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

Gene ID: 440829, updated on 23-May-2018

Summary

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
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
Expression
Ubiquitous expression in adrenal (RPKM 5.8), brain (RPKM 5.6) and 23 other tissues See more
Orthologs

Genomic context

See SHISA8 in Genome Data Viewer
Location:
22q13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (41906049..41915095, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42305558..42310671, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 134 Neighboring gene sterol regulatory element binding transcription factor 2 Neighboring gene microRNA 33a Neighboring gene TNF receptor superfamily member 13C Neighboring gene microRNA 378i

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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001207020.2NP_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/TrEMBL
    A0A087WXQ4
    Related
    ENSP00000481203.1, ENST00000621082.1
    Conserved Domains (1) summary
    pfam13908
    Location:57177
    Shisa; Wnt and FGF inhibitory regulator
  2. NM_001353438.1NP_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:57177
    Shisa; Wnt and FGF inhibitory regulator
    cl26464
    Location:215452
    Atrophin-1; Atrophin-1 family
  3. NM_001353439.1NP_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:57177
    Shisa; Wnt and FGF inhibitory regulator

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    41906049..41915095 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724256.4XP_006724319.1  putative protein shisa-8 isoform X1

    Conserved Domains (1) summary
    pfam13908
    Location:57177
    Shisa; Wnt and FGF inhibitory regulator

RNA

  1. XR_002958691.1 RNA Sequence

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