Aliases for INSM2 Gene

Aliases for INSM2 Gene

  • INSM Transcriptional Repressor 2 2 3 5
  • Insulinoma-Associated Protein 2 3 4
  • Zinc Finger Protein IA-6 3 4
  • Insulinoma-Associated 2 2 3
  • IA-6 2 3
  • Mlt1 2 3
  • IA6 3 4
  • Insulinoma-Associated Protein IA-6 3
  • INSM2 Variant 1 3
  • INSM2 5

External Ids for INSM2 Gene

Previous GeneCards Identifiers for INSM2 Gene

  • GC14P033381
  • GC14P029790
  • GC14P033993
  • GC14P035072
  • GC14P036003
  • GC14P016117

Summaries for INSM2 Gene

GeneCards Summary for INSM2 Gene

INSM2 (INSM Transcriptional Repressor 2) is a Protein Coding gene. Diseases associated with INSM2 include Insulinoma and Bleeding Disorder, Platelet-Type, 17. An important paralog of this gene is INSM1.

UniProtKB/Swiss-Prot Summary for INSM2 Gene

  • May function as a growth suppressor or tumor suppressor in liver cells and in certain neurons.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INSM2 Gene

Genomics for INSM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INSM2 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
GH14J035533 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 250.7 +0.0 37 2.8 BCLAF1 ZNF600 SSRP1 KLF9 CEBPA MXD4 REST KLF11 SIN3A CHD2 ENSG00000259017 HSALNG0100605 INSM2 RALGAPA1 RPS19P3 EAPP lnc-NFKBIA-5
GH14J035558 Enhancer 1 UCNEbase Ensembl ENCODE 11.7 +24.5 24537 1.4 RBM22 TAL1 ZNF652 POLR2A CBFA2T3 INSM2 L13714-123 lnc-NFKBIA-7 RALGAPA1
GH14J035434 Enhancer 0.7 Ensembl 15.3 -98.9 -98863 2.2 IKZF1 NFE2 JUND ATF1 SMARCA4 MEIS2 DPF2 ARID1B SMARCE1 HLF INSM2 RALGAPA1 piR-43105-163 HSALNG0100598 NFKBIA HSALNG0100587 lnc-INSM2-5
GH14J035140 Enhancer 0.9 Ensembl ENCODE 10.3 -393.6 -393618 1.1 ZNF654 KLF9 CEBPA CTCF REST TRIM22 THAP11 FOXA2 RAD21 SMC3 piR-41306-076 INSM2 PPP2R3C FAM177A1 PRORP hsa-miR-5095-128 ENSG00000258790 PSMA6
GH14J035412 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -117.5 -117463 8.2 SP1 ZNF654 ZNF600 SSRP1 CEBPA ZIC2 CTCF REST TRIM22 ZNF639 EAPP RPS19P3 CFL2 RALGAPA1 RNU1-27P SRP54-AS1 INSM2 NFKBIA FAM177A1 BRMS1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INSM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INSM2

Top Transcription factor binding sites by QIAGEN in the INSM2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • ITF-2
  • NRSF form 1
  • NRSF form 2
  • Tal-1beta

Genomic Locations for INSM2 Gene

Latest Assembly
chr14:35,534,164-35,537,054
(GRCh38/hg38)
Size:
2,891 bases
Orientation:
Plus strand

Previous Assembly
chr14:36,003,370-36,006,260
(GRCh37/hg19 by Entrez Gene)
Size:
2,891 bases
Orientation:
Plus strand

chr14:36,003,248-36,006,260
(GRCh37/hg19 by Ensembl)
Size:
3,013 bases
Orientation:
Plus strand

Genomic View for INSM2 Gene

Genes around INSM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INSM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INSM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INSM2 Gene

Proteins for INSM2 Gene

  • Protein details for INSM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T92-INSM2_HUMAN
    Recommended name:
    Insulinoma-associated protein 2
    Protein Accession:
    Q96T92
    Secondary Accessions:
    • A1L432
    • J9Y024
    • Q8N8K7
    • Q96Q84

    Protein attributes for INSM2 Gene

    Size:
    566 amino acids
    Molecular mass:
    59491 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK49393.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for INSM2 Gene

Post-translational modifications for INSM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for INSM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for INSM2 Gene

Domains & Families for INSM2 Gene

Gene Families for INSM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for INSM2 Gene

Suggested Antigen Peptide Sequences for INSM2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein IA-6 (INSM2_HUMAN)
genes like me logo Genes that share domains with INSM2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for INSM2 Gene

Function for INSM2 Gene

Molecular function for INSM2 Gene

UniProtKB/Swiss-Prot Function:
May function as a growth suppressor or tumor suppressor in liver cells and in certain neurons.

Phenotypes From GWAS Catalog for INSM2 Gene

Gene Ontology (GO) - Molecular Function for INSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with INSM2: view
genes like me logo Genes that share phenotypes with INSM2: view

miRNA for INSM2 Gene

miRTarBase miRNAs that target INSM2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSM2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for INSM2 Gene

Localization for INSM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSM2 Gene

Cytoplasm. Nucleus.

