Neuronatin

Neuronatin is a protein that in humans is encoded by the NNAT gene involved in mammalian brain development. It is located on Chromosome 20 in humans and is only expressed from the paternal allele in normal adults.^[5]

NNAT
Identifiers
Aliases	NNAT, Peg5, neuronatin
External IDs	OMIM: 603106; MGI: 104716; HomoloGene: 36176; GeneCards: NNAT; OMA:NNAT - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q11.23 Start 37,521,206 bp[1] End 37,523,690 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 78.4 cM|2 H1 Start 157,401,998 bp[2] End 157,404,442 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone pituitary gland anterior pituitary nucleus accumbens caudate nucleus amygdala putamen prefrontal cortex right frontal lobe Top expressed in median eminence saccule arcuate nucleus medial ganglionic eminence optic nerve subiculum mandibular prominence paraventricular nucleus of hypothalamus maxillary prominence dorsomedial hypothalamic nucleus More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 4826 18111 Ensembl ENSG00000053438 ENSMUSG00000067786 UniProt Q16517 Q61979 RefSeq (mRNA) NM_181689 NM_005386 NM_001322802 NM_001291128 NM_001291129 NM_001291130 NM_010923 NM_180960 RefSeq (protein) NP_001309731 NP_005377 NP_859017 NP_001278057 NP_001278058 NP_001278059 NP_035053 NP_851291 Location (UCSC) Chr 20: 37.52 – 37.52 Mb Chr 2: 157.4 – 157.4 Mb PubMed search [3] [4]
Wikidata
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Function

The protein neuronatin, a proteolipid, that functions in the control of ion channels during brain development. Neuronatin begins the differentiation of pluripotent stem cells into cells with a neural fate by increasing their calcium levels.^[6] Neuronatin expression in neural tissues throughout the brain contributes to development of the nervous system. It is also expressed in several tissues outside of the brain. For example, expression in skin cells controls the differentiation of keratinocytes. Neuronatin expression functions not only in development, but other processes throughout the body.

Clinical significance

It also plays a direct and indirect role in diabetes. Increased expression in pancreatic islet beta cells causes the beta form of the protein to build an aggregate structure. This causes the cells to undergo apoptosis, thus leading to diabetes mellitus.^[6] Its effects on glycogen metabolism through the dephosphorylation and activation of the enzyme glycogen synthase may also play an indirect role in contributing to the disease. A different type of malformation in the gene also has the potential to cause a variety of cancers. Contained within the promoter region of the gene are three CpG islands. These imprint regions function in the regulation of gene expression through the process of cytosine methylation. The loss of methylation within these areas triggers an irregular cell growth, resulting in embryonic neoplasms.^[6]