Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ADAM12 Gene

Aliases for ADAM12 Gene

  • ADAM Metallopeptidase Domain 12 2 3 5
  • Meltrin-Alpha 3 4
  • MLTN 3 4
  • Disintegrin And Metalloproteinase Domain-Containing Protein 12 3
  • A Disintegrin And Metalloproteinase Domain 12 (Meltrin Alpha) 2
  • Metalloprotease-Disintegrin 12 Transmembrane 3
  • Meltrin Alpha 2
  • EC 3.4.24.58 61
  • EC 3.4.24.- 4
  • ADAM12-OT1 3
  • MCMPMltna 3
  • EC 3.4.24 61
  • ADAM 12 4
  • CAR10 3
  • MLTNA 3
  • MCMP 3

External Ids for ADAM12 Gene

Previous GeneCards Identifiers for ADAM12 Gene

  • GC10M126678
  • GC10M126907
  • GC10M127744
  • GC10M127278
  • GC10M127693
  • GC10M121392

Summaries for ADAM12 Gene

Entrez Gene Summary for ADAM12 Gene

  • This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]

GeneCards Summary for ADAM12 Gene

ADAM12 (ADAM Metallopeptidase Domain 12) is a Protein Coding gene. Diseases associated with ADAM12 include Skeletal Muscle Regeneration and Ectopic Pregnancy. Among its related pathways are MAPK-Erk Pathway and Development Dopamine D2 receptor transactivation of EGFR. GO annotations related to this gene include SH3 domain binding and metallopeptidase activity. An important paralog of this gene is ADAM19.

UniProtKB/Swiss-Prot for ADAM12 Gene

  • 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).

Gene Wiki entry for ADAM12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAM12 Gene

Genomics for ADAM12 Gene

Regulatory Elements for ADAM12 Gene

Enhancers for ADAM12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F126227 1.3 FANTOM5 Ensembl ENCODE 13.7 +160.6 160574 1.7 CTCF YBX1 ATF2 CTBP1 JUND TARDBP ZNF580 FOS ZNF600 MAFK ADAM12 GC10M126242 RNA5SP328
GH10F126242 1.6 FANTOM5 Ensembl ENCODE 8.2 +143.2 143189 6.6 PKNOX1 SIN3A FEZF1 BRCA1 ZNF2 GLIS2 FOS SP3 REST TSHZ1 ADAM12 GC10M126242 GC10M126270 PIR55719
GH10F126420 1 Ensembl ENCODE 11.6 -34.9 -34945 5.9 TBP PKNOX1 TAF1 JUN GTF3C2 NFYB RCOR1 NFE2 FOS MAFK EDRF1-AS1 ADAM12 LOC728158 LOC105378549
GH10F126409 0.7 ENCODE 12 -20.7 -20669 0.2 CEBPB ZNF501 ZNF2 EP300 ZBTB7A ATF2 POLR2A PATZ1 ZNF391 ZNF600 ADAM12 GC10P126409
GH10F126058 1.5 FANTOM5 Ensembl ENCODE 4.6 +327.2 327191 6.6 TBP INSM2 KLF17 SIN3A RAD21 FOS EGR2 CEBPB REST TSHZ1 ADAM12 UROS MMP21 GC10M126013 RNA5SP328
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAM12 on UCSC Golden Path with GeneCards custom track

Promoters for ADAM12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000363750 858 2201 CTCF SIN3A ZIC2 RAD21 ZEB1 GLIS2 POLR2A PATZ1 SCRT2 SMC3

Genomic Location for ADAM12 Gene

Chromosome:
10
Start:
126,012,381 bp from pter
End:
126,388,558 bp from pter
Size:
376,178 bases
Orientation:
Minus strand

Genomic View for ADAM12 Gene

Genes around ADAM12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAM12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAM12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAM12 Gene

Proteins for ADAM12 Gene

  • Protein details for ADAM12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43184-ADA12_HUMAN
    Recommended name:
    Disintegrin and metalloproteinase domain-containing protein 12
    Protein Accession:
    O43184
    Secondary Accessions:
    • O60470
    • Q5JRP0
    • Q5JRP1
    • Q6P9E3
    • Q6UWB0

    Protein attributes for ADAM12 Gene

    Size:
    909 amino acids
    Molecular mass:
    99542 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with alpha-actinin-2 and with syndecans (By similarity). Interacts with SH3PXD2A. Interacts with FST3. Interacts with RACK1; the interaction is required for PKC-dependent translocation of ADAM12 to the cell membrane.

