U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 100131897, updated on 1-Mar-2024

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See INSYN2B in Genome Data Viewer
Location:
5q35.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (169861303..169980495, complement)
RS_2023_10 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

Expression

  • 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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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

NCBI Reference Sequences (RefSeq)

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_001129891.3NP_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:3535
    FAM196; FAM196 family
  2. NM_001346304.2NP_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_2023_10

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_047416585.1XP_047272541.1  protein INSYN2B isoform X1

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

    Conserved Domains (1) summary
    pfam15265
    Location:3473
    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_054351373.1XP_054207348.1  protein INSYN2B isoform X1

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