• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NNAT (HGNC:7860) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
neuronatin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
Peg5
%HI
21.87(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.4(Read more about gnomAD pLI score)
LOEUF
0.94(Read more about gnomAD LOEUF score)
Cytoband
20q11.23
Genomic Coordinates
GRCh37/hg19: chr20:36149652-36152092 NCBI Ensembl UCSC
GRCh38/hg38: chr20:37521250-37523690 NCBI Ensembl UCSC
MANE Select Transcript
NM_005386.4 ENST00000649451.1 (Read more about MANE Select)
Function
May participate in the maintenance of segment identity in the hindbrain and pituitary development, and maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of ion channels. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32145
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
04/28/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
At this time, no loss of function mutations in Nnat have been identified in human disease. Neuronatin is a paternally expressed imprinted gene that is initially expressed in the rhombomeres and pituitary gland and later more widely in the central and peripheral nervous system. In an association study, Vrang et al. (2010) identified two SNPs located in the 3′ region of Nnat (rs6090836 and rs6019102) that showed significant association with childhood obesity, class III adult obesity, and pooled severe forms of obesity (PMID: 19851307).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)