Aliases for SHISA6 Gene

Aliases for SHISA6 Gene

  • Shisa Family Member 6 2 3 5
  • Protein Shisa-6 3 4
  • Shisa Homolog 6 (Xenopus Laevis) 2
  • Protein Shisa-6 Homolog 3
  • Shisa Homolog 6 3

External Ids for SHISA6 Gene

Previous GeneCards Identifiers for SHISA6 Gene

  • GC17P011086
  • GC17P011046
  • GC17P011144

Summaries for SHISA6 Gene

GeneCards Summary for SHISA6 Gene

SHISA6 (Shisa Family Member 6) is a Protein Coding gene. Diseases associated with SHISA6 include Refractive Error and Degenerative Myopia. An important paralog of this gene is SHISA7.

UniProtKB/Swiss-Prot Summary for SHISA6 Gene

  • Involved in maintenance of high-frequency synaptic transmission at hippocampal CA3-CA1 synapses. Regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression. May play a role in self-renewal and differentiation of spermatogonial stem cells by inhibiting canonical Wnt signaling pathway.

Additional gene information for SHISA6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SHISA6 Gene

Genomics for SHISA6 Gene

GeneHancer (GH) Regulatory Elements for SHISA6 Gene

Promoters and enhancers for SHISA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J011240 Promoter 1.4 EPDnew Ensembl CraniofacialAtlas 500.7 -0.4 -371 1.9 HDAC2 POLR2A EZH2 SMC3 MXI1 CTCF RAD21 TAF1 TBP ZNF143 ENSG00000285541 SHISA6 piR-34822-132
GH17J011213 Enhancer 0.3 Ensembl 12.2 -28.0 -28013 0.4 SMARCA4 SHISA6 piR-34822-132 ENSG00000285541
GH17J011825 Enhancer 0.4 Ensembl 6 +584.7 584688 0.6 REST STAT1 PKNOX1 SOX6 SHISA6 HSALNG0114600 piR-45035-084 HSALNG0114599 DNAH9
GH17J010755 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 1.8 -484.4 -484387 3.6 ZNF217 TCF12 SKI GATAD2B CTBP1 FOXA2 POLR2A MYC USF1 MBD2 ADPRM TMEM220-AS1 ENSG00000264016 TMEM220 PIRT SHISA6 ENSG00000240813 lnc-TMEM220-3 ENSG00000285220
GH17J011375 Enhancer 0.2 Ensembl 11 +134.6 134588 0.4 SHISA6 piR-50437-267 piR-31534-270
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SHISA6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SHISA6

Genomic Locations for SHISA6 Gene

Genomic Locations for SHISA6 Gene
chr17:11,241,213-11,564,063
(GRCh38/hg38)
Size:
322,851 bases
Orientation:
Plus strand
chr17:11,144,580-11,467,380
(GRCh37/hg19)
Size:
322,801 bases
Orientation:
Plus strand

Genomic View for SHISA6 Gene

Genes around SHISA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHISA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHISA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHISA6 Gene

Proteins for SHISA6 Gene

  • Protein details for SHISA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZSJ9-SHSA6_HUMAN
    Recommended name:
    Protein shisa-6
    Protein Accession:
    Q6ZSJ9
    Secondary Accessions:
    • B3KXV5
    • Q4PL63

    Protein attributes for SHISA6 Gene

    Size:
    500 amino acids
    Molecular mass:
    55764 Da
    Quaternary structure:
    • Component of the postsynaptic hippocampal AMPA-type glutamate receptor (AMPAR) complex, at least composed of pore forming AMPAR subunits GRIA1, GRIA2 and GRIA3 and AMPAR auxiliary proteins SHISA6 and SHISA7. Interacts (via PDZ-binding motif) with DLG4/PSD-95 (via PDZ domain); the interaction is direct.
    SequenceCaution:
    • Sequence=BAC86949.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG54617.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SHISA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHISA6 Gene

Post-translational modifications for SHISA6 Gene

  • Glycosylation at Asn32 and Asn59
  • Modification sites at PhosphoSitePlus

Other Protein References for SHISA6 Gene

No data available for DME Specific Peptides for SHISA6 Gene

Domains & Families for SHISA6 Gene

Gene Families for SHISA6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SHISA6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SHISA6 Gene

