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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]
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.
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 | 600.4 | +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 | CEBPB ATF3 CEBPG MAFK | IAPP piR-39858-114 SLCO1A2 lnc-SLCO1A2-1 SLCO1B1 | |
GH12J021296 | Enhancer | 0.4 | dbSUPER | 10.4 | -57.1 | -57106 | 3.3 | CTCF RAD21 SMC3 ZNF366 | IAPP piR-39858-114 SLCO1A2 lnc-SLCO1A2-1 SLCO1B1 | |
GH12J021323 | Promoter/Enhancer | 1 | EPDnew Ensembl ENCODE dbSUPER | 0.3 | -30.3 | -30335 | 2 | NANOG POU5F1 | SLCO1A2 IAPP piR-39858-114 lnc-SLCO1A2-1 SLCO1B1 | |
GH12J021393 | Promoter | 0.8 | Ensembl | 0.3 | +39.7 | 39742 | 1.8 | IKZF1 HDAC1 SOX6 POLR2A CTBP1 TAF9B ZSCAN29 NFRKB EP400 NCOR1 | piR-33432-103 piR-46002-111 piR-57176-114 lnc-SLCO1A2-1 SLCO1A2 piR-40110-127 IAPP |
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005623 | cell | IEA | -- |
GO:0043025 | neuronal cell body | IEA | -- |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 249 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||
SP2: | - | ||||||||||||
SP3: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IAPP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IAPP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Iapp 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Iapp 30 |
|
||
Cow (Bos Taurus) |
Mammalia | IAPP 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IAPP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IAPP 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IAPP 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | IAPP 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1800203 | - | p.Ser53Gly |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
insulinoma |
|
|
hyperglycemia |
|
|
islet cell tumor |
|
|
amyloidosis |
|
|
glucose intolerance |
|