This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, a... See more...

Aliases for IAPP Gene

Aliases for IAPP Gene

  • Islet Amyloid Polypeptide 2 3 4 5
  • Amylin 2 3 4
  • Diabetes-Associated Peptide 3 4
  • Insulinoma Amyloid Peptide 3 4
  • DAP 3 4
  • Islet Amyloid Polypeptide (Diabetes-Associated Peptide; Amylin) 3
  • IAP 3

External Ids for IAPP Gene

Previous GeneCards Identifiers for IAPP Gene

  • GC12P021811
  • GC12P021527
  • GC12P021426
  • GC12P021417
  • GC12P021299
  • GC12P021507

Summaries for IAPP Gene

Entrez Gene Summary for IAPP Gene

  • This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]

GeneCards Summary for IAPP Gene

IAPP (Islet Amyloid Polypeptide) is a Protein Coding gene. Diseases associated with IAPP include Insulinoma and Hyperglycemia. Among its related pathways are Signaling by GPCR and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include identical protein binding and hormone activity. An important paralog of this gene is CALCB.

UniProtKB/Swiss-Prot Summary for IAPP Gene

  • Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism.

Gene Wiki entry for IAPP Gene

Additional gene information for IAPP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IAPP Gene

Genomics for IAPP Gene

GeneHancer (GH) Regulatory Elements for IAPP Gene

Promoters and enhancers for IAPP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J021372 Promoter 0.3 EPDnew 500.4 +17.9 17924 0.1 IAPP piR-40110-127 piR-46002-111 SLCO1A2 lnc-SLCO1A2-1
GH12J021300 Enhancer 0.4 Ensembl 10.4 -54.2 -54158 0.8 SKI CEBPG CEBPB MAFK ATF3 IAPP piR-39858-114 SLCO1A2 lnc-SLCO1A2-1
GH12J021296 Enhancer 0.4 dbSUPER 10.4 -57.1 -57106 3.3 CTCF RAD21 SMC3 ZNF366 ZNF143 IAPP piR-39858-114 SLCO1A2 lnc-SLCO1A2-1
GH12J021323 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 0.3 -30.3 -30335 2 CHD7 POU5F1 NANOG SLCO1A2 IAPP piR-39858-114 lnc-SLCO1A2-1
GH12J021333 Enhancer 0.3 Ensembl dbSUPER 0.4 -15.4 -15358 0.8 SPX IAPP piR-39858-114 SLCO1A2 lnc-SLCO1A2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IAPP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IAPP

Top Transcription factor binding sites by QIAGEN in the IAPP gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Cdc5
  • GR
  • GR-alpha
  • GR-beta
  • Pbx1a
  • TBP

Genomic Locations for IAPP Gene

Genomic Locations for IAPP Gene
chr12:21,354,959-21,379,980
(GRCh38/hg38)
Size:
25,022 bases
Orientation:
Plus strand
chr12:21,507,893-21,532,914
(GRCh37/hg19)
Size:
25,022 bases
Orientation:
Plus strand

Genomic View for IAPP Gene

Genes around IAPP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IAPP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IAPP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IAPP Gene

Proteins for IAPP Gene

  • Protein details for IAPP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10997-IAPP_HUMAN
    Recommended name:
    Islet amyloid polypeptide
    Protein Accession:
    P10997
    Secondary Accessions:
    • Q0ZD87
    • Q14598

    Protein attributes for IAPP Gene

    Size:
    89 amino acids
    Molecular mass:
    9806 Da
    Quaternary structure:
    • Interacts with IDE and INS. Can form homodimers. Interaction with INS inhibits homodimerization and fibril formation.
    Miscellaneous:
    • IAPP is the peptide subunit of amyloid found in pancreatic islets of type 2 diabetic patients and in insulinomas.

    Three dimensional structures from OCA and Proteopedia for IAPP Gene

neXtProt entry for IAPP Gene

Post-translational modifications for IAPP Gene

Other Protein References for IAPP Gene

No data available for DME Specific Peptides for IAPP Gene

Domains & Families for IAPP Gene

Gene Families for IAPP Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for IAPP Gene

Blocks:
  • Islet amyloid protein (amylin) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IAPP Gene

GenScript: Design optimal peptide antigens:
  • Insulinoma amyloid peptide (IAPP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10997

UniProtKB/Swiss-Prot:

IAPP_HUMAN :
  • The mature protein is largely unstructured in the absence of a cognate ligand, and has a strong tendency to form fibrillar aggregates. Homodimerization may be the first step of amyloid formation.
  • Belongs to the calcitonin family.
Domain:
  • The mature protein is largely unstructured in the absence of a cognate ligand, and has a strong tendency to form fibrillar aggregates. Homodimerization may be the first step of amyloid formation.
Family:
  • Belongs to the calcitonin family.
genes like me logo Genes that share domains with IAPP: view

Function for IAPP Gene

Molecular function for IAPP Gene

UniProtKB/Swiss-Prot Function:
Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism.
GENATLAS Biochemistry:
islet amyloid polypeptide

Phenotypes From GWAS Catalog for IAPP Gene

Gene Ontology (GO) - Molecular Function for IAPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding TAS 22500019
GO:0005102 signaling receptor binding TAS 2608057
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 17051221
GO:0042802 identical protein binding IPI 17640888
genes like me logo Genes that share ontologies with IAPP: view
genes like me logo Genes that share phenotypes with IAPP: view

