Gene: INS-IGF2
Alternate names for this Gene: INSIGF
Gene Summary: This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye.
Gene is located in Chromosome: 11
Location in Chromosome : 11p15.5
Description of this Gene: INS-IGF2 readthrough
Type of Gene: protein-coding
Gene: INS
Alternate names for this Gene: IDDM|IDDM1|IDDM2|ILPR|IRDN|MODY10|PNDM4
Gene Summary: This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region.
Gene is located in Chromosome: 11
Location in Chromosome : 11p15.5
Description of this Gene: insulin
Type of Gene: protein-coding
rs121908261 in
INS-IGF2;INS gene and
DIABETES MELLITUS, INSULIN-DEPENDENT, 2
PMID 18192540 2008 Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
rs1135401727 in
INS-IGF2;INS gene and
DIABETES MELLITUS, PERMANENT NEONATAL
PMID 20133622 2010 Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
PMID 20938745 2010 Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.
PMID 17855560 2007 Insulin gene mutations as a cause of permanent neonatal diabetes.
PMID 18162506 2008 Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
PMID 21592955 2011 Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
rs1057524907 in
INS-IGF2;INS gene and
Hyperglycemia
PMID 25542748 2015 INS-gene mutations: from genetics and beta cell biology to clinical disease.
PMID 18192540 2008 Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
PMID 18162506 2008 Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
PMID 20226046 2010 Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
PMID 17855560 2007 Insulin gene mutations as a cause of permanent neonatal diabetes.
rs121908278 in
INS-IGF2;INS gene and
Maturity-onset diabetes of the young, type 10
PMID 25423173 2014 Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young.
PMID 18162506 2008 Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
PMID 18192540 2008 Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
PMID 20226046 2010 Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
PMID 17855560 2007 Insulin gene mutations as a cause of permanent neonatal diabetes.
PMID 25542748 2015 INS-gene mutations: from genetics and beta cell biology to clinical disease.
rs1057524907 in
INS-IGF2;INS gene and
Monogenic diabetes
PMID 20226046 2010 Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
PMID 18192540 2008 Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
PMID 17855560 2007 Insulin gene mutations as a cause of permanent neonatal diabetes.
PMID 25542748 2015 INS-gene mutations: from genetics and beta cell biology to clinical disease.
PMID 18162506 2008 Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.