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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | RGD:737044 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | RGD:737044 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Islet amyloid formed from diabetes-associated peptide may be pathogenic in type-2 diabetes. | Clark A, etal., Lancet. 1987 Aug 1;2(8553):231-4. |
2. | Amyloid ß (Aß) peptide directly activates amylin-3 receptor subtype by triggering multiple intracellular signaling pathways. | Fu W, etal., J Biol Chem. 2012 May 25;287(22):18820-30. doi: 10.1074/jbc.M111.331181. Epub 2012 Apr 12. |
3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
4. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
5. | Ultrastructure of islet microcirculation, pericytes and the islet exocrine interface in the HIP rat model of diabetes. | Hayden MR, etal., Exp Biol Med (Maywood). 2008 Sep;233(9):1109-23. Epub 2008 Jul 18. |
6. | Twenty-four-hour simultaneous subcutaneous Basal-bolus administration of insulin and amylin in adolescents with type 1 diabetes decreases postprandial hyperglycemia. | Heptulla RA, etal., J Clin Endocrinol Metab. 2009 May;94(5):1608-11. Epub 2009 Feb 3. |
7. | High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence. | Kwitek AE, etal., Genome Res. 2004 Apr;14(4):750-7 |
8. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
9. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
10. | Conservation of the sequence of islet amyloid polypeptide in five mammals is consistent with its putative role as an islet hormone. | Nishi M, etal., Proc Natl Acad Sci U S A 1989 Aug;86(15):5738-42. |
11. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
12. | Amylin receptor blockade stimulates food intake in rats. | Reidelberger RD, etal., Am J Physiol Regul Integr Comp Physiol. 2004 Sep;287(3):R568-74. Epub 2004 May 6. |
13. | GOA pipeline | RGD automated data pipeline |
14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
15. | Islet amyloid polypeptide: structure and upstream sequences of the IAPP gene in rat and man. | van Mansfeld AD, etal., Biochim Biophys Acta 1990 Oct 23;1087(2):235-40. |
16. | Direct detection of transient alpha-helical states in islet amyloid polypeptide. | Williamson JA and Miranker AD, Protein Sci. 2007 Jan;16(1):110-7. Epub 2006 Nov 22. |
17. | Impaired hyperglycemia-induced delay in gastric emptying in patients with type 1 diabetes deficient for islet amyloid polypeptide. | Woerle HJ, etal., Diabetes Care. 2008 Dec;31(12):2325-31. |
18. | Amyloid oligomers in diabetic and nondiabetic human pancreas. | Zhao HL, etal., Transl Res. 2009 Jan;153(1):24-32. Epub 2008 Nov 19. |
PMID:2357234 | PMID:2654937 | PMID:2666169 | PMID:2679555 | PMID:9838101 | PMID:11782784 | PMID:12589759 | PMID:12717720 | PMID:12958059 | PMID:14532296 | PMID:14615061 | PMID:14970190 |
PMID:15572200 | PMID:15710403 | PMID:15802374 | PMID:16142909 | PMID:16553787 | PMID:16890462 | PMID:17428511 | PMID:17481674 | PMID:17640888 | PMID:17693256 | PMID:17703089 | PMID:18346817 |
PMID:18408164 | PMID:18458326 | PMID:18486611 | PMID:18669592 | PMID:18989932 | PMID:19146426 | PMID:19456151 | PMID:19554505 | PMID:19811608 | PMID:19948124 | PMID:20028124 | PMID:20141758 |
PMID:20416330 | PMID:20668029 | PMID:21130765 | PMID:21138812 | PMID:21266296 | PMID:21606325 | PMID:21865171 | PMID:21965599 | PMID:21984830 | PMID:22014233 | PMID:22106265 | PMID:22334700 |
PMID:22522254 | PMID:22944668 | PMID:23219578 | PMID:23493863 | PMID:24042052 | PMID:24561193 | PMID:25002582 | PMID:25649462 | PMID:25706385 | PMID:26221949 | PMID:26676252 | PMID:26840340 |
PMID:27566545 | PMID:28665109 | PMID:28912603 | PMID:29523142 | PMID:30803034 | PMID:32436936 | PMID:32587390 | PMID:34264642 | PMID:37126782 |
Iapp (Rattus norvegicus - Norway rat) |
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IAPP (Homo sapiens - human) |
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Iapp (Mus musculus - house mouse) |
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Iapp (Chinchilla lanigera - long-tailed chinchilla) |
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IAPP (Pan paniscus - bonobo/pygmy chimpanzee) |
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IAPP (Canis lupus familiaris - dog) |
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Iapp (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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IAPP (Sus scrofa - pig) |
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IAPP (Chlorocebus sabaeus - green monkey) |
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Iapp (Heterocephalus glaber - naked mole-rat) |
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Variants in Iapp
19 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D4Wox12 |
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D4Arb1 |
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D4Mgh29 |
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D4Got138 |
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Iapp |
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RH94796 |
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RH142197 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 2 | 1 | |||||||||||
Low | 3 | 9 | 5 | 9 | 5 | 1 | 16 | 14 | 10 | ||||
Below cutoff | 3 | 12 | 8 | 8 | 8 | 1 | 1 | 9 | 5 | 10 | 1 |
RefSeq Transcripts | NM_012586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC144687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
J04544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M25390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X52820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X52821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000016614 ⟹ ENSRNOP00000016614 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_012586 ⟹ NP_036718 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_036718 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA40730 | (Get FASTA) | NCBI Sequence Viewer |
AAA41359 | (Get FASTA) | NCBI Sequence Viewer | |
CAA37003 | (Get FASTA) | NCBI Sequence Viewer | |
EDM01507 | (Get FASTA) | NCBI Sequence Viewer | |
P12969 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_036718 ⟸ NM_012586 |
- Peptide Label: | preproprotein |
- UniProtKB: | P12969 (UniProtKB/Swiss-Prot), A6IMT2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000016614 ⟸ ENSRNOT00000016614 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P12969-F1-model_v2 | AlphaFold | P12969 | 1-93 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:2854 | AgrOrtholog |
BioCyc Gene | G2FUF-42499 | BioCyc |
Ensembl Genes | ENSRNOG00000012417 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSRNOP00000016614 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENSRNOT00000016614 | ENTREZGENE, UniProtKB/Swiss-Prot |
Gene3D-CATH | 6.10.250.2190 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | Calcitonin-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Calcitonin/adrenomedullin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Calcitonin_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Calcitonin_peptide-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IAPP | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot | |
KEGG Report | rno:24476 | UniProtKB/Swiss-Prot |
NCBI Gene | 24476 | ENTREZGENE |
PANTHER | CALCITONIN-RELATED | UniProtKB/TrEMBL |
ISLET AMYLOID POLYPEPTIDE | UniProtKB/TrEMBL | |
PTHR10505 | UniProtKB/Swiss-Prot | |
PTHR10505:SF4 | UniProtKB/Swiss-Prot | |
Pfam | Calc_CGRP_IAPP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | IAPP | RGD |
PhenoGen | Iapp | PhenoGen |
PRINTS | ISLETAMYLOID | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | CALCITONIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | CALCITONIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A6IMT2 | ENTREZGENE, UniProtKB/TrEMBL |
IAPP_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2002-06-10 | Iapp | Islet amyloid polypeptide | Symbol and Name status set to approved | 70586 | APPROVED |
Note Type | Note | Reference |
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gene_regulation | gene contains a TATA-box, a CCAAT-sequence and a GT-element | 729418 |