Aliases for INSYN2A Gene

Aliases for INSYN2A Gene

  • Inhibitory Synaptic Factor 2A 2 3 4 5
  • Family With Sequence Similarity 196 Member A 2 3
  • Inhibitory Synaptic Protein 2 2 3
  • C10orf141 3 4
  • FAM196A 3 4
  • INSYN2 3 4
  • Family With Sequence Similarity 196, Member A 2
  • Chromosome 10 Open Reading Frame 141 2
  • Protein FAM196A 3
  • FLJ45557 2
  • INSYN2A 5
  • InSyn2 4

External Ids for INSYN2A Gene

Previous HGNC Symbols for INSYN2A Gene

  • C10orf141
  • FAM196A
  • INSYN2

Summaries for INSYN2A Gene

GeneCards Summary for INSYN2A Gene

INSYN2A (Inhibitory Synaptic Factor 2A) is a Protein Coding gene. An important paralog of this gene is INSYN2B.

UniProtKB/Swiss-Prot Summary for INSYN2A Gene

  • Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INSYN2A Gene

Genomics for INSYN2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INSYN2A 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
GH10J127196 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 255.9 +0.4 390 2.4 CTCF ZIC2 ZNF513 SIN3A RAD21 ZNF2 SCRT1 HDAC2 ZNF398 ZNF561 INSYN2A HSALNG0081468 DOCK1
GH10J127147 Enhancer 1 FANTOM5 ENCODE dbSUPER 18.3 +47.5 47547 3.6 EP300 ZNF316 FOSL1 JUND NFE2 MAFK SP1 BHLHE40 NFE2L2 FOS piR-48264 INSYN2A ENSG00000232935 lnc-C10orf90-3 DOCK1
GH10J127144 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +51.0 50986 1.3 JUND MAFK EP300 CEBPB FOS piR-48264 INSYN2A piR-51796 lnc-C10orf90-3 DOCK1
GH10J127278 Enhancer 1 Ensembl ENCODE 15.8 -81.7 -81686 3.4 CEBPA CTCF HOMEZ KDM6A THAP11 RAD51 FOXA2 SMAD4 MAFF SAP130 INSYN2A lnc-FAM196A-3 piR-33624 NPS DOCK1
GH10J127163 Enhancer 0.3 Ensembl 19 +33.0 32990 1.2 ELF1 ZNF384 INSYN2A lnc-C10orf90-3 piR-48264 DOCK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INSYN2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INSYN2A

Genomic Locations for INSYN2A Gene

Latest Assembly
chr10:127,135,426-127,196,591
(GRCh38/hg38)
Size:
61,166 bases
Orientation:
Minus strand

Previous Assembly
chr10:128,933,694-128,994,855
(GRCh37/hg19 by Entrez Gene)
Size:
61,162 bases
Orientation:
Minus strand

chr10:128,933,694-128,994,422
(GRCh37/hg19 by Ensembl)
Size:
60,729 bases
Orientation:
Minus strand

Genomic View for INSYN2A Gene

Genes around INSYN2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INSYN2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INSYN2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INSYN2A Gene

Proteins for INSYN2A Gene

  • Protein details for INSYN2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZSG2-INSY2_HUMAN
    Recommended name:
    Inhibitory synaptic factor 2A
    Protein Accession:
    Q6ZSG2
    Secondary Accessions:
    • B2RNT4
    • B7ZME7

    Protein attributes for INSYN2A Gene

    Size:
    479 amino acids
    Molecular mass:
    52909 Da
    Quaternary structure:
    • Interacts with GPHN.

    Alternative splice isoforms for INSYN2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INSYN2A Gene

Post-translational modifications for INSYN2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for INSYN2A Gene

Domains & Families for INSYN2A Gene

Gene Families for INSYN2A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for INSYN2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for INSYN2A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM196A (F196A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZSG2

UniProtKB/Swiss-Prot:

INSY2_HUMAN :
  • Belongs to the INSYN2 family.
Family:
  • Belongs to the INSYN2 family.
genes like me logo Genes that share domains with INSYN2A: view

Function for INSYN2A Gene

Molecular function for INSYN2A Gene

UniProtKB/Swiss-Prot Function:
Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code.