    Alternative splice isoforms for ADAM12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAM12 Gene

Selected DME Specific Peptides for ADAM12 Gene

O43184:
  • EEGEECDCG
  • GEECDCG
  • CCNATTC

Post-translational modifications for ADAM12 Gene

  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylation at Asn 111, Asn 149, Asn 381, Asn 452, and Asn 651
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for ADAM12
  • Santa Cruz Biotechnology (SCBT) Antibodies for ADAM12

Domains & Families for ADAM12 Gene

Gene Families for ADAM12 Gene

Suggested Antigen Peptide Sequences for ADAM12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43184

UniProtKB/Swiss-Prot:

ADA12_HUMAN :
  • The cysteine-rich domain supports cell adhesion through syndecans and triggers signaling events that lead to beta-1 integrin-dependent cell spreading. In carcinomas cells the binding of this domain to syndecans does not allow the integrin-mediated cell spreading.
Domain:
  • The cysteine-rich domain supports cell adhesion through syndecans and triggers signaling events that lead to beta-1 integrin-dependent cell spreading. In carcinomas cells the binding of this domain to syndecans does not allow the integrin-mediated cell spreading.
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
  • Contains 1 disintegrin domain.
  • Contains 1 EGF-like domain.
  • Contains 1 peptidase M12B domain.
genes like me logo Genes that share domains with ADAM12: view

Function for ADAM12 Gene

Molecular function for ADAM12 Gene

GENATLAS Biochemistry:
a disintegrin and metalloprotease (active) domain 12,membrane anchored cell surface protein,with two alternatively spliced isoforms L and S,expressed in term placenta,in adult skeletal,cardiac,smooth muscle,bone,required for myotube formation and in osteoblast differentiation,involved in tumor cell adhesion
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for ADAM12 Gene

Gene Ontology (GO) - Molecular Function for ADAM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA,TAS 9417060
GO:0016787 hydrolase activity IEA --
GO:0017124 SH3 domain binding IEA,IPI 15280379
genes like me logo Genes that share ontologies with ADAM12: view
genes like me logo Genes that share phenotypes with ADAM12: view

Animal Models for ADAM12 Gene

MGI Knock Outs for ADAM12:

Animal Model Products

miRNA for ADAM12 Gene

miRTarBase miRNAs that target ADAM12

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADAM12 Gene

Localization for ADAM12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAM12 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.
Isoform 3: Secreted.
Isoform 4: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAM12 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
mitochondrion 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ADAM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005886 plasma membrane IEA,IDA 15280379
genes like me logo Genes that share ontologies with ADAM12: view

Pathways & Interactions for ADAM12 Gene

genes like me logo Genes that share pathways with ADAM12: view

SIGNOR curated interactions for ADAM12 Gene

Activates:

Gene Ontology (GO) - Biological Process for ADAM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007155 cell adhesion IEA --
GO:0007520 myoblast fusion TAS 7566181
genes like me logo Genes that share ontologies with ADAM12: view

Drugs & Compounds for ADAM12 Gene

(1) Drugs for ADAM12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ADAM12: view

Transcripts for ADAM12 Gene

Unigene Clusters for ADAM12 Gene

ADAM metallopeptidase domain 12:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAM12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
SP1: -
SP2: -
SP3: -
SP4:

Relevant External Links for ADAM12 Gene

GeneLoc Exon Structure for
ADAM12
ECgene alternative splicing isoforms for
ADAM12

Expression for ADAM12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAM12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAM12 Gene

This gene is overexpressed in Ovary (x4.1).

Protein differential expression in normal tissues from HIPED for ADAM12 Gene

This gene is overexpressed in Placenta (47.9) and Heart (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADAM12 Gene



Protein tissue co-expression partners for ADAM12 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAM12 Gene:

ADAM12

SOURCE GeneReport for Unigene cluster for ADAM12 Gene:

Hs.594351

mRNA Expression by UniProt/SwissProt for ADAM12 Gene:

O43184-ADA12_HUMAN
Tissue specificity: Isoform 1 is expressed in placenta and skeletal, cardiac, and smooth muscle. Isoform 2 seems to be expressed only in placenta or in embryo and fetus. Both forms were expressed in some tumor cells lines. Not detected in brain, lung, liver, kidney or pancreas.
genes like me logo Genes that share expression patterns with ADAM12: view

Primer Products

Orthologs for ADAM12 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAM12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAM12 34 35
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia ADAM12 34 35
  • 85.83 (n)
cow
(Bos Taurus)
Mammalia ADAM12 34 35
  • 84.76 (n)
mouse
(Mus musculus)
Mammalia Adam12 34 16 35
  • 83.26 (n)
rat
(Rattus norvegicus)
Mammalia Adam12 34
  • 82.93 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAM12 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAM12 34 35
  • 72.81 (n)
lizard
(Anolis carolinensis)
Reptilia ADAM12 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adam12 34
  • 66.82 (n)
zebrafish
(Danio rerio)
Actinopterygii adam12 34 35
  • 66.59 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013468 34
  • 46.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta mmd 36
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea adm-2 34
  • 44.74 (n)
adm-1 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for ADAM12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADAM12 Gene

