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Aliases for INSRR Gene

Aliases for INSRR Gene

  • Insulin Receptor Related Receptor 2 3 5
  • IR-Related Receptor 3 4
  • IRR 3 4
  • Insulin Receptor-Related Protein 3
  • EC 2.7.10.1 4

External Ids for INSRR Gene

Previous GeneCards Identifiers for INSRR Gene

  • GC01M154679
  • GC01M152575
  • GC01M153588
  • GC01M154027
  • GC01M153623
  • GC01M155076
  • GC01M128169

Summaries for INSRR Gene

GeneCards Summary for INSRR Gene

INSRR (Insulin Receptor Related Receptor) is a Protein Coding gene. Diseases associated with INSRR include Regular Astigmatism and Podoconiosis. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is IGF1R.

UniProtKB/Swiss-Prot for INSRR Gene

  • Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB.

Gene Wiki entry for INSRR Gene

Additional gene information for INSRR Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INSRR Gene

Genomics for INSRR Gene

GeneHancer (GH) Regulatory Elements for INSRR Gene

Promoters and enhancers for INSRR 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
GH01J156858 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.7 -1.2 -1158 2.6 PKNOX1 SIN3A ZNF2 ZNF48 GLIS2 GATA2 ARID2 ZNF207 ZNF143 ATF7 GC01M156858 INSRR NTRK1 KHDC4 RRNAD1 PRCC GC01M156849
GH01J156765 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.8 +91.1 91072 4.5 CLOCK ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 MEF2D NBN HDGF PRCC RRNAD1 GON4L KHDC4 LOC246784 ISG20L2 CCT3 MRPL24 LRRC71
GH01J156804 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 12.2 +54.3 54317 0.6 ZNF316 ZBTB48 VEZF1 NFE2 MAFK IKZF2 CHD2 ZBTB11 CEBPB MAFG MRPL24 INSRR PEAR1 LRRC71 RRNAD1 ISG20L2 HDGF MIR765 ARHGEF11 C1orf61
GH01J156836 Enhancer 1 FANTOM5 ENCODE 12.3 +22.8 22785 0.2 PKNOX1 RB1 BACH1 STAT5A EBF1 BATF KLF5 IRF4 RELA NFATC1 INSRR NTRK1 PEAR1 LRRC71 SH2D2A TSACC GC01M156858
GH01J156805 Enhancer 1 Ensembl ENCODE dbSUPER 12.2 +52.7 52650 1 MEIS2 PKNOX1 FEZF1 TSHZ1 NR2F2 OSR2 ZNF23 ZNF692 GLIS1 FOXP2 INSRR PEAR1 LRRC71 RRNAD1 ISG20L2 HDGF MRPL24 MIR765 ARHGEF11 GC01P156814
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INSRR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the INSRR gene promoter:
  • AP-1
  • Sp1
  • p53
  • GR

Genomic Locations for INSRR Gene

Genomic Locations for INSRR Gene
chr1:156,840,063-156,859,018
(GRCh38/hg38)
Size:
18,956 bases
Orientation:
Minus strand
chr1:156,809,855-156,828,810
(GRCh37/hg19)
Size:
18,956 bases
Orientation:
Minus strand

Genomic View for INSRR Gene

Genes around INSRR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for INSRR Gene

Proteins for INSRR Gene

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

    Protein Symbol:
    P14616-INSRR_HUMAN
    Recommended name:
    Insulin receptor-related protein
    Protein Accession:
    P14616
    Secondary Accessions:
    • O60724
    • Q5VZS3

    Protein attributes for INSRR Gene

    Size:
    1297 amino acids
    Molecular mass:
    143720 Da
    Quaternary structure:
    • Probable tetramer of 2 alpha and 2 beta chains linked by disulfide bonds. The alpha chains contribute to the formation of the ligand-binding domain, while the beta chains carry the kinase domain.

neXtProt entry for INSRR Gene

Post-translational modifications for INSRR Gene

  • Autophosphorylated on tyrosine residues between pH 7.9 and pH 10.5.
  • Glycosylation at isoforms=898, isoforms=885, Asn756, isoforms=634, Asn616, isoforms=528, isoforms=492, isoforms=411, Asn311, and Asn47
  • Modification sites at PhosphoSitePlus

Other Protein References for INSRR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for INSRR Gene

Domains & Families for INSRR Gene

Suggested Antigen Peptide Sequences for INSRR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P14616

UniProtKB/Swiss-Prot:

INSRR_HUMAN :
  • The extracellular domain is required for sensing alterations in external pH.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Domain:
  • The extracellular domain is required for sensing alterations in external pH.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
genes like me logo Genes that share domains with INSRR: view

Function for INSRR Gene

Molecular function for INSRR Gene

UniProtKB/Swiss-Prot Function:
Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
GENATLAS Biochemistry:
insulin receptor,related receptor,expressed in subsets of neuron,renal distal tubules,enterochromaffin-like cells of the fundic stomach and in the islets of pancreas,mutated in a region,involved in the susceptibility to type II non insulin dependent diabetes

Enzyme Numbers (IUBMB) for INSRR Gene

Phenotypes From GWAS Catalog for INSRR Gene

Gene Ontology (GO) - Molecular Function for INSRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity IEA,IBA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity NAS 10226785
GO:0004888 transmembrane signaling receptor activity IBA --
genes like me logo Genes that share ontologies with INSRR: view
genes like me logo Genes that share phenotypes with INSRR: view

Animal Models for INSRR Gene

MGI Knock Outs for INSRR:

Animal Model Products

Clone Products

  • Addgene plasmids for INSRR

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for INSRR Gene

Localization for INSRR Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSRR Gene

Membrane; Single-pass type I membrane protein.