Phenotypes From GWAS Catalog for INSYN2A Gene

Gene Ontology (GO) - Molecular Function for INSYN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with INSYN2A: view

Phenotypes for INSYN2A Gene

genes like me logo Genes that share phenotypes with INSYN2A: view

miRNA for INSYN2A Gene

miRTarBase miRNAs that target INSYN2A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSYN2A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for INSYN2A Gene

Localization for INSYN2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSYN2A Gene

Cell junction, synapse, postsynaptic density.

Gene Ontology (GO) - Cellular Components for INSYN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014069 postsynaptic density IBA,ISS --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with INSYN2A: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for INSYN2A Gene

Pathways & Interactions for INSYN2A Gene

PathCards logo

SuperPathways for INSYN2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for INSYN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060080 inhibitory postsynaptic potential IBA,ISS --
genes like me logo Genes that share ontologies with INSYN2A: view

No data available for Pathways by source and SIGNOR curated interactions for INSYN2A Gene

Drugs & Compounds for INSYN2A Gene

No Compound Related Data Available

Transcripts for INSYN2A Gene

mRNA/cDNA for INSYN2A Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSYN2A

Alternative Splicing Database (ASD) splice patterns (SP) for INSYN2A Gene

No ASD Table

Relevant External Links for INSYN2A Gene

GeneLoc Exon Structure for
INSYN2A

Expression for INSYN2A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INSYN2A

SOURCE GeneReport for Unigene cluster for INSYN2A Gene:

Hs.613882

Evidence on tissue expression from TISSUES for INSYN2A Gene

  • Nervous system(4.1)
  • Lung(4)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 INSYN2A Gene

Orthologs for INSYN2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for INSYN2A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM196A 30 31
  • 99.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM196A 30 31
  • 83.44 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam196a 30 31
  • 83.12 (n)
OneToOne
Insyn2a 17
Rat
(Rattus norvegicus)
Mammalia Fam196a 30
  • 82.77 (n)
Dog
(Canis familiaris)
Mammalia FAM196A 30 31
  • 80.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM196A 31
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM196A 30 31
  • 72.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM196A 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam196a 30
  • 66.1 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100333552 30
  • 57.44 (n)
FAM196A (3 of 3) 31
  • 49 (a)
OneToMany
fam196ab 31
  • 45 (a)
OneToMany
FAM196A (1 of 3) 31
  • 37 (a)
OneToMany
Species where no ortholog for INSYN2A 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for INSYN2A Gene

ENSEMBL:
Gene Tree for INSYN2A (if available)
TreeFam:
Gene Tree for INSYN2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INSYN2A: view image

Paralogs for INSYN2A Gene

Paralogs for INSYN2A Gene

genes like me logo Genes that share paralogs with INSYN2A: view

Variants for INSYN2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INSYN2A Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs11594560 - p.Ala147Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for INSYN2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for INSYN2A Gene

Variant ID Type Subtype PubMed ID
dgv1418n54 CNV loss 21841781
esv24572 CNV gain 19812545
esv2759789 CNV gain 17122850
esv3624875 CNV loss 21293372
nsv1045509 CNV gain 25217958
nsv1147260 CNV insertion 26484159
nsv477772 CNV novel sequence insertion 20440878
nsv511443 CNV gain 21212237
nsv821275 CNV deletion 20802225

Variation tolerance for INSYN2A Gene

Residual Variation Intolerance Score: 41.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.81; 66.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INSYN2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
INSYN2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSYN2A Gene

Disorders for INSYN2A Gene

Additional Disease Information for INSYN2A

No disorders were found for INSYN2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for INSYN2A Gene

Publications for INSYN2A Gene

  1. Identification of an elaborate complex mediating postsynaptic inhibition. (PMID: 27609886) Uezu A … Soderling SH (Science (New York, N.Y.) 2016) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. (PMID: 28986522) Antoniali G … Tell G (Nature communications 2017) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for INSYN2A Gene

Sources for INSYN2A Gene