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FLASH GENE

Symbol

DEFB126

contributors: mct - updated : 04-05-2021

HGNC name	defensin, beta 126
HGNC id	15900

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	20p13      Physical location : 123.251 - 126.391
Genatlas name	epididymal secretory protein ESP13.2
Synonym name	epididymis secretory sperm binding protein
Synonym symbol(s)	C20orf8, DEFB-26, ESP13.2, bA530N10.1, hBD26

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	3.16 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	see DEFB20p@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_030931 2 - 434 NP_112193 - 111 - 2015 25721098

EXPRESSION

Type	restricted

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 Cardiovascular heart         Nervous brain         Reproductive male system male genital tract epididymis     Homo sapiens   male system prostate

cell lineage
cell lines
fluid/secretion	seminal fluid

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	signal peptide
	conserved beta-defensin core, having critical functions in parallel to its C-terminal tail by showing LPS-binding activity, anti-inflammatory effects and intracellular regulatory function
	a unique long glycosylated peptide tail

HOMOLOGY

Homologene

FAMILY

beta-defensin family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	playing a role in sperm maturation and in the proinflammatory response
	DEFB126 is critical for efficient transport of sperm in the female reproductive tract, preventing their recognition by the female immune system, and might facilitate the delivery of capacitated sperm to the site of fertilization
	DEFB126 is important in human sperm maturation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to male age infertility

Variant & Polymorphism other	age-related sperm differential methylation that accounted for 64 p100 of the effect of male age on lower fertilization rate
	common mutation in the defensin DEFB126 causes impaired sperm function and subfertility

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS