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

Gene ID: 642938, updated on 5-Mar-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 active in postsynaptic density. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
10q26.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (127135430..127196591, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (128029007..128090188, complement)
105.20220307 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. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

See all (8) 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)

Genotypes

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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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_2023_10

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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