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    SHISA8 shisa family member 8 [ Homo sapiens (human) ]

    Gene ID: 440829, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SHISA8provided by HGNC
    Official Full Name
    shisa family member 8provided by HGNC
    Primary source
    HGNC:HGNC:18351
    See related
    Ensembl:ENSG00000234965 MIM:617329; AllianceGenome:HGNC:18351
    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
    Orf26; C22orf17
    Summary
    Predicted to be involved in regulation of AMPA receptor activity and regulation of short-term neuronal synaptic plasticity. Predicted to be integral component of membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; postsynaptic density; and postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 5.8), brain (RPKM 5.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41909543..41915074, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42388416..42393946, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42305547..42311078, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42226556-42227096 Neighboring gene SREBF2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42227097-42227636 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42228578-42229234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42231025-42231526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42231527-42232026 Neighboring gene sterol regulatory element binding transcription factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42242468-42243268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:42258655-42259155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42303627-42304294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13802 Neighboring gene microRNA 33a Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42310379-42311304 Neighboring gene uncharacterized LOC124905125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42315058-42315561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19142 Neighboring gene TNF receptor superfamily member 13C Neighboring gene microRNA 378i

    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. The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis. Funato Y, et al. Dev Cell, 2020 Nov 23. PMID 32918875
    2. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    3. A High-Density Human Mitochondrial Proximity Interaction Network. Antonicka H, et al. Cell Metab, 2020 Sep 1. PMID 32877691
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of AMPA receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of short-term neuronal synaptic plasticity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendritic spine membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein shisa-8
    Names
    CTA-250D10.17
    putative protein shisa-8
    shisa homolog 8

    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_001207020.3 → NP_001193949.1  protein shisa-8 isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS74872.1
      UniProtKB/Swiss-Prot
      A0A087WXQ4, B8ZZ34
      Related
      ENSP00000481203.1, ENST00000621082.2
      Conserved Domains (1) summary
      pfam13908
      Location:57 → 177
      Shisa; Wnt and FGF inhibitory regulator

    2. NM_001353438.2 → NP_001340367.1  protein shisa-8 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      Z99716
      Conserved Domains (2) summary
      pfam13908
      Location:57 → 177
      Shisa; Wnt and FGF inhibitory regulator
      cl26464
      Location:215 → 452
      Atrophin-1; Atrophin-1 family

    3. NM_001353439.2 → NP_001340368.1  protein shisa-8 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      Z99716
      Conserved Domains (1) summary
      pfam13908
      Location:57 → 177
      Shisa; Wnt and FGF inhibitory regulator

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41909543..41915074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724256.5 → XP_006724319.1  protein shisa-8 isoform X1

      Conserved Domains (1) summary
      pfam13908
      Location:57 → 176
      Shisa; Wnt and FGF inhibitory regulator

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42388416..42393946 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B8ZZ34.3 GenPept UniProtKB/Swiss-Prot:B8ZZ34

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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