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    NRGN neurogranin [ Homo sapiens (human) ]

    Gene ID: 4900, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NRGNprovided by HGNC
    Official Full Name
    neurograninprovided by HGNC
    Primary source
    HGNC:HGNC:8000
    See related
    Ensembl:ENSG00000154146 MIM:602350; AllianceGenome:HGNC:8000
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RC3; hng
    Summary
    Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 309.5) and lung (RPKM 24.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See NRGN in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124739942..124747210)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124768605..124775873)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124609838..124617106)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene sialic acid acetylesterase Neighboring gene uncharacterized LOC124902780 Neighboring gene sperm autoantigenic protein 17 Neighboring gene MPRA-validated peak1498 silencer Neighboring gene uncharacterized LOC107984405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124615273-124615806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124616341-124616874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4027 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:124621349-124621910 Neighboring gene Sharpr-MPRA regulatory region 10895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5691 Neighboring gene V-set and immunoglobulin domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124631741-124632244 Neighboring gene ESAM antisense RNA 1 Neighboring gene endothelial cell adhesion molecule

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic and functional analysis of the gene encoding neurogranin in schizophrenia. Shen YC, et al. Schizophr Res, 2012 May. PMID 22306195
    2. Minor allele C of rs12807809 polymorphism in NRGN contributes to the severity of psychosis in patients with Schizophrenia in South Indian population. Sudesh R, et al. Neurosci Lett, 2017 May 10. PMID 28389239
    3. Diagnostic and Prognostic Utility of the Synaptic Marker Neurogranin in Alzheimer Disease. Tarawneh R, et al. JAMA Neurol, 2016 May 1. PMID 27018940, Free PMC Article
    4. Polymorphisms in NRGN are associated with schizophrenia, major depressive disorder and bipolar disorder in the Han Chinese population. Wen Z, et al. J Affect Disord, 2016 Apr. PMID 26828755
    5. Increased CSF neurogranin concentration is specific to Alzheimer disease. Wellington H, et al. Neurology, 2016 Mar 1. PMID 26826204, Free PMC Article

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CSF neurogranin levels as a biomarker in Alzheimer's disease and frontotemporal lobar degeneration: a cross-sectional analysis.
      Title: CSF neurogranin levels as a biomarker in Alzheimer's disease and frontotemporal lobar degeneration: a cross-sectional analysis.
    2. Neurogranin expression regulates mitochondrial function and redox balance in endothelial cells.
      Title: Neurogranin expression regulates mitochondrial function and redox balance in endothelial cells.
    3. The diagnostic and prognostic value of serum neurogranin in acute ischemic stroke.
      Title: The diagnostic and prognostic value of serum neurogranin in acute ischemic stroke.
    4. Increased levels of the synaptic proteins PSD-95, SNAP-25, and neurogranin in the cerebrospinal fluid of patients with Alzheimer's disease.
      Title: Increased levels of the synaptic proteins PSD-95, SNAP-25, and neurogranin in the cerebrospinal fluid of patients with Alzheimer's disease.
    5. Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy Subjects and AD Patients.
      Title: Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy Subjects and AD Patients.
    6. Neurogranin as a Novel Biomarker in Alzheimer's Disease.
      Title: Neurogranin as a Novel Biomarker in Alzheimer's Disease.
    7. Interrelations of Alzheimer s disease candidate biomarkers neurogranin, fatty acid-binding protein 3 and ferritin to neurodegeneration and neuroinflammation.
      Title: Interrelations of Alzheimer´s disease candidate biomarkers neurogranin, fatty acid-binding protein 3 and ferritin to neurodegeneration and neuroinflammation.
    8. The role of synaptic biomarkers in the spectrum of neurodegenerative diseases.
      Title: The role of synaptic biomarkers in the spectrum of neurodegenerative diseases.
    9. Molecular forms of neurogranin in cerebrospinal fluid.
      Title: Molecular forms of neurogranin in cerebrospinal fluid.
    10. Cerebrospinal fluid levels of neurogranin in Parkinsonian disorders.
      Title: Cerebrospinal fluid levels of neurogranin in Parkinsonian disorders.
    Submit: New GeneRIF Correction See all GeneRIFs (49)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common variants conferring risk of schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    neurogranin
    Names
    calmodulin-binding protein
    neurogranin (protein kinase C substrate, RC3)
    protein kinase C substrate

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001126181.2 → NP_001119653.1  neurogranin

      See identical proteins and their annotated locations for NP_001119653.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice acceptor site in a 3'UTR exon.
      Source sequence(s)
      AP000866, BC002835, BM923818, DB474181
      Consensus CDS
      CCDS8451.1
      UniProtKB/Swiss-Prot
      Q92686
      Related
      ENSP00000399591.1, ENST00000412681.2
      Conserved Domains (1) summary
      smart00015
      Location:32 → 47
      IQ; Calmodulin-binding motif

    2. NM_006176.3 → NP_006167.1  neurogranin

      See identical proteins and their annotated locations for NP_006167.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate splice acceptor site in a 3'UTR exon.
      Source sequence(s)
      AP000866, BC002835, DB474181, Y09689
      Consensus CDS
      CCDS8451.1
      UniProtKB/Swiss-Prot
      Q92686
      Related
      ENSP00000284292.5, ENST00000284292.11
      Conserved Domains (1) summary
      smart00015
      Location:32 → 47
      IQ; Calmodulin-binding motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      124739942..124747210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      124768605..124775873
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92686.1 GenPept UniProtKB/Swiss-Prot:Q92686

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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