ADAM2

ADAM metallopeptidase domain 2, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 8:39743735-39838227

Previous symbols: [ "FTNB" ]

Links

ENSG00000104755

∙ NCBI:2515 ∙ OMIM:601533 ∙ HGNC:198 ∙ Uniprot:Q99965 ∙ 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 ADAM2 gene.

not_specified (91 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001464.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			86 clinvar	5 clinvar		91
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	88	5	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM2	protein_coding	protein_coding	ENST00000265708	20	94555

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.89e-22	0.00555	125279	1	467	125747	0.00186

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.651	413	377	1.09	0.0000184	4851
Missense in Polyphen		97	95.141	1.0195		1273
Synonymous	-1.08	147	131	1.12	0.00000705	1268
Loss of Function	0.645	36	40.4	0.890	0.00000170	577

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0173	0.0171
Ashkenazi Jewish	0.000410	0.000397
East Asian	0.000751	0.000707
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000852	0.000844
Middle Eastern	0.000751	0.000707
South Asian	0.00106	0.00101
Other	0.000992	0.000978

dbNSFP

Source: dbNSFP

Function: FUNCTION: Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein.;
Pathway: Interaction With The Zona Pellucida;Fertilization;Reproduction;Alpha9 beta1 integrin signaling events (Consensus)

Recessive Scores

pRec: 0.116

Intolerance Scores

loftool: 0.573
rvis_EVS: 0.87
rvis_percentile_EVS: 88.87

Haploinsufficiency Scores

pHI: 0.241
hipred: N
hipred_score: 0.112
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.346

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Adam2
Phenotype: reproductive system phenotype;

Gene ontology

Biological process: proteolysis;cell adhesion;binding of sperm to zona pellucida;fusion of sperm to egg plasma membrane involved in single fertilization;visual learning;positive regulation of gene expression;adult behavior
Cellular component: plasma membrane;integral component of plasma membrane;cell surface;protein-containing complex
Molecular function: metalloendopeptidase activity;integrin binding;metallopeptidase activity