ENSEMBL:
Gene Tree for ADAM12 (if available)
TreeFam:
Gene Tree for ADAM12 (if available)

Paralogs for ADAM12 Gene

(17) SIMAP similar genes for ADAM12 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ADAM12: view

Variants for ADAM12 Gene

Sequence variations from dbSNP and Humsavar for ADAM12 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs151030407 A cutaneous metastatic melanoma sample 126,017,332(+) TTGTG(A/C/G)AGCAG reference, missense
VAR_036143 A breast cancer sample
VAR_036144 A breast cancer sample
VAR_036145 A breast cancer sample
VAR_066310 A cutaneous metastatic melanoma sample

Structural Variations from Database of Genomic Variants (DGV) for ADAM12 Gene

Variant ID Type Subtype PubMed ID
esv3624859 CNV loss 21293372
esv3891896 CNV gain 25118596
esv7617 CNV loss 19470904
nsv1045509 CNV gain 25217958
nsv1070897 CNV deletion 25765185
nsv1111043 CNV tandem duplication 24896259
nsv1145489 CNV deletion 24896259
nsv1146258 CNV deletion 26484159
nsv467477 CNV loss 19166990
nsv512190 CNV loss 21212237
nsv516813 CNV gain+loss 19592680
nsv524124 CNV loss 19592680
nsv552294 CNV loss 21841781
nsv7600 CNV insertion 18451855
nsv8739 CNV gain 18304495
esv3624858 CNV loss 21293372
esv3624857 CNV loss 21293372
esv3624855 CNV gain 21293372
esv3624854 CNV gain 21293372
esv3624853 CNV loss 21293372
esv3624852 CNV gain 21293372
esv3624850 CNV gain 21293372
esv3624849 CNV gain 21293372
esv3624848 CNV loss 21293372
esv3579217 CNV loss 25503493
esv3547005 CNV deletion 23714750
esv3260163 CNV deletion 24192839
esv3244 CNV loss 18987735
esv2762885 CNV loss 21179565
esv2761638 CNV loss 21179565
esv2759788 CNV gain 17122850
esv275509 CNV loss 21479260
esv2665460 CNV deletion 23128226
esv2658457 CNV deletion 23128226
esv2557304 CNV insertion 19546169
esv2493187 CNV deletion 19546169
esv2396699 CNV deletion 18987734
esv2286058 CNV deletion 18987734
esv1413579 CNV deletion 17803354
esv1412557 CNV insertion 17803354
esv1001364 CNV deletion 20482838
dgv533n106 CNV deletion 24896259
dgv172e199 CNV deletion 23128226

Variation tolerance for ADAM12 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.38; 54.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAM12 Gene

Human Gene Mutation Database (HGMD)
ADAM12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAM12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAM12 Gene

Disorders for ADAM12 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ADAM12 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
skeletal muscle regeneration
  • nonaka myopathy
ectopic pregnancy
  • eccyesis
giant cell tumor
  • giant cell neoplasm
orofaciodigital syndrome viii
  • edwards syndrome
preeclampsia/eclampsia 1
  • preeclampsia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ADAM12

Genetic Association Database (GAD)
ADAM12
Human Genome Epidemiology (HuGE) Navigator
ADAM12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAM12
genes like me logo Genes that share disorders with ADAM12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAM12 Gene

Publications for ADAM12 Gene

  1. A novel, secreted form of human ADAM 12 (meltrin alpha) provokes myogenesis in vivo. (PMID: 9417060) Gilpin B.J. … Wewer U.M. (J. Biol. Chem. 1998) 2 3 4 22 64
  2. A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease. (PMID: 19837132) Laumet G. … Lambert J.C. (Neurosci. Lett. 2010) 3 22 46 64
  3. Missense single nucleotide polymorphism of the ADAM12 gene is associated with radiographic knee osteoarthritis in middle-aged Estonian cohort. (PMID: 19268722) Kerna I. … Tamm A.O. (Osteoarthr. Cartil. 2009) 3 22 46 64
  4. Cellular roles of ADAM12 in health and disease. (PMID: 18342566) Kveiborg M. … Wewer U.M. (Int. J. Biochem. Cell Biol. 2008) 2 3 22 64
  5. RACK1, a new ADAM12 interacting protein. Contribution to liver fibrogenesis. (PMID: 18621736) Bourd-Boittin K. … Theret N. (J. Biol. Chem. 2008) 3 4 22 64

Products for ADAM12 Gene

Sources for ADAM12 Gene

Content
Loading form....