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FLASH GENE

Symbol

NRXN3

contributors: mct/pgu - updated : 01-12-2021

HGNC name	neurexin 3
HGNC id	8010

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3 in autism spectrum disorders constitutional germinal mutation       in Alzheimer disease (AD) patients constitutional     --low   of aging-related NRXN3 may increase AD risk constitutional   deletion     in motor and language delay with criteria for autism, intellectual disability, attention-deficit hyperactivity disorder and facial dysmorphic features

Susceptibility

to dependence on a variety of addictive substances to Alzheimer's disease (AD) to autism spectrum disorder (ASD)

Variant & Polymorphism SNP	increasing the risk of dependence on a variety of addictive substances
	functional haplotype in the 3' region of NRXN3 gene that alters the expression ratios between NRXN3 transmembrane and soluble isoforms, and associated with AD
	NRXN3 rs12879016 polymorphism played a significant role in ASD susceptibility

Candidate gene	for autism spectrum disorder
Marker	detection of PAX1/SOX1/ZNF582 methylation status may serve as a promising biomarker for ESCC screening and diagnosis of Esophageal squamous cell carcinoma (ESCC)
	for patients with high-grade cervical lesion and cervical cancer, the methylation level of PAX1/ZNF582 gene could be applied as a noteworthy biomarker for diagnosis
Therapy target

ANIMAL & CELL MODELS