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

Gene ID: 100131897, updated on 2-Nov-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
Summary
Predicted to be involved in inhibitory postsynaptic potential. Predicted to be active in postsynaptic density. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 3.1), salivary gland (RPKM 1.3) and 8 other tissues See more
Orthologs
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Genomic context

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See INSYN2B in Genome Data Viewer
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)
RS_2024_09 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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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

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

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Molecular Biology Databases
Research Materials