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Ovarian Kaleidoscope Database (OKdb)

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HPMR

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176557

neurexin 3 OKDB#: 5908
 Symbols: NRXN3 Species: human
 Synonyms: C14orf60  Locus: 14q24.3-q31.1 in Homo sapiens
HPMR


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]
General function Receptor, Cell adhesion molecule
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment jianzheng
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Feb. 14, 2021, 7:40 p.m. by: system   email:
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last update: Feb. 14, 2021, 10:14 p.m. by: hsueh    email:



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