The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and i... See more...

Aliases for NNAT Gene

Aliases for NNAT Gene

  • Neuronatin 2 3 4 5
  • Peg5 2 3
  • NNAT 5

External Ids for NNAT Gene

Previous GeneCards Identifiers for NNAT Gene

  • GC20P035878
  • GC20P035838
  • GC20P036788
  • GC20P036835
  • GC20P035583
  • GC20P036149
  • GC20P032885

Summaries for NNAT Gene

Entrez Gene Summary for NNAT Gene

  • The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]

GeneCards Summary for NNAT Gene

NNAT (Neuronatin) is a Protein Coding gene. Diseases associated with NNAT include Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 and Myopathy, Centronuclear, 6, With Fiber-Type Disproportion.

UniProtKB/Swiss-Prot Summary for NNAT Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NNAT Gene

Genomics for NNAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NNAT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J037516 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.5 1520 13.4 SP1 HNRNPL GATAD2A ZBTB33 TEAD4 PRDM10 ZNF629 TFE3 ZNF512 RFX1 BLCAP NNAT RALGAPB RBL1 SNHG17 TTI1 SOGA1 SNORA71C MROH8 RPN2
GH20J037411 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 16.3 -108.2 -108208 4 ARHGAP35 PRDM1 ZIC2 ZSCAN4 POLR2A FOXK2 MNT ZNF207 RUNX3 FOXA1 RBL1 DSN1 RPN2 TTI1 NNAT CTNNBL1 VSTM2L TLDC2 TGIF2 DLGAP4-AS1
GH20J037405 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas 5.1 -114.7 -114682 1.1 HNRNPL PRDM10 TFE3 ZNF512 NFKBIZ ZNF692 POLR2A BACH1 LARP7 ZNF143 RPN2 RPRD1B TTI1 RBL1 TGIF2 TLDC2 NNAT VSTM2L MROH8 lnc-BLCAP-6
GH20J037550 Enhancer 0.6 Ensembl 12 +31.5 31495 0.6 NFE2 ZNF316 FOSL1 MAFG ATF3 FOS JUND BACH1 EMSY MAFK PPIAP3 BLCAP NNAT piR-31432-413 LINC01746 CTNNBL1
GH20J037421 Enhancer 0.8 FANTOM5 CraniofacialAtlas 8.3 -99.5 -99508 1.4 PRDM1 ZIC2 POLR2A ZNF600 NONO ZFHX2 ZNF18 STAT5A ZNF398 NFATC1 lnc-BLCAP-6 VSTM2L NNAT SRC lnc-SRC-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NNAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NNAT

Top Transcription factor binding sites by QIAGEN in the NNAT gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB
  • E2F
  • E2F-1

Genomic Locations for NNAT Gene

Genomic Locations for NNAT Gene
chr20:37,521,206-37,523,690
(GRCh38/hg38)
Size:
2,485 bases
Orientation:
Plus strand
chr20:36,149,607-36,152,092
(GRCh37/hg19)
Size:
2,486 bases
Orientation:
Plus strand

Genomic View for NNAT Gene

Genes around NNAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NNAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NNAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NNAT Gene

Proteins for NNAT Gene

  • Protein details for NNAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16517-NNAT_HUMAN
    Recommended name:
    Neuronatin
    Protein Accession:
    Q16517
    Secondary Accessions:
    • B2R558
    • E1P5V6
    • Q16596
    • Q5U0N3

    Protein attributes for NNAT Gene

    Size:
    81 amino acids
    Molecular mass:
    9237 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NNAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NNAT Gene

Post-translational modifications for NNAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NNAT Gene

No data available for DME Specific Peptides for NNAT Gene

Domains & Families for NNAT Gene

Gene Families for NNAT Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for NNAT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NNAT Gene

GenScript: Design optimal peptide antigens:
  • Neuronatin (NNAT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16517

UniProtKB/Swiss-Prot:

NNAT_HUMAN :
  • Belongs to the neuronatin family.
Family:
  • Belongs to the neuronatin family.
genes like me logo Genes that share domains with NNAT: view

Function for NNAT Gene

Molecular function for NNAT Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for NNAT Gene

genes like me logo Genes that share phenotypes with NNAT: view

Animal Models for NNAT Gene

MGI Knock Outs for NNAT:

