ADAM20

protein-coding

ADAM metallopeptidase domain 20, the group of ADAM metallopeptidase domain containing

Gene summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq, Jul 2008]

MANE transcript

NM_003814.5

Inheritance

ClinVar variants

U:111B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr14:70,522,358-70,535,015

External References & Databases

Ensembl (ENSG00000134007)

Transcript & Mutation Effects

hg38 • Region Span ~12.7 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

male infertilityLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0005372

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ADAM20 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 120

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003814.5. 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				1 clinvar		1
missense			110 clinvar	10 clinvar		120
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	111	11	0	122

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003814.5	RefSeq	NP_003805.4	1	MANE Select
ENST00000256389.5	Ensembl	ENSP00000256389.3	1	MANE Select
ENST00000652041.1	Ensembl	ENSP00000498512.1	1	Standard
ENST00000652041.2	Ensembl	ENSP00000498512.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Interaction With The Zona Pellucida
Fertilization
Reproduction

Biological Process

proteolysis
single fertilization
binding of sperm to zona pellucida

Molecular Function

metalloendopeptidase activity
metallopeptidase activity
metal ion binding

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000256389
Coding exons: 1
Length: 12658

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.541	440	409	1.08	0.0000200	5167
Missense (PolyPhen)		94	95.6	0.98326		1231
Synonymous	0.0637	148	149	0.993	0.00000727	1466
Loss of Function

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in sperm maturation and/or fertilization.;

Recessive Scores

pRec: 0.0723

Intolerance Scores

LoFtool: 0.757
RVIS EVS: -0.13
RVIS percentile EVS: 44.03

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0241

Gene Damage Prediction

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