GenScript: Design optimal peptide antigens:
  • Protein shisa-6 homolog (SHSA6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZSJ9

UniProtKB/Swiss-Prot:

SHSA6_HUMAN :
  • The PDZ-binding motif interacts with PDZ-domain of scaffolding protein DLG4.
  • Belongs to the shisa family.
Domain:
  • The PDZ-binding motif interacts with PDZ-domain of scaffolding protein DLG4.
Family:
  • Belongs to the shisa family.
genes like me logo Genes that share domains with SHISA6: view

Function for SHISA6 Gene

Molecular function for SHISA6 Gene

UniProtKB/Swiss-Prot Function:
Involved in maintenance of high-frequency synaptic transmission at hippocampal CA3-CA1 synapses. Regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression. May play a role in self-renewal and differentiation of spermatogonial stem cells by inhibiting canonical Wnt signaling pathway.

Phenotypes From GWAS Catalog for SHISA6 Gene

Gene Ontology (GO) - Molecular Function for SHISA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030165 PDZ domain binding IEA --
GO:0035255 ionotropic glutamate receptor binding ISS --
genes like me logo Genes that share ontologies with SHISA6: view
genes like me logo Genes that share phenotypes with SHISA6: view

miRNA for SHISA6 Gene

miRTarBase miRNAs that target SHISA6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHISA6 Gene

Localization for SHISA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHISA6 Gene

Membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic density.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHISA6 gene
Compartment Confidence
plasma membrane 4
extracellular 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SHISA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014069 postsynaptic density ISS,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0032281 AMPA glutamate receptor complex IBA 21873635
genes like me logo Genes that share ontologies with SHISA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SHISA6 Gene

Pathways & Interactions for SHISA6 Gene

PathCards logo

SuperPathways for SHISA6 Gene

No Data Available

Interacting Proteins for SHISA6 Gene

;

Gene Ontology (GO) - Biological Process for SHISA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis ISS --
GO:0016055 Wnt signaling pathway IEA --
GO:0048172 regulation of short-term neuronal synaptic plasticity IBA 21873635
GO:0090090 negative regulation of canonical Wnt signaling pathway ISS --
GO:0098962 regulation of postsynaptic neurotransmitter receptor activity IEA --
genes like me logo Genes that share ontologies with SHISA6: view

No data available for Pathways by source and SIGNOR curated interactions for SHISA6 Gene

Drugs & Compounds for SHISA6 Gene

No Compound Related Data Available

Transcripts for SHISA6 Gene

mRNA/cDNA for SHISA6 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHISA6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: -
SP3: - -

Relevant External Links for SHISA6 Gene

GeneLoc Exon Structure for
SHISA6

Expression for SHISA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SHISA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SHISA6 Gene

This gene is overexpressed in Brain - Hippocampus (x7.5), Brain - Cerebellum (x5.5), and Brain - Spinal cord (cervical c-1) (x4.2).

Protein differential expression in normal tissues from HIPED for SHISA6 Gene

This gene is overexpressed in Platelet (31.3), Tlymphocyte (28.5), and Heart (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SHISA6 Gene



Protein tissue co-expression partners for SHISA6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SHISA6

SOURCE GeneReport for Unigene cluster for SHISA6 Gene:

Hs.592124

mRNA Expression by UniProt/SwissProt for SHISA6 Gene:

Q6ZSJ9-SHSA6_HUMAN
Tissue specificity: Expressed in the developing ventral mesencephalon.

