Gene Gene information from NCBI Gene database.
Entrez ID 3643
Gene name Insulin receptor
Gene symbol INSR
Synonyms (NCBI Gene)
CD220HHF5
Chromosome 19
Chromosome location 19p13.2
Summary 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.
58
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.
748
miRTarBase ID miRNA Experiments Reference
MIRT029227 hsa-miR-26b-5p Microarray 19088304
MIRT438296 hsa-miR-195-5p Luciferase reporter assayqRT-PCRWestern blot 25240198
MIRT438296 hsa-miR-195-5p Luciferase reporter assayqRT-PCRWestern blot 25240198
MIRT438296 hsa-miR-195-5p Luciferase reporter assayqRT-PCRWestern blot 25240198
MIRT438296 hsa-miR-195-5p Luciferase reporter assayqRT-PCRWestern blot 25240198
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Transcription factor Regulation Reference
CEBPA Activation 8288055
CEBPB Activation 8288055
ESR2 Repression 22099628
HMGA1 Activation 16707431
HMGA1 Repression 17434141
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
130
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001540 Function Amyloid-beta binding IPI 19406747
GO:0002092 Process Positive regulation of receptor internalization IDA 25401701
GO:0003007 Process Heart morphogenesis IMP 7693131
GO:0004672 Function Protein kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147670 6091 ENSG00000171105
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
63
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
46,XY disorder of sex development Likely pathogenic rs2512389876 RCV003126299
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer Likely pathogenic rs2512363368 RCV005932734
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinism due to INSR deficiency Pathogenic; Likely pathogenic rs797045624, rs121913148, rs121913156, rs1599937180 RCV000194300
RCV002496377
RCV000125461
RCV002291289
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
INSR-related disorder Likely pathogenic rs2512519713 RCV004529819
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome Pubtator 26637991 Associate
★☆☆☆☆
Found in Text Mining only
Acanthosis Nigricans Acanthosis Nigricans BEFREE 11595827, 12107746, 12452857, 15232309, 1588128, 2180980, 23824322, 2544997, 27505086, 29411486, 31827016, 8175972
★☆☆☆☆
Found in Text Mining only
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 24055495
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 2741924
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19688775, 24571613, 25102778, 26026165
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 25102778
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26263910
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 21062411, 24194259
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 17416760, 25102778
★☆☆☆☆
Found in Text Mining only