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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

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Chemical Information
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Research Materials
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