Animal Models for IAPP Gene

MGI Knock Outs for IAPP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IAPP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IAPP Gene

Localization for IAPP Gene

Subcellular locations from UniProtKB/Swiss-Prot for IAPP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IAPP gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for IAPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005623 cell IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with IAPP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IAPP Gene

Pathways & Interactions for IAPP Gene

genes like me logo Genes that share pathways with IAPP: view

Gene Ontology (GO) - Biological Process for IAPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS 8152488
GO:0007165 signal transduction IEA,TAS 10342886
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway ISS --
GO:0007204 positive regulation of cytosolic calcium ion concentration NAS 22500019
genes like me logo Genes that share ontologies with IAPP: view

No data available for SIGNOR curated interactions for IAPP Gene

Drugs & Compounds for IAPP Gene

(47) Drugs for IAPP Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 236

(27) Additional Compounds for IAPP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IAPP: view

Transcripts for IAPP Gene

mRNA/cDNA for IAPP Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IAPP

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IAPP Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b
SP1: - -
SP2: -
SP3: -

Relevant External Links for IAPP Gene

GeneLoc Exon Structure for
IAPP

Expression for IAPP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IAPP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IAPP Gene

This gene is overexpressed in Pancreas (x51.2).

Protein differential expression in normal tissues from HIPED for IAPP Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IAPP Gene



Protein tissue co-expression partners for IAPP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IAPP

SOURCE GeneReport for Unigene cluster for IAPP Gene:

Hs.46835

Evidence on tissue expression from TISSUES for IAPP Gene

  • Pancreas(5)
  • Blood(2.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with IAPP: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IAPP Gene

Orthologs for IAPP Gene

This gene was present in the common ancestor of chordates.

Orthologs for IAPP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IAPP 31 30
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IAPP 31 30
  • 83.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Iapp 17 31 30
  • 76.63 (n)
rat
(Rattus norvegicus)
Mammalia Iapp 30
  • 75.29 (n)
cow
(Bos Taurus)
Mammalia IAPP 31
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IAPP 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves IAPP 31
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IAPP 31
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii IAPP 31
  • 34 (a)
OneToOne
Species where no ortholog for IAPP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IAPP Gene

ENSEMBL:
Gene Tree for IAPP (if available)
TreeFam:
Gene Tree for IAPP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IAPP: view image

Paralogs for IAPP Gene

Paralogs for IAPP Gene

(2) SIMAP similar genes for IAPP Gene using alignment to 4 proteins:

  • IAPP_HUMAN
  • F5H0S1_HUMAN
  • F5H1F0_HUMAN
  • H0YF85_HUMAN
genes like me logo Genes that share paralogs with IAPP: view

Variants for IAPP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IAPP Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1800203 - p.Ser53Gly

Additional dbSNP identifiers (rs#s) for IAPP Gene

Structural Variations from Database of Genomic Variants (DGV) for IAPP Gene

Variant ID Type Subtype PubMed ID
esv3628806 CNV loss 21293372
nsv1040888 CNV loss 25217958
nsv469161 CNV loss 19166990
nsv469162 CNV loss 19166990
nsv470274 CNV loss 18288195
nsv519603 CNV gain+loss 19592680
nsv557735 CNV loss 21841781
nsv557737 CNV loss 21841781
nsv557738 CNV loss 21841781
nsv557739 CNV loss 21841781
nsv557740 CNV loss 21841781

Variation tolerance for IAPP Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IAPP Gene

Human Gene Mutation Database (HGMD)
IAPP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IAPP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IAPP Gene

Disorders for IAPP Gene

MalaCards: The human disease database

(30) MalaCards diseases for IAPP Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
insulinoma
  • islet cell tumor
hyperglycemia
islet cell tumor
  • pancreatic endocrine carcinoma
amyloidosis
  • amyloid disease
glucose intolerance
  • glucose: intolerance
- elite association - COSMIC cancer census association via MalaCards
Search IAPP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IAPP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IAPP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IAPP Gene

Publications for IAPP Gene

  1. Missense mutation of amylin gene (S20G) in Japanese NIDDM patients. (PMID: 8772735) Sakagashira S … Nanjo K (Diabetes 1996) 3 4 23 41 54
  2. Cloning and expression of human islet amyloid polypeptide in cultured cells. (PMID: 17374526) Bhattacharya S … Singh S (Biochemical and biophysical research communications 2007) 3 4 23 54
  3. Islet amyloid polypeptide gene promoter polymorphisms are not associated with Type 2 diabetes or with the severity of islet amyloidosis. (PMID: 15878744) Esapa C … Clark A (Biochimica et biophysica acta 2005) 3 23 41 54
  4. S20G mutation of the amylin gene is associated with a lower body mass index in Korean type 2 diabetic patients. (PMID: 12706321) Cho YM … Lee HK (Diabetes research and clinical practice 2003) 3 23 41 54
  5. Polymorphism in intron 2 of islet amyloid polypeptide gene is associated with lower low-density lipoprotein cholesterol in nondiabetic subjects and in type 2 diabetic patients. (PMID: 12588049) Rojas I … Novials A (Endocrine 2002) 3 23 41 54

Products for IAPP Gene

Sources for IAPP Gene