Hs00435790_cn

• Gene Symbol: IAPP
• Assay Reference Genome Location: Chr.12:21378528 on build GRCh38
• Cytoband: 12p12.1

Target Gene Details

• Entrez Gene ID: 3375
• Gene Name: islet amyloid polypeptide
• Gene Aliases: DAP, IAP
• Location: Chr.12:21354928-21379980 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IAPP	NM_000415.2	3	524	NP_000406.1
	XM_017019253.1	3	473	XP_016874742.1
	AA429852.1
	AA446156.1
	CK905016.1
	J04422.1	3	508	AAA52281.1
	X14904.1	3	470	CAA33032.1
	X14905.1	1	160	CAA33033.1

Target Gene Details

• Entrez Gene ID: 6579
• Gene Name: solute carrier organic anion transporter family member 1A2
• Gene Aliases: OATP, OATP-A, OATP1A2, SLC21A3
• Location: Chr.12:21264600-21403657 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLCO1A2	NM_134431.3			NP_602307.1
	XM_011520819.1			XP_011519121.1
	AF279784.1			AAG30037.1
	AK316249.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv470274	Chr.12:21378503 - 21415116 on Build GRCh38	Loss	IAPP SLCO1A2
nsv557735	Chr.12:21290348 - 21386023 on Build GRCh38	Loss	IAPP SLCO1A2
nsv557737	Chr.12:21354768 - 21402757 on Build GRCh38	Loss	IAPP SLCO1A2
nsv557739	Chr.12:21373538 - 21390281 on Build GRCh38	Loss	IAPP SLCO1A2
nsv557738	Chr.12:21372770 - 21378503 on Build GRCh38	Loss	IAPP SLCO1A2
nsv1040888	Chr.12:21369337 - 21415616 on Build GRCh38	Loss	IAPP SLCO1A2
esv3628806	Chr.12:21343905 - 21380714 on Build GRCh38	Loss	IAPP SLCO1A2

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

peptide hormone, transporter

Gene Ontology Categories:

Process(es)

apoptotic process
signal transduction
cell-cell signaling
sensory perception of pain
eating behavior
cellular protein metabolic process
negative regulation of cell differentiation
negative regulation of bone resorption
bile acid metabolic process
organic anion transport
bile acid and bile salt transport
sodium-independent organic anion transport
mitophagy in response to mitochondrial depolarization

Function(s)

receptor binding
hormone activity
identical protein binding
organic anion transmembrane transporter activity
bile acid transmembrane transporter activity
sodium-independent organic anion transmembrane transporter activity