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    INSYN2B inhibitory synaptic factor family member 2B [ Homo sapiens (human) ]

    Gene ID: 100131897, updated on 27-Aug-2024

    Summary

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    Official Symbol
    INSYN2Bprovided by HGNC
    Official Full Name
    inhibitory synaptic factor family member 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:37271
    See related
    Ensembl:ENSG00000204767 AllianceGenome:HGNC:37271
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C5orf57; FAM196B
    Expression
    Biased expression in brain (RPKM 3.1), salivary gland (RPKM 1.3) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q35.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (169861303..169980495, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (170396711..170518930, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (169288307..169407499, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377714 Neighboring gene uncharacterized LOC105377715 Neighboring gene RNA, U6 small nuclear 477, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:169010404-169011404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23593 Neighboring gene spindle apparatus coiled-coil protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23596 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:169122482-169123681 Neighboring gene dedicator of cytokinesis 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23601 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:169235189-169235766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23603 Neighboring gene NANOG hESC enhancer GRCh37_chr5:169334064-169334793 Neighboring gene Sharpr-MPRA regulatory region 8772 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:169403516-169404715 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:169407449-169408187 Neighboring gene microRNA 378e Neighboring gene NANOG hESC enhancer GRCh37_chr5:169536441-169536994 Neighboring gene forkhead box I1

    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 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. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
    2. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181
    3. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. Wang B, et al. EBioMedicine, 2019 Mar. PMID 30745168, Free PMC Article
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    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)

    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

    Process Evidence Code Pubs
    involved_in inhibitory postsynaptic potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein INSYN2B
    Names
    family with sequence similarity 196 member B
    protein FAM196B

    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_001129891.3 → NP_001123363.1  protein INSYN2B

      See identical proteins and their annotated locations for NP_001123363.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants, 1 and 2, encode the same protein.
      Source sequence(s)
      AC008449, AI889725, AK055998
      Consensus CDS
      CCDS47336.1
      UniProtKB/Swiss-Prot
      A6NMK8
      Related
      ENSP00000366582.3, ENST00000377365.4
      Conserved Domains (1) summary
      pfam15265
      Location:3 → 535
      FAM196; FAM196 family

    2. NM_001346304.2 → NP_001333233.1  protein INSYN2B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants, 1 and 2, encode the same protein.
      Source sequence(s)
      AC008449, AC008648, AI889725
      Consensus CDS
      CCDS47336.1
      UniProtKB/Swiss-Prot
      A6NMK8

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      169861303..169980495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416585.1 → XP_047272541.1  protein INSYN2B isoform X1

    2. XM_017008908.2 → XP_016864397.1  protein INSYN2B isoform X1

      Conserved Domains (1) summary
      pfam15265
      Location:3 → 473
      FAM196; FAM196 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      170396711..170518930 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351373.1 → XP_054207348.1  protein INSYN2B isoform X1

    2. XM_054351372.1 → XP_054207347.1  protein INSYN2B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NMK8.1 GenPept UniProtKB/Swiss-Prot:A6NMK8

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials