ADAM12

ADAM metallopeptidase domain 12, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 10:126012381-126388477

Links

ENSG00000148848 ∙ NCBI:8038 ∙ OMIM:602714 ∙ HGNC:190 ∙ Uniprot:O43184 ∙ 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 ADAM12 gene.

• not_specified (103 variants)
• not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001288973.2. 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				2	3	5
missense			96	7	2	105
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	96	9	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM12	protein_coding	protein_coding	ENST00000368679	23	376075

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.73e-7	1.00	125705	0	43	125748	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	438	519	0.843	0.0000297	5925
Missense in Polyphen		152	222.91	0.6819		2491
Synonymous	0.103	196	198	0.991	0.0000123	1774
Loss of Function	3.77	19	46.9	0.405	0.00000245	551

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000221	0.000220
Middle Eastern	0.000272	0.000272
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity). {ECO:0000250}.
• Pathway: Signal Transduction;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;Invadopodia formation;Extracellular matrix organization;Signaling by EGFR;Notch signaling pathway;Signaling by Receptor Tyrosine Kinases;Alpha9 beta1 integrin signaling events;Syndecan-4-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.232

Intolerance Scores

• loftool: 0.320
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.16

Haploinsufficiency Scores

• pHI: 0.654
• hipred: Y
• hipred_score: 0.718
• ghis: 0.461

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.436

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam12
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); muscle phenotype; 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); 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); vision/eye phenotype

Gene ontology

• Biological process: proteolysis;cell adhesion;myoblast fusion;extracellular matrix organization;positive regulation of angiogenesis
• Cellular component: extracellular region;nucleoplasm;plasma membrane;integral component of membrane
• Molecular function: metalloendopeptidase activity;metallopeptidase activity;SH3 domain binding;metal ion binding