Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3643
Gene name Gene Name - the full gene name approved by the HGNC.
Insulin receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INSR
Synonyms (NCBI Gene) Gene synonyms aliases
CD220, HHF5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HHF5
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this re
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1799816 C>T Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign Coding sequence variant, missense variant
rs41304772 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs52836744 C>T Pathogenic Coding sequence variant, missense variant
rs121913135 C>A Pathogenic Coding sequence variant, missense variant
rs121913136 T>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029227 hsa-miR-26b-5p Microarray 19088304
MIRT438296 hsa-miR-195-5p Luciferase reporter assay, qRT-PCR, Western blot 25240198
MIRT438296 hsa-miR-195-5p Luciferase reporter assay, qRT-PCR, Western blot 25240198
MIRT438296 hsa-miR-195-5p Luciferase reporter assay, qRT-PCR, Western blot 25240198
MIRT438296 hsa-miR-195-5p Luciferase reporter assay, qRT-PCR, Western blot 25240198
Transcription factors
Transcription factor Regulation Reference
CEBPA Activation 8288055
CEBPB Activation 8288055
ESR2 Repression 22099628
HMGA1 Activation 16707431
HMGA1 Repression 17434141
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000187 Process Activation of MAPK activity IMP 17001305
GO:0001540 Function Amyloid-beta binding IPI 19406747
GO:0001934 Process Positive regulation of protein phosphorylation IDA 7556070
GO:0002092 Process Positive regulation of receptor internalization IDA 25401701
GO:0003007 Process Heart morphogenesis IMP 7693131
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147670 6091 ENSG00000171105
Protein
UniProt ID P06213
Protein name Insulin receptor (IR) (EC 2.7.10.1) (CD antigen CD220) [Cleaved into: Insulin receptor subunit alpha; Insulin receptor subunit beta]
Protein function Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signali
PDB 1GAG , 1I44 , 1IR3 , 1IRK , 1P14 , 1RQQ , 2AUH , 2B4S , 2HR7 , 2MFR , 2Z8C , 3BU3 , 3BU5 , 3BU6 , 3EKK , 3EKN , 3ETA , 3W11 , 3W12 , 3W13 , 4IBM , 4OGA , 4XLV , 4XSS , 4XST , 4ZXB , 5E1S , 5HHW , 5J3H , 5KQV , 5U1M , 6HN4 , 6HN5 , 6PXV , 6PXW , 6SOF , 6VEP , 6VEQ , 7BW7 , 7BW8 , 7BWA , 7KD6 , 7MQO , 7MQR , 7MQS , 7PG0 , 7PG2 , 7PG3 , 7PG4 , 7PHT , 7QID
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01030 Recep_L_domain 52 164 Receptor L domain Repeat
PF00757 Furin-like 179 340 Furin-like cysteine rich region Domain
PF01030 Recep_L_domain 359 473 Receptor L domain Repeat
PF17870 Insulin_TMD 940 987 Insulin receptor trans-membrane segment Domain
PF07714 PK_Tyr_Ser-Thr 1023 1290 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Isoform Long and isoform Short are predominantly expressed in tissue targets of insulin metabolic effects: liver, adipose tissue and skeletal muscle but are also expressed in the peripheral nerve, kidney, pulmonary alveoli, pancreatic
Sequence
MATGGRRGAAAAPLLVAVAALLLGAAGHLYPGEVCPGMDIRNNLTRLHELENCSVIEGHL
QILLMFKTRPEDFRDLSFPKLIMITDYLLLFRVYGLESLKDLFPNLTVIRGSRLFFNYAL
VIFEMVHLKELGLYNLMNITRGSVRIEKNNELCYLATIDWSRIL
DSVEDNYIVLNKDDNE
ECGDICPGTAKGKTNCPATVINGQFVERCWTHSHCQKVCPTICKSHGCTAEGLCCHSECL
GNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCVNFSFCQDLHHKCKNSRRQG
CHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCH
LLEGEKTIDSVTSAQELRGC
TVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRRSYALVSLSFFRKLRLIRGETL
EIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVS
GTKGRQE
RNDIALKTNGDQASCENELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQ
NVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHPGWLMRGLKPWTQYAIFVKTLVTFS
DERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWE
RQAEDSELFELDYCLKGLKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQIL
KELEESSFRKTFEDYLHNVVFVPRKTSSGTGAEDPRPSRKRRSLGDVGNVTVAVPTVAAF
PNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYV
SARTMPEAKADDIVGPVTHEIFENNVVHLMWQEPKEPNGLIVLYEVSYRRYGDEELHLCV
SRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYLDVPSNIAKIIIG
PLIFVFLFSVVIGSIYLFLRKRQPDGP
LGPLYASSNPEYLSASDVFPCSVYVPDEWEVSR
EKITLLRELGQGSFGMVYEGNARDIIKGEAETRVAVKTVNESASLRERIEFLNEASVMKG
FTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPGRPPPTLQEMIQMA
AEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIYETDYYRKGGKGLLPV
RWMAPESLKDGVFTTSSDMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDN
CPERVTDLMRMCWQFNPKMRPTFLEIVNLL
KDDLHPSFPEVSFFHSEENKAPESEELEME
FEDMENVPLDRSSHCQREEAGGRDGGSSLGFKRSYEEHIPYTHMNGGKKNGRILTLPRSN
PS
Sequence length 1382
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cGMP-PKG signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Phospholipase D signaling pathway
Hormone signaling
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Adherens junction
Insulin signaling pathway
Ovarian steroidogenesis
Regulation of lipolysis in adipocytes
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
Aldosterone-regulated sodium reabsorption
Alzheimer disease
Diabetic cardiomyopathy
  PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
IRS activation
Signal attenuation
Insulin receptor signalling cascade
Signaling by Insulin receptor
Insulin receptor recycling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
24055495
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs775394591 21433279
Unknown
Disease term Disease name Evidence References Source
Acanthosis nigricans Acanthosis Nigricans ClinVar
Asthma Asthma GWAS
Diabetic Retinopathy Diabetic Retinopathy GWAS
Polycystic Ovary Syndrome Polycystic Ovary Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Ablepharon macrostomia syndrome Associate 26637991
Acanthosis Nigricans Associate 20493471, 31899992
Adenocarcinoma Stimulate 21952750
Adenocarcinoma Associate 31211453
Adenoma Associate 25017244, 39201651
Adenoviridae Infections Associate 18599527
Adrenocortical Adenoma Associate 40038716
Adrenocortical Carcinoma Associate 40038716
AIDS Associated Nephropathy Associate 22629383
Alcoholism Associate 18616667