Animal Model Products

  • Taconic Biosciences Mouse Models for NNAT

CRISPR Products

miRNA for NNAT Gene

miRTarBase miRNAs that target NNAT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NNAT

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NNAT Gene

Localization for NNAT Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NNAT gene
Compartment Confidence
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NNAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NNAT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for NNAT Gene

Pathways & Interactions for NNAT Gene

PathCards logo

SuperPathways for NNAT Gene

No Data Available

Interacting Proteins for NNAT Gene

Gene Ontology (GO) - Biological Process for NNAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007420 brain development IEA,IBA 21873635
GO:0009249 protein lipoylation TAS 8813377
GO:0030182 neuron differentiation IEA --
GO:0032024 positive regulation of insulin secretion IBA 21873635
genes like me logo Genes that share ontologies with NNAT: view

No data available for Pathways by source and SIGNOR curated interactions for NNAT Gene

Drugs & Compounds for NNAT Gene

No Compound Related Data Available

Transcripts for NNAT Gene

mRNA/cDNA for NNAT Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NNAT

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NNAT Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d
SP1: -
SP2: - -
SP3: -

Relevant External Links for NNAT Gene

GeneLoc Exon Structure for
NNAT

Expression for NNAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NNAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NNAT Gene

This gene is overexpressed in Pituitary (x16.5), Brain - Nucleus accumbens (basal ganglia) (x8.4), Brain - Caudate (basal ganglia) (x4.8), and Brain - Putamen (basal ganglia) (x4.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NNAT

SOURCE GeneReport for Unigene cluster for NNAT Gene:

Hs.504703

Evidence on tissue expression from TISSUES for NNAT Gene

  • Nervous system(4.9)
  • Eye(4.6)
  • Liver(2.3)
  • Skin(2.2)
  • Muscle(2.2)
  • Kidney(2.2)
  • Blood(2.1)
  • Heart(2.1)
  • Pancreas(2.1)
  • Adrenal gland(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with NNAT: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NNAT Gene

Orthologs for NNAT Gene

This gene was present in the common ancestor of mammals.

Orthologs for NNAT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NNAT 30 31
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NNAT 31
  • 100 (a)
OneToOne
LOC609195 30
  • 96.71 (n)
Mouse
(Mus musculus)
Mammalia Nnat 30 17 31
  • 96.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nnat 30
  • 96.3 (n)
Cow
(Bos Taurus)
Mammalia NNAT 30 31
  • 94.65 (n)
OneToOne
Species where no ortholog for NNAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for NNAT Gene

ENSEMBL:
Gene Tree for NNAT (if available)
TreeFam:
Gene Tree for NNAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NNAT: view image

Paralogs for NNAT Gene

No data available for Paralogs for NNAT Gene

Variants for NNAT Gene

Additional dbSNP identifiers (rs#s) for NNAT Gene

Structural Variations from Database of Genomic Variants (DGV) for NNAT Gene

Variant ID Type Subtype PubMed ID
nsv1055206 CNV loss 25217958
nsv585962 CNV loss 21841781

Variation tolerance for NNAT Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NNAT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NNAT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NNAT Gene

Disorders for NNAT Gene

MalaCards: The human disease database

(7) MalaCards diseases for NNAT Gene - From: DISEASES and GeneCards

genes like me logo Genes that share disorders with NNAT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NNAT Gene

Publications for NNAT Gene

  1. Structure and organization of the human neuronatin gene. (PMID: 8660979) Dou D … Joseph R (Genomics 1996) 2 3 4 23
  2. cDNA cloning and mRNA expression analysis of the human neuronatin. High level expression in human pituitary gland and pituitary adenomas. (PMID: 9356927) Usui H … Kumanishi T (Journal of molecular neuroscience : MN 1997) 3 4 23
  3. Cloning of human neuronatin gene and its localization to chromosome-20q 11.2-12: the deduced protein is a novel "proteolipid'. (PMID: 8813377) Dou D … Joseph R (Brain research 1996) 3 4 23
  4. Neuronatin is a stress-responsive protein of rod photoreceptors. (PMID: 27109921) Shinde V … Gorbatyuk M (Neuroscience 2016) 2 3
  5. Loss of neuronatin expression is associated with promoter hypermethylation in pituitary adenoma. (PMID: 19218280) Revill K … Farrell WE (Endocrine-related cancer 2009) 3 23

Products for NNAT Gene

Sources for NNAT Gene