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FLASH GENE

Symbol

NRXN2

contributors: mct/pgu - updated : 06-04-2016

HGNC name	neurexin 2
HGNC id	8009

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11q13.1      Physical location : 64.373.647 - 64.490.660
Synonym name	neurexin II
	neurexin II-alpha
	neurexin II-beta
Synonym symbol(s)	RN2AH, KIAA0921, FLJ40892

DNA

TYPE	functioning gene
STRUCTURE	117.02 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	alternative promoter
text structure	two promoters: one promoter for the transcription of alpha neurexin and one for the beta

MAPPING

cloned

Y

linked

N

status

tentative : very preliminary evidence

RNA

TRANSCRIPTS	type	messenger

text	long and shorter both with alternatively spliced isoforms (PMID: 9448462), the alpha and beta isoforms differ in their N terminus by use of alternative promoters in the NRXN2 gene neuronal activity-dependent splicing of NRXN2alpha (PMID: 17107668)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015080 23 splicing initiation site 6639 NP_055895 185 1712 - 2002 11944992 variant alpha-1 NM_138734 7 splicing initiation site 3535 NP_620063 - 666 - 2002 11944992 variant beta the cytoplasmic C terminal region binds CASK binding to alpha dystroglycan lacks the N terminal five LNS domains and the EGF-like repeats, the C terminus region is conserved alternative splicing in the laminin g-like domain regulates binding to alpha-dystroglycan NM_138732 20 - 6413 NP_620060 - 1642 - 2002 11944992 variant alpha-2

EXPRESSION

Type

widely

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 Nervous brain       predominantly   nerve cranial nerve     highly Reproductive female system ovary     lowly   male system testis     lowly Urinary kidney       lowly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	brain lowly

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal signal peptide
	three overall repeats, each composed of two similar domains LNS (laminin A/neurexin/sex hormone-binding globulin) separated from each other by an EGF-like sequence
	an O-glycosylation site
	a single TM segment
	a short cytoplasmic tail

HOMOLOGY

interspecies

homolog to rattus Neurexin II alpha

Homologene

FAMILY

neurexin family

CATEGORY

adhesion , signaling

SUBCELLULAR LOCALIZATION	plasma membrane
text	type I membrane protein

basic FUNCTION	neuronal cell surface protein involved in cell recognition and cell adhesion
	mediating intracellular signaling
	play an essential role in synapse function, and its alterations are linked to autistic spectrum disorder
	polymorphic presynaptic proteins that are implicated in synaptic plasticity and memory processing
	NRXN2 may play a part in early cortical synaptogenesis, but NRXNs could have diverse roles in development including axon guidance, and intercellular communication between proliferating cells and/or migrating neurons

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

text

putative

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	other,
	binding to alpha-dystroglycan

protein

neuroxophilin 1 (by laminin g-like domain 2)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to autism spectrum disorders (ASD)

Variant & Polymorphism other	NRXN2 rs12273892 polymorphism T allele and AT genotype were significantly associated with increased risk of ASD

Candidate gene	for autism
Marker
Therapy target

ANIMAL & CELL MODELS