 |
NRXN3 |
Gene Facts External Data Attribution
- HGNC Symbol
- NRXN3 (HGNC:8010) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- neurexin 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C14orf60
- Alias symbols
- KIAA0743
- %HI
- 0.35(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.32(Read more about gnomAD LOEUF score)
- Cytoband
- 14q24.3-q31.1
- Genomic Coordinates
-
GRCh37/hg19: chr14:78636716-80334634 NCBI Ensembl UCSC GRCh38/hg38: chr14:78170373-79868291 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001330195.2 ENST00000335750.7 (Read more about MANE Select)
- Function
- Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling (By similarity). {ECO:0000250|UniProtKB:Q9CS84}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2259
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)
