ADAM15

ADAM metallopeptidase domain 15, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 1:155050566-155062775

Links

ENSG00000143537

∙ NCBI:8751 ∙ OMIM:605548 ∙ HGNC:193 ∙ Uniprot:Q13444 ∙ 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 ADAM15 gene.

not_specified (129 variants)
not_provided (5 variants)
EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207197.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	5 clinvar		6
missense			117 clinvar	9 clinvar	1 clinvar	127
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	118	14	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM15	protein_coding	protein_coding	ENST00000356955	23	12211

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.44e-16	0.945	125629	0	119	125748	0.000473

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.07	433	500	0.865	0.0000290	5463
Missense in Polyphen		156	192.72	0.80945		2233
Synonymous	1.42	177	203	0.874	0.0000113	1831
Loss of Function	2.35	33	51.1	0.646	0.00000298	501

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00115	0.00112
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00109	0.00103
Finnish	0.00	0.00
European (Non-Finnish)	0.000440	0.000422
Middle Eastern	0.00109	0.00103
South Asian	0.000694	0.000686
Other	0.000854	0.000815

dbNSFP

Source: dbNSFP

Function: FUNCTION: Active metalloproteinase with gelatinolytic and collagenolytic activity. Plays a role in the wound healing process. Mediates both heterotypic intraepithelial cell/T-cell interactions and homotypic T-cell aggregation. Inhibits beta-1 integrin-mediated cell adhesion and migration of airway smooth muscle cells. Suppresses cell motility on or towards fibronectin possibly by driving alpha-v/beta-1 integrin (ITAGV-ITGB1) cell surface expression via ERK1/2 inactivation. Cleaves E-cadherin in response to growth factor deprivation. Plays a role in glomerular cell migration. Plays a role in pathological neovascularization. May play a role in cartilage remodeling. May be proteolytically processed, during sperm epididymal maturation and the acrosome reaction. May play a role in sperm-egg binding through its disintegrin domain. {ECO:0000269|PubMed:12091380, ECO:0000269|PubMed:15358598, ECO:0000269|PubMed:15818704, ECO:0000269|PubMed:17416588, ECO:0000269|PubMed:17575078, ECO:0000269|PubMed:18387333, ECO:0000269|PubMed:18434311}.;
Pathway: Invadopodia formation;Extracellular matrix organization;Degradation of the extracellular matrix;Alpha9 beta1 integrin signaling events (Consensus)

Recessive Scores

pRec: 0.138

Intolerance Scores

loftool: 0.987
rvis_EVS: -0.57
rvis_percentile_EVS: 19.01

Haploinsufficiency Scores

pHI: 0.104
hipred: Y
hipred_score: 0.678
ghis: 0.532

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.687

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Adam15
Phenotype: neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype;

Gene ontology

Biological process: angiogenesis;negative regulation of cell-matrix adhesion;immune response to tumor cell;proteolysis;apoptotic process;cell-matrix adhesion;integrin-mediated signaling pathway;male gonad development;extracellular matrix disassembly;extracellular matrix organization;negative regulation of cell growth;negative regulation of cell migration;collagen catabolic process;tissue regeneration;innate immune response;cardiac epithelial to mesenchymal transition;negative regulation of receptor binding;cellular response to phorbol 13-acetate 12-myristate;response to hypobaric hypoxia
Cellular component: acrosomal vesicle;plasma membrane;adherens junction;cell surface;integral component of membrane;motile cilium;extracellular exosome
Molecular function: metalloendopeptidase activity;integrin binding;protein binding;metallopeptidase activity;SH3 domain binding;metal ion binding