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 INSRR gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for INSRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005887 integral component of plasma membrane NAS 10226785
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030424 axon IBA --
genes like me logo Genes that share ontologies with INSRR: view

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

Pathways & Interactions for INSRR Gene

genes like me logo Genes that share pathways with INSRR: view

Gene Ontology (GO) - Biological Process for INSRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway NAS 10226785
GO:0007275 multicellular organism development IBA --
GO:0009968 negative regulation of signal transduction IBA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with INSRR: view

No data available for SIGNOR curated interactions for INSRR Gene

Drugs & Compounds for INSRR Gene

(5) Drugs for INSRR Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Linsitinib Investigational Pharma Inhibition, inhibitor IGF1R/IR inhibitor,potent and novel, IGF1R inhibitor, Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(2) Additional Compounds for INSRR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with INSRR: view

Transcripts for INSRR Gene

mRNA/cDNA for INSRR Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for INSRR Gene

Insulin receptor-related receptor:
Representative Sequences:

Clone Products

  • Addgene plasmids for INSRR

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

No ASD Table

Relevant External Links for INSRR Gene

GeneLoc Exon Structure for
INSRR
ECgene alternative splicing isoforms for
INSRR

Expression for INSRR Gene

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

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

This gene is overexpressed in Kidney - Cortex (x10.4), Testis (x6.3), and Stomach (x4.3).

Protein differential expression in normal tissues from HIPED for INSRR Gene

This gene is overexpressed in Adipocyte (59.2) and Liver, secretome (6.4).

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



Protein tissue co-expression partners for INSRR Gene

NURSA nuclear receptor signaling pathways regulating expression of INSRR Gene:

INSRR

SOURCE GeneReport for Unigene cluster for INSRR Gene:

Hs.248138

Evidence on tissue expression from TISSUES for INSRR Gene

  • Kidney(4.4)
genes like me logo Genes that share expression patterns with INSRR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for INSRR Gene

Orthologs for INSRR Gene

This gene was present in the common ancestor of animals.

Orthologs for INSRR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INSRR 34 33
  • 99.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia INSRR 34 33
  • 90.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia INSRR 34 33
  • 89.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Insrr 33
  • 85.48 (n)
mouse
(Mus musculus)
Mammalia Insrr 16 34 33
  • 85.43 (n)
oppossum
(Monodelphis domestica)
Mammalia INSRR 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857811 33
  • 74.69 (n)
INSRR 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INSRR 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia insrr 33
  • 65.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68585 33
fruit fly
(Drosophila melanogaster)
Insecta CG3837 34 35
  • 27 (a)
OneToMany
CG10702 35
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea daf-2 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
Species where no ortholog for INSRR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for INSRR Gene

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

Paralogs for INSRR Gene

Paralogs for INSRR Gene

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

  • INSRR_HUMAN
  • I6U4P1_HUMAN
genes like me logo Genes that share paralogs with INSRR: view

Variants for INSRR Gene

Sequence variations from dbSNP and Humsavar for INSRR Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_041438 A lung adenocarcinoma sample p.Glu278Gln
VAR_041441 A glioblastoma multiforme sample p.Gly1065Glu
rs1057522593 likely-benign, not specified 156,860,891(-) C/T upstream_transcript_variant
rs570123832 likely-benign, not specified 156,860,896(-) A/G upstream_transcript_variant
rs1000057562 -- 156,842,361(-) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv831648 CNV loss 17160897
nsv831659 CNV loss 17160897
nsv998265 CNV gain 25217958

Variation tolerance for INSRR Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.86; 83.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INSRR Gene

Human Gene Mutation Database (HGMD)
INSRR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INSRR

SNP Genotyping and Copy Number Assay Products

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

Disorders for INSRR Gene

MalaCards: The human disease database

(5) MalaCards diseases for INSRR Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
regular astigmatism
podoconiosis
  • podoconiosis, susceptibility to
insulin-like growth factor i
  • insulin-like growth factor i, resistance to
neurofibrosarcoma
  • neurosarcoma
elephantiasis
- elite association - COSMIC cancer census association via MalaCards
Search INSRR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for INSRR

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 INSRR: view

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

Publications for INSRR Gene

  1. Cloning and sequencing of the complete cDNA encoding the human insulin receptor related receptor. (PMID: 10226785) Hänze J … Kiess W (Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 1999) 3 4 22 58
  2. Localization of the insulin receptor-related receptor gene to human chromosome 1. (PMID: 2249481) Shier P … Watt VM (Cytogenetics and cell genetics 1990) 2 3 22 58
  3. Primary structure of a putative receptor for a ligand of the insulin family. (PMID: 2768234) Shier P … Watt VM (The Journal of biological chemistry 1989) 2 3 4 58
  4. Insulin receptor-related receptor as an extracellular alkali sensor. (PMID: 21641549) Deyev IE … Petrenko AG (Cell metabolism 2011) 3 4 58
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58

Products for INSRR Gene

Sources for INSRR Gene

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