IAPP

islet amyloid polypeptide, the group of Neuropeptides

Basic information

Region (hg38): 12:21354958-21379980

Links

ENSG00000121351 ∙ NCBI:3375 ∙ OMIM:147940 ∙ HGNC:5329 ∙ Uniprot:P10997 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IAPP gene.

• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IAPP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in IAPP

This is a list of pathogenic ClinVar variants found in the IAPP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-21373388-C-T		not specified	Uncertain significance (Oct 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IAPP	protein_coding	protein_coding	ENST00000240652	2	25020

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00318	0.388	125586	0	40	125626	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.197	45	48.9	0.921	0.00000258	571
Missense in Polyphen		12	12.38	0.9693		135
Synonymous	0.0836	19	19.5	0.976	9.22e-7	189
Loss of Function	-0.712	3	1.93	1.55	8.13e-8	24

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000235	0.000235
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000247	0.000246
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000490	0.000490

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism.
• Pathway: Maturity onset diabetes of the young - Homo sapiens (human);Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Calcitonin-like ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.256

Intolerance Scores

• loftool: 0.416
• rvis_EVS: -0.14
• rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

• pHI: 0.248
• hipred: N
• hipred_score: 0.256
• ghis: 0.383

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Iapp
• Phenotype: immune system phenotype; skeleton phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: apoptotic process;signal transduction;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;cell-cell signaling;regulation of signaling receptor activity;positive regulation of protein kinase A signaling;negative regulation of mitochondrion organization;sensory perception of pain;negative regulation of protein homooligomerization;eating behavior;positive regulation of apoptotic process;positive regulation of MAPK cascade;cellular protein metabolic process;negative regulation of cell differentiation;negative regulation of bone resorption;protein homooligomerization;positive regulation of protein kinase B signaling;amylin receptor signaling pathway;negative regulation of amyloid fibril formation
• Cellular component: extracellular region;extracellular space;neuronal cell body
• Molecular function: amyloid-beta binding;signaling receptor binding;hormone activity;protein binding;identical protein binding