ADAM11

protein-coding

ADAM metallopeptidase domain 11, the group of ADAM metallopeptidase domain containing

Gene summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein 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 encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

Previous symbols:

MANE transcript

NM_002390.6

Inheritance

—

ClinVar variants

U:107B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.36

Max pathogenic AF

—

Genomic locus

chr17:44,758,988-44,781,846

External References & Databases

Ensembl (ENSG00000073670)

Transcript & Mutation Effects

hg38 • Region Span ~22.9 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 ADAM11 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 103

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002390.6. 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	2 clinvar	1 clinvar	4
missense			102 clinvar	6 clinvar		108
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	107	8	1	116

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002390.6	RefSeq	NP_002381.2	27	MANE Select
ENST00000200557.11	Ensembl	ENSP00000200557.6	27	MANE Select
NM_001318933.2	RefSeq	NP_001305862.1	21	Standard
ENST00000355638.8	Ensembl	ENSP00000347856.4	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Developmental Biology
LGI-ADAM interactions

Biological Process

proteolysis
integrin-mediated signaling pathway

Molecular Function

metalloendopeptidase activity
integrin binding
metallopeptidase activity

Cellular Component

plasma membrane
integral component of membrane
collagen-containing extracellular matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000200557
Coding exons: 27
Length: 22816
Individuals with no LoFs: 125727
Homozygous LoFs: 0
Heterozygous LoFs: 20
Defined: 125747
p: 0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.63	299	457	0.654	0.0000274	4952
Missense (PolyPhen)		53	147.6	0.35908		1580
Synonymous	1.47	157	182	0.862	0.0000113	1518
Loss of Function	4.21	18	50.2	0.358	0.00000252	544

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.000071	0.000070	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein.;

Recessive Scores

pRec: 0.115

Intolerance Scores

LoFtool: 0.640
RVIS EVS: -1.07
RVIS percentile EVS: 7.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.627

Gene Damage Prediction

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