The INSR gene homepage

General information
Gene symbol INSR
Gene name insulin receptor
Chromosome 19
Chromosomal band p13.3-p13.2
Imprinted Unknown
Genomic reference NG_008852.2
Transcript reference NM_000208.2
Exon/intron information NM_000208.2 exon/intron table
Associated with diseases Donohue syndrome (Leprechaunism), Hyperinsulinemic hypoglycemia familial 5, hyperplasia, pineal, insulin-resistant diabetes mellitus, somatic abnormalities, Insulin-resistant diabetes mellitus and acanthosis nigricans
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 51
Unique public DNA variants reported 40
Individuals with public variants 158
Hidden variants 62
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated March 29, 2021
Version INSR:210329

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000208.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/INSR
HGNC 6091
Entrez Gene 3643
PubMed articles INSR
OMIM - Gene 147670
OMIM - Diseases Donohue syndrome (Leprechaunism)
Hyperinsulinemic hypoglycemia familial 5
hyperplasia, pineal, insulin-resistant diabetes mellitus, somatic abnormalities
Insulin-resistant diabetes mellitus and acanthosis nigricans
HGMD INSR
GeneCards INSR
GeneTests INSR
Orphanet INSR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010071 19 transcript variant 1 NM_000208.2 NP_000199.2 51


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.