ADAM12

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

Basic information

Region (hg38): 10:126012381-126388477

Links

ENSG00000148848NCBI:8038OMIM:602714HGNC:190Uniprot:O43184AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
3
clinvar
5
missense
96
clinvar
7
clinvar
2
clinvar
105
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 96 9 5
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ADAM12protein_codingprotein_codingENST00000368679 23376075
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.73e-71.001257050431257480.000171
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.274385190.8430.00002975925
Missense in Polyphen152222.910.68192491
Synonymous0.1031961980.9910.00001231774
Loss of Function3.771946.90.4050.00000245551

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001810.000181
Ashkenazi Jewish0.000.00
East Asian0.0002720.000272
Finnish0.0001850.000185
European (Non-Finnish)0.0002210.000220
Middle Eastern0.0002720.000272
South Asian0.0001640.000163
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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