NNAT |
- 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)