ADAM8

ADAM metallopeptidase domain 8, the group of ADAM metallopeptidase domain containing|CD molecules

Basic information

Region (hg38): 10:133262420-133276868

Links

ENSG00000151651 ∙ NCBI:101 ∙ OMIM:602267 ∙ HGNC:215 ∙ Uniprot:P78325 ∙ 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 ADAM8 gene.

• not_specified (165 variants)
• not_provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001109.5. 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				17	1	18
missense			138	21	3	162
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	140	38	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM8	protein_coding	protein_coding	ENST00000445355	23	14466

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.20e-14	0.821	124578	4	897	125479	0.00360

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.380	467	491	0.952	0.0000326	5210
Missense in Polyphen		186	192.94	0.96401		2104
Synonymous	-1.26	241	217	1.11	0.0000162	1670
Loss of Function	1.94	28	41.5	0.675	0.00000204	472

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00377	0.00375
Ashkenazi Jewish	0.0152	0.0145
East Asian	0.00709	0.00699
Finnish	0.000707	0.000693
European (Non-Finnish)	0.00394	0.00385
Middle Eastern	0.00709	0.00699
South Asian	0.00135	0.00131
Other	0.00585	0.00573

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible involvement in extravasation of leukocytes.
• Pathway: Neutrophil degranulation;Extracellular matrix organization;Innate Immune System;Immune System;Degradation of the extracellular matrix;Alpha9 beta1 integrin signaling events (Consensus)

Recessive Scores

• pRec: 0.143

Haploinsufficiency Scores

• pHI: 0.354
• hipred: N
• hipred_score: 0.172
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam8
• Phenotype: normal phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype; immune system phenotype; skeleton phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: adam8a
• Affected structure: nucleate erythrocyte
• Phenotype tag: abnormal
• Phenotype quality: increased accumulation

Gene ontology

• Biological process: cell morphogenesis;angiogenesis;leukocyte migration involved in inflammatory response;positive regulation of acute inflammatory response;proteolysis;inflammatory response;positive regulation of protein processing;regulation of cell-cell adhesion;extracellular matrix disassembly;positive regulation of T cell differentiation in thymus;neutrophil degranulation;positive regulation of MAP kinase activity;negative regulation of neuron apoptotic process;positive regulation of innate immune response;positive regulation of bone resorption;positive regulation of cell adhesion;lymphocyte chemotaxis;positive regulation of protein secretion;positive regulation of membrane protein ectodomain proteolysis;positive regulation of NF-kappaB transcription factor activity;positive regulation of protein kinase B signaling;positive regulation of thymocyte apoptotic process;cellular response to hypoxia;cell-cell adhesion;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;positive regulation of neutrophil extravasation;positive regulation of fibronectin-dependent thymocyte migration;positive regulation of eosinophil migration
• Cellular component: podosome;cytoplasm;plasma membrane;integral component of plasma membrane;cell surface;phagolysosome;dense core granule membrane;specific granule membrane;specific granule;tertiary granule;tertiary granule membrane;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;alpha9-beta1 integrin-ADAM8 complex;ficolin-1-rich granule membrane
• Molecular function: metalloendopeptidase activity;serine-type endopeptidase activity;calcium ion binding;protein binding;metallopeptidase activity;zinc ion binding;protein self-association;cell adhesion molecule binding