NRXN2 (neurexin 2)

2014-11-01  

Identity

HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 9379
MIM: 600566
HGNC: 8009
Ensembl: ENSG00000110076

Variants:

dbSNP: 9379
ClinVar: 9379
TCGA: ENSG00000110076
COSMIC: NRXN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110076ENST00000265459Q9P2S2
ENSG00000110076ENST00000301894P58401
ENSG00000110076ENST00000377559Q9P2S2
ENSG00000110076ENST00000409571G5E9G7
ENSG00000110076ENST00000417749H7C3D6
ENSG00000110076ENST00000423049H7C2R8
ENSG00000110076ENST00000437746H7C3J4
ENSG00000110076ENST00000442300H7BZC7

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Cell adhesion molecules (CAMs)KEGGhsa04514
Neuronal SystemREACTOMER-HSA-112316
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

References

Pubmed IDYearTitleCitations
214246922011Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.91
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
254502292015The contribution of rare and common variants in 30 genes to risk nicotine dependence.25
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
280132312017Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.7
290450402018Neurexin gene family variants as risk factors for autism spectrum disorder.7
189508452009Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.5
307098772019Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.2
296549042018A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors.1

Citation

Dessen P

NRXN2 (neurexin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70978/nrxn2