ADAM11

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

Basic information

Region (hg38): 17:44758988-44781846

Previous symbols: [ "MDC" ]

Links

ENSG00000073670 ∙ NCBI:4185 ∙ OMIM:155120 ∙ HGNC:189 ∙ Uniprot:O75078 ∙ 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 ADAM11 gene.

• not_specified (90 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002390.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			86	5		91
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	86	6	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM11	protein_coding	protein_coding	ENST00000200557	27	22816

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000104	1.00	125727	0	20	125747	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.63	299	457	0.654	0.0000274	4952
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000163
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.0000714	0.0000703
Middle Eastern	0.000167	0.000163
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein.
• Pathway: Developmental Biology;LGI-ADAM interactions (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.640
• rvis_EVS: -1.07
• rvis_percentile_EVS: 7.43

Haploinsufficiency Scores

• pHI: 0.148
• hipred: Y
• hipred_score: 0.711
• ghis: 0.695

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.627

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam11
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: proteolysis;integrin-mediated signaling pathway
• Cellular component: plasma membrane;integral component of membrane;collagen-containing extracellular matrix
• Molecular function: metalloendopeptidase activity;integrin binding;metallopeptidase activity