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 INSM2 gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for INSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0017053 transcriptional repressor complex IBA 21873635
genes like me logo Genes that share ontologies with INSM2: view

Pathways & Interactions for INSM2 Gene

PathCards logo

SuperPathways for INSM2 Gene

No Data Available

Interacting Proteins for INSM2 Gene

Gene Ontology (GO) - Biological Process for INSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0010564 regulation of cell cycle process IBA 21873635
GO:0030182 neuron differentiation IBA 21873635
genes like me logo Genes that share ontologies with INSM2: view

No data available for Pathways by source and SIGNOR curated interactions for INSM2 Gene

Drugs & Compounds for INSM2 Gene

No Compound Related Data Available

Transcripts for INSM2 Gene

mRNA/cDNA for INSM2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSM2

Alternative Splicing Database (ASD) splice patterns (SP) for INSM2 Gene

No ASD Table

Relevant External Links for INSM2 Gene

GeneLoc Exon Structure for
INSM2

Expression for INSM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for INSM2 Gene

mRNA differential expression in normal tissues according to GTEx for INSM2 Gene

This gene is overexpressed in Brain - Hypothalamus (x8.0), Brain - Frontal Cortex (BA9) (x6.8), Brain - Cortex (x5.5), Brain - Anterior cingulate cortex (BA24) (x5.2), Brain - Putamen (basal ganglia) (x5.1), and Brain - Nucleus accumbens (basal ganglia) (x4.5).

Protein differential expression in normal tissues from HIPED for INSM2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for INSM2 Gene



Protein tissue co-expression partners for INSM2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INSM2

SOURCE GeneReport for Unigene cluster for INSM2 Gene:

Hs.62813

mRNA Expression by UniProt/SwissProt for INSM2 Gene:

Q96T92-INSM2_HUMAN
Tissue specificity: Expressed in heart, liver, skeletal muscle, kidney and pancreas, and, to a lesser extent, in brain, lung and spleen. In the pancreas, expressed in islet cells, including insulin- and glucagon-producing alpha- and beta-cells, but not in acinar cells (at protein level). Detected in adrenal glands, particularly in the deeper layer of the cortex (at protein level).

Evidence on tissue expression from TISSUES for INSM2 Gene

  • Nervous system(4.3)
  • Pancreas(2.3)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with INSM2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for INSM2 Gene

Orthologs for INSM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for INSM2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia INSM2 29 30
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia INSM2 29 30
  • 86.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia INSM2 29
  • 85.59 (n)
Mouse
(Mus musculus)
Mammalia Insm2 29 16 30
  • 76.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Insm2 29
  • 76.36 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC792891 29
  • 54.16 (n)
INSM2 30
  • 49 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta nerfin-1 30
  • 22 (a)
ManyToMany
nerfin-2 30
  • 16 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea egl-46 30
  • 29 (a)
OneToMany
Species where no ortholog for INSM2 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)
  • Chicken (Gallus gallus)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for INSM2 Gene

ENSEMBL:
Gene Tree for INSM2 (if available)
TreeFam:
Gene Tree for INSM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INSM2: view image
Alliance of Genome Resources:
Additional Orthologs for INSM2

Paralogs for INSM2 Gene

Paralogs for INSM2 Gene

genes like me logo Genes that share paralogs with INSM2: view

Variants for INSM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INSM2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs1958260 -- p.Asp206Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for INSM2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for INSM2 Gene

Variant ID Type Subtype PubMed ID
dgv3630n54 CNV gain 21841781
dgv3631n54 CNV gain+loss 21841781
dgv3632n54 CNV loss 21841781
dgv3633n54 CNV gain 21841781
dgv3634n54 CNV loss 21841781
dgv3635n54 CNV loss 21841781
esv29225 CNV loss 19812545
nsv1039975 CNV gain 25217958
nsv564321 CNV gain+loss 21841781
nsv564322 CNV loss 21841781
nsv564333 CNV gain 21841781
nsv564337 CNV gain+loss 21841781
nsv564340 CNV loss 21841781

Variation tolerance for INSM2 Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INSM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
INSM2
Leiden Open Variation Database (LOVD)
INSM2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSM2 Gene

Disorders for INSM2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for INSM2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
insulinoma
  • insulin-producing tumor of islet cells
bleeding disorder, platelet-type, 17
  • bdplt17
arthrogryposis, distal, type 4
  • da4
orthostatic proteinuria
  • postural albuminuria
type 1 diabetes mellitus 18
  • t1d18
- elite association - COSMIC cancer census association via MalaCards
Search INSM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for INSM2

genes like me logo Genes that share disorders with INSM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INSM2 Gene

Publications for INSM2 Gene

  1. Expression of insulinoma-associated 2 (INSM2) in pancreatic islet cells is regulated by the transcription factors Ngn3 and NeuroD1. (PMID: 21343251) Cai T … Notkins AL (Endocrinology 2011) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair. (PMID: 29229926) Lu H … Bohr VA (Nature communications 2017) 3
  4. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. (PMID: 26598620) Dart AE … Wells CM (The Journal of cell biology 2015) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for INSM2 Gene

Sources for INSM2 Gene