Evidence on tissue expression from TISSUES for SHISA6 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with SHISA6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SHISA6 Gene

Orthologs for SHISA6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SHISA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHISA6 31 30
  • 99.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SHISA6 30
  • 93.13 (n)
dog
(Canis familiaris)
Mammalia SHISA6 31
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shisa6 30
  • 89.45 (n)
mouse
(Mus musculus)
Mammalia Shisa6 17 31 30
  • 89.4 (n)
oppossum
(Monodelphis domestica)
Mammalia SHISA6 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHISA6 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SHISA6 31 30
  • 78.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia shisa6 30
  • 70.09 (n)
zebrafish
(Danio rerio)
Actinopterygii SHISA6 (3 of 3) 31
  • 48 (a)
OneToMany
CABZ01100326.1 31
  • 47 (a)
OneToMany
SHISA6 (1 of 3) 31
  • 47 (a)
OneToMany
Species where no ortholog for SHISA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SHISA6 Gene

ENSEMBL:
Gene Tree for SHISA6 (if available)
TreeFam:
Gene Tree for SHISA6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SHISA6: view image

Paralogs for SHISA6 Gene

Paralogs for SHISA6 Gene

(1) SIMAP similar genes for SHISA6 Gene using alignment to 2 proteins:

  • SHSA6_HUMAN
  • V9GZ25_HUMAN
genes like me logo Genes that share paralogs with SHISA6: view

Variants for SHISA6 Gene

Additional dbSNP identifiers (rs#s) for SHISA6 Gene

Structural Variations from Database of Genomic Variants (DGV) for SHISA6 Gene

Variant ID Type Subtype PubMed ID
dgv5447n54 CNV loss 21841781
esv1972844 CNV deletion 18987734
esv2073057 CNV deletion 18987734
esv22264 CNV gain 19812545
esv22543 CNV gain+loss 19812545
esv22761 CNV loss 19812545
esv25916 CNV gain 19812545
esv2674601 CNV deletion 23128226
esv2715644 CNV deletion 23290073
esv2715645 CNV deletion 23290073
esv2715646 CNV deletion 23290073
esv2715647 CNV deletion 23290073
esv2715648 CNV deletion 23290073
esv2715649 CNV deletion 23290073
esv3310241 CNV mobile element insertion 20981092
esv33600 CNV gain 17666407
esv3447953 CNV insertion 20981092
esv3554136 CNV deletion 23714750
esv3554139 CNV deletion 23714750
esv3639951 CNV gain 21293372
esv3639952 CNV loss 21293372
esv3639953 CNV loss 21293372
esv3639954 CNV loss 21293372
nsv1057473 CNV gain 25217958
nsv1070809 CNV deletion 25765185
nsv1070810 CNV deletion 25765185
nsv112054 CNV insertion 16902084
nsv1134599 CNV deletion 24896259
nsv1136228 CNV deletion 24896259
nsv154 CNV deletion 15895083
nsv1980 CNV deletion 18451855
nsv1981 CNV deletion 18451855
nsv433304 CNV loss 18776910
nsv457669 CNV loss 19166990
nsv457670 CNV loss 19166990
nsv472126 CNV novel sequence insertion 20440878
nsv475317 CNV novel sequence insertion 20440878
nsv483036 CNV loss 15286789
nsv498868 CNV loss 21111241
nsv510698 CNV deletion 20534489
nsv518545 CNV gain 19592680
nsv519168 CNV loss 19592680
nsv523923 CNV loss 19592680
nsv526919 CNV loss 19592680
nsv574359 CNV loss 21841781
nsv574360 CNV loss 21841781
nsv574361 CNV loss 21841781
nsv574362 CNV loss 21841781
nsv574363 CNV loss 21841781
nsv574369 CNV loss 21841781
nsv820333 CNV deletion 20802225
nsv833371 CNV gain 17160897
nsv953830 CNV deletion 24416366

Variation tolerance for SHISA6 Gene

Gene Damage Index Score: 2.41; 42.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHISA6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHISA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SHISA6 Gene

Disorders for SHISA6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SHISA6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
refractive error
  • refractive errors
degenerative myopia
  • degenerative progressive high myopia
myopia
  • near vision
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SHISA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SHISA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHISA6 Gene

Publications for SHISA6 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. (PMID: 24262325) Dichgans M … International Stroke Genetics Consortium (Stroke 2014) 3 54
  4. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G … Rudan I (PLoS genetics 2013) 3 54
  5. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. (PMID: 23396134) Verhoeven VJ … Hammond CJ (Nature genetics 2013) 3 54

Products for SHISA6 Gene

Sources for SHISA6 Gene