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

Gene ID: 100131897, updated on 11-Jun-2021

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
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
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Genomic context

See INSYN2B in Genome Data Viewer
Location:
5q35.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (169861303..169980508, complement)
105.20201022 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 spindle apparatus coiled-coil protein 1 Neighboring gene dedicator of cytokinesis 2 Neighboring gene microRNA 378e 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

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

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_001129891.3NP_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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    169861303..169980508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam15265
    Location:3473
    FAM196; FAM196 family
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