In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Ma... See more...

Aliases for INSC Gene

Aliases for INSC Gene

  • INSC Spindle Orientation Adaptor Protein 2 3 5
  • Inscuteable Spindle Orientation Adaptor Protein 2 3
  • Protein Inscuteable Homolog 3 4
  • Inscuteable Homolog (Drosophila) 2
  • Inscuteable Homolog 3
  • INSC 5

External Ids for INSC Gene

Previous GeneCards Identifiers for INSC Gene

  • GC11P014817

Summaries for INSC Gene

Entrez Gene Summary for INSC Gene

  • In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008]

GeneCards Summary for INSC Gene

INSC (INSC Spindle Orientation Adaptor Protein) is a Protein Coding gene. Diseases associated with INSC include Purulent Labyrinthitis and Neuronopathy, Distal Hereditary Motor, Type Iia. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary for INSC Gene

  • May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex (PubMed:16458856). Involved in spindle orientation during mitosis. May regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium (By similarity).

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

Genomics for INSC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INSC 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
GH11J015114 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 609.7 +3.6 3582 1.2 EZH2 RAD21 CTCF INSC HSALNG0082850 LOC102724957
GH11J015112 Enhancer 0.3 ENCODE 609.3 +1.0 1026 0.6 ZSCAN4 INSC HSALNG0082850 LOC102724957
GH11J015075 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 10.3 -37.0 -37015 2.4 CTCF PRDM10 ZNF629 KDM1A ZNF692 ZNF143 ZIC2 PATZ1 REST RAD21 CALCB COPB1 CYP2R1 CALCA INSC lnc-INSC-4 piR-36668-002
GH11J015194 Enhancer 0.8 Ensembl ENCODE 20.4 +84.5 84485 2.2 SP1 GABPA YY1 JUND RAD21 HNF4A RXRA NFIA MAX REST INSC NONHSAG007732.2 HSALNG0082850 LOC102724957
GH11J015577 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.7 +467.5 467485 7 CEBPG KDM1A JUND REST NR2C1 SP1 HDAC1 TCF12 EP300 CEBPB lnc-SOX6-6 INSC ENSG00000253072 ENSG00000254789 piR-55985-023 LINC02751 LOC102724957 LOC105376568
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INSC on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the INSC gene promoter:
  • ATF
  • Evi-1
  • GR
  • GR-alpha
  • LCR-F1
  • Sox9

Genomic Locations for INSC Gene

Genomic Locations for INSC Gene
chr11:15,111,416-15,269,675
(GRCh38/hg38)
Size:
158,260 bases
Orientation:
Plus strand
chr11:15,133,970-15,268,754
(GRCh37/hg19)
Size:
134,785 bases
Orientation:
Plus strand

Genomic View for INSC Gene

Genes around INSC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for INSC Gene

Proteins for INSC Gene

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

    Protein Symbol:
    Q1MX18-INSC_HUMAN
    Recommended name:
    Protein inscuteable homolog
    Protein Accession:
    Q1MX18
    Secondary Accessions:
    • A0PJX5
    • Q1MX19
    • Q3C1V6
    • Q4AC95
    • Q4AC96
    • Q4AC97
    • Q4AC98

    Protein attributes for INSC Gene

    Size:
    579 amino acids
    Molecular mass:
    63469 Da
    Quaternary structure:
    • Interacts with ALS2CR19/PAR3-beta and F2RL2/PAR3 (PubMed:16458856). Interacts with GPSM1/AGS3 and GPSM2/LGN (via TPR repeat region) (PubMed:16458856, PubMed:22074847). Identified in a complex with GPSM2 and F2RL2 (PubMed:16458856).

    Three dimensional structures from OCA and Proteopedia for INSC Gene

    Alternative splice isoforms for INSC Gene

neXtProt entry for INSC Gene

Post-translational modifications for INSC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for INSC Gene

Domains & Families for INSC Gene

Gene Families for INSC Gene

Protein Domains for INSC Gene

Suggested Antigen Peptide Sequences for INSC Gene

GenScript: Design optimal peptide antigens:
  • Protein inscuteable homolog (INSC_HUMAN)
genes like me logo Genes that share domains with INSC: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for INSC Gene

Function for INSC Gene

Molecular function for INSC Gene

UniProtKB/Swiss-Prot Function:
May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex (PubMed:16458856). Involved in spindle orientation during mitosis. May regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium (By similarity).

Phenotypes From GWAS Catalog for INSC Gene

Gene Ontology (GO) - Molecular Function for INSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16458856
GO:0019904 protein domain specific binding IPI 22074847
GO:0030674 protein binding, bridging IPI 16458856
genes like me logo Genes that share ontologies with INSC: view
genes like me logo Genes that share phenotypes with INSC: view

Animal Models for INSC Gene

MGI Knock Outs for INSC:
  • Insc Insc<tm1.2Cayo>

Animal Model Products

CRISPR Products

miRNA for INSC Gene

miRTarBase miRNAs that target INSC

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSC

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

Localization for INSC Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSC Gene

Cytoplasm. Cytoplasm, cell cortex. Note=Uniformly distributed in the cytoplasm during interphase. During metaphase, detected in the cell cortex, adjacent to the mitotic spindle poles. {ECO:0000269 PubMed:22074847}.

