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    INSYN2A inhibitory synaptic factor 2A [ Homo sapiens (human) ]

    Gene ID: 642938, updated on 10-Dec-2024

    Summary

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    Official Symbol
    INSYN2Aprovided by HGNC
    Official Full Name
    inhibitory synaptic factor 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:33859
    See related
    Ensembl:ENSG00000188916 MIM:617129; AllianceGenome:HGNC:33859
    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
    INSYN2; FAM196A; C10orf141
    Summary
    Predicted to be involved in inhibitory postsynaptic potential. Predicted to be located in synapse. Predicted to be active in GABA-ergic synapse and postsynaptic density. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See INSYN2A in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (127135430..127196591, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (128029007..128090188, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (128933694..128994855, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:128798279-128799478 Neighboring gene uncharacterized LOC107984059 Neighboring gene uncharacterized LOC105378552 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:128868600-128869799 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:128936224-128937423 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:128946487-128947686 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:129078632-129079159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4196 Neighboring gene uncharacterized LOC105378551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129190073-129190574 Neighboring gene uncharacterized LOC124902524

    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. Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype. Cherik F, et al. Eur J Med Genet, 2021 Sep. PMID 34252586
    2. Identification of an elaborate complex mediating postsynaptic inhibition. Uezu A, et al. Science, 2016 Sep 9. PMID 27609886, Free PMC Article
    3. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article
    4. Cell fixation improves performance of in situ crosslinking mass spectrometry while preserving cellular ultrastructure. Michael ARM, et al. Nat Commun, 2024 Oct 2. PMID 39358380, Free PMC Article
    5. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.
      Title: Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.
    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

    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

    Clone Names

    • FLJ45557

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inhibitory postsynaptic potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inhibitory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    inhibitory synaptic factor 2A
    Names
    family with sequence similarity 196 member A
    inhibitory synaptic protein 2
    protein FAM196A

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001039762.3 → NP_001034851.1  inhibitory synaptic factor 2A

      See identical proteins and their annotated locations for NP_001034851.1

      Status: VALIDATED

      Source sequence(s)
      AK127465, AL390920, BC137112
      Consensus CDS
      CCDS31312.1
      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2
      Related
      ENSP00000429763.1, ENST00000522781.6
      Conserved Domains (1) summary
      pfam15265
      Location:1 → 479
      FAM196; FAM196 family

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      127135430..127196591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252694.5 → XP_005252751.1  inhibitory synaptic factor 2A isoform X1

      See identical proteins and their annotated locations for XP_005252751.1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2
      Conserved Domains (1) summary
      pfam15265
      Location:1 → 479
      FAM196; FAM196 family

    2. XM_017016539.3 → XP_016872028.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2
      Conserved Domains (1) summary
      pfam15265
      Location:1 → 479
      FAM196; FAM196 family

    3. XM_047425638.1 → XP_047281594.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2

    4. XM_047425636.1 → XP_047281592.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2

    5. XM_047425637.1 → XP_047281593.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2

    6. XM_017016537.3 → XP_016872026.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2
      Conserved Domains (1) summary
      pfam15265
      Location:1 → 479
      FAM196; FAM196 family

    7. XM_017016541.2 → XP_016872030.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2
      Conserved Domains (1) summary
      pfam15265
      Location:1 → 479
      FAM196; FAM196 family

    8. XM_047425639.1 → XP_047281595.1  inhibitory synaptic factor 2A isoform X2

      Related
      ENSP00000428730.1, ENST00000424811.2

    9. XM_047425634.1 → XP_047281590.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2

    10. XM_047425635.1 → XP_047281591.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2

    11. XM_017016543.2 → XP_016872032.1  inhibitory synaptic factor 2A isoform X3

      Conserved Domains (1) summary
      pfam15265
      Location:1 → 395
      FAM196; FAM196 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      128029007..128090188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366566.1 → XP_054222541.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2

    2. XM_054366565.1 → XP_054222540.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2

    3. XM_054366564.1 → XP_054222539.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2

    4. XM_054366563.1 → XP_054222538.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2

    5. XM_054366567.1 → XP_054222542.1  inhibitory synaptic factor 2A isoform X2

    6. XM_054366562.1 → XP_054222537.1  inhibitory synaptic factor 2A isoform X1

      UniProtKB/Swiss-Prot
      B2RNT4, B7ZME7, Q6ZSG2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZSG2.1 GenPept UniProtKB/Swiss-Prot:Q6ZSG2

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