AMY2B

protein-coding

amylase alpha 2B, the group of Amylases alpha

Gene summary

Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013]

Previous symbols:

AMY2

MANE transcript

NM_001387437.1

Inheritance

—

ClinVar variants

U:104B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.33

Max pathogenic AF

—

Genomic locus

chr1:103,553,815-103,579,534

External References & Databases

Ensembl (ENSG00000240038)

Transcript & Mutation Effects

hg38 • Region Span ~25.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AMY2B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 105

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001387437.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			101 clinvar	7 clinvar		108
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	104	9	0	113

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001387437.1	RefSeq	NP_001374366.1	10	MANE Select
ENST00000684275.1	Ensembl	ENSP00000507176.1	10	MANE Select
NM_001386109.1	RefSeq	NP_001373038.1	10	Standard
NM_020978.4	RefSeq	NP_066188.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Starch and sucrose metabolism - Homo sapiens (human)
Carbohydrate digestion and absorption - Homo sapiens (human)
Pancreatic secretion - Homo sapiens (human)
Digestion of dietary carbohydrate
Endohydrolysis of 1,4-alpha-D-glucosidic linkages in polysaccharides by alpha-amylase

Biological Process

carbohydrate metabolic process

Molecular Function

alpha-amylase activity
metal ion binding
alpha-amylase activity (releasing maltohexaose)

Cellular Component

extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000361355
Coding exons: 10
Length: 25720
Individuals with no LoFs: 125565
Homozygous LoFs: 0
Heterozygous LoFs: 167
Defined: 125732
p: 0.000664

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.52	388	271	1.43	0.0000144	3394
Missense (PolyPhen)		135	107.19	1.2594		1392
Synonymous	-1.55	104	85.7	1.21	0.00000425	919
Loss of Function	-1.64	39	29.4	1.33	0.00000181	293

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00055	0.00055	rare
Latino/Admixed American	0.0010	0.00098	notable
Ashkenazi Jewish	0.00050	0.00050	rare
East Asian	0.00076	0.00076	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00042	0.00042	rare
South Asian	0.0017	0.0017	notable
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.387

Intolerance Scores

LoFtool: 0.232
RVIS EVS: 0.11
RVIS percentile EVS: 62

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.273

Gene Damage Prediction

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