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 INSC gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
extracellular 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for INSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IMP 22074847
GO:0005938 colocalizes_with cell cortex IMP 22074847
GO:0032991 protein-containing complex IMP 22074847
genes like me logo Genes that share ontologies with INSC: view

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

Pathways & Interactions for INSC Gene

PathCards logo

SuperPathways for INSC Gene

No Data Available

Gene Ontology (GO) - Biological Process for INSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0008356 asymmetric cell division IEA --
GO:0030154 cell differentiation IEA --
GO:0031647 regulation of protein stability IDA 22074847
genes like me logo Genes that share ontologies with INSC: view

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

Drugs & Compounds for INSC Gene

No Compound Related Data Available

Transcripts for INSC Gene

mRNA/cDNA for INSC Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSC

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for INSC Gene

GeneLoc Exon Structure for
INSC

Expression for INSC Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Nerve - Tibial (x9.9) and Colon - Sigmoid (x4.4).

Protein differential expression in normal tissues from HIPED for INSC Gene

This gene is overexpressed in Gallbladder (34.6), Pancreatic juice (18.4), and Platelet (15.7).

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



Protein tissue co-expression partners for INSC Gene

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

SOURCE GeneReport for Unigene cluster for INSC Gene:

Hs.591997

mRNA Expression by UniProt/SwissProt for INSC Gene:

Q1MX18-INSC_HUMAN
Tissue specificity: Isoform 1 is expressed in various tissues with stronger expression in liver, kidney and small intestine. Isoform 2 is abundantly expressed in small intestine and to a lower extent in lung and pancreas.

Evidence on tissue expression from TISSUES for INSC Gene

  • Intestine(4.4)
  • Kidney(4.3)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with INSC: view

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

Orthologs for INSC Gene

This gene was present in the common ancestor of animals.

Orthologs for INSC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia INSC 30 31
  • 99.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia INSC 30 31
  • 90.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia INSC 30 31
  • 90.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Insc 30 17 31
  • 88.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Insc 30
  • 87.45 (n)
Oppossum
(Monodelphis domestica)
Mammalia INSC 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
Chicken
(Gallus gallus)
Aves INSC 30 31
  • 69.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 77 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia insc 30
  • 63.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101885356 30
  • 68.21 (n)
INSC 31
  • 45 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea insc-1 31
  • 15 (a)
OneToOne
Species where no ortholog for INSC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)

Evolution for INSC Gene

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

Paralogs for INSC Gene

No data available for Paralogs for INSC Gene

Variants for INSC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INSC Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
781218 Benign: not provided 15,200,836(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
rs17507577 - p.Asp333Asn
rs7123855 - p.Gln450Arg

Additional dbSNP identifiers (rs#s) for INSC Gene

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

Variant ID Type Subtype PubMed ID
dgv1060n100 CNV gain 25217958
dgv325e212 CNV loss 25503493
esv3578261 CNV gain 25503493
esv3579380 CNV loss 25503493
esv3891932 CNV gain 25118596
nsv1036474 CNV gain 25217958
nsv477521 CNV novel sequence insertion 20440878
nsv516403 CNV loss 19592680
nsv832072 CNV gain 17160897

Variation tolerance for INSC Gene

Residual Variation Intolerance Score: 95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.82; 79.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INSC Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSC Gene

Disorders for INSC Gene

MalaCards: The human disease database

(5) MalaCards diseases for INSC Gene - From: DISEASES

Disorder Aliases PubMed IDs
purulent labyrinthitis
  • acute suppurative labyrinthitis
neuronopathy, distal hereditary motor, type iia
  • hmn2a
optic disk drusen
  • drusen of optic disc
vitreoretinal dystrophy
  • vitreoretinal dystrophies
cone-rod dystrophy 6
  • retinitis pigmentosa 6
- elite association - COSMIC cancer census association via MalaCards
Search INSC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for INSC

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

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

Publications for INSC Gene

  1. Two forms of human Inscuteable-related protein that links Par3 to the Pins homologues LGN and AGS3. (PMID: 16458856) Izaki T … Sumimoto H (Biochemical and biophysical research communications 2006) 2 3 4
  2. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S … Sun J (Carcinogenesis 2012) 3 41
  3. Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN). (PMID: 22074847) Yuzawa S … Sumimoto H (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4
  4. 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
  5. Identification and characterization of human Inscuteable gene in silico. (PMID: 12469229) Katoh M … Katoh M (International journal of molecular medicine 2003) 3 4

Products for INSC Gene

Sources for INSC Gene