIMAL & CELL MODELS