ADAM7

protein-coding

ADAM metallopeptidase domain 7, the group of ADAM metallopeptidase domain containing

Gene summary

This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]

MANE transcript

NM_003817.4

Inheritance

—

ClinVar variants

U:126B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr8:24,440,930-24,526,970

External References & Databases

Ensembl (ENSG00000069206)

Transcript & Mutation Effects

hg38 • Region Span ~86.0 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 ADAM7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 132

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003817.4. 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			125 clinvar	6 clinvar		131
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	126	8	0	134

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003817.4	RefSeq	NP_003808.2	22	MANE Select
ENST00000175238.10	Ensembl	ENSP00000175238.5	22	MANE Select
ENST00000380789.5	Ensembl	ENSP00000370166.1	23	Standard
ENST00000380789.6	Ensembl	ENSP00000370166.1	23	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

Molecular Function

metalloendopeptidase activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000175238
Coding exons: 21
Length: 86041
Individuals with no LoFs: 125067
Homozygous LoFs: 5
Heterozygous LoFs: 673
Defined: 125745
p: 0.00270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.505	427	399	1.07	0.0000196	4993
Missense (PolyPhen)		142	141.27	1.0051		1857
Synonymous	-0.147	143	141	1.02	0.00000757	1316
Loss of Function	1.38	35	45.0	0.778	0.00000215	602

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00058	0.00055	rare
Latino/Admixed American	0.0084	0.0083	notable
Ashkenazi Jewish	0.0058	0.0058	notable
East Asian	0.0039	0.0039	notable
Finnish	0.0064	0.0064	notable
European (Non-Finnish)	0.00076	0.00075	rare
South Asian	0.00043	0.00039	rare
Other	0.0032	0.0031	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0897

Intolerance Scores

LoFtool: 0.987
RVIS EVS: 0.12
RVIS percentile EVS: 62.21

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0820

Gene Damage Prediction

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