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Aliases for ADAM12 Gene

Aliases for ADAM12 Gene

  • ADAM Metallopeptidase Domain 12 2 3 5
  • Meltrin-Alpha 3 4
  • MLTN 3 4
  • A Disintegrin And Metalloproteinase Domain 12 (Meltrin Alpha) 2
  • Metalloprotease-Disintegrin 12 Transmembrane 3
  • Meltrin Alpha 2
  • EC 3.4.24.58 63
  • EC 3.4.24.- 4
  • ADAM12-OT1 3
  • MCMPMltna 3
  • EC 3.4.24 63
  • 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 cone-rod dystrophy 9 and skeletal muscle regeneration. Among its related pathways are Notch Signaling Pathway (sino) and Matrix Metalloproteinases. GO annotations related to this gene include SH3 domain binding and metallopeptidase activity. An important paralog of this gene is ADAM33.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ADAM12 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ADAM12 Gene at MOPED

Selected DME Specific Peptides for ADAM12 Gene

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

Other Protein References for ADAM12 Gene

Antibody Products

Protein Products

  • Enzo Life Sciences proteins 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 --
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

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
Jensen Localization Image for ADAM12 Gene COMPARTMENTS Subcellular localization image for ADAM12 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ADAM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
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

Pathways by source for ADAM12 Gene

1 Sino Biological pathway for ADAM12 Gene
2 BioSystems pathways for ADAM12 Gene
2 Reactome pathways for ADAM12 Gene

SIGNOR curated interactions for ADAM12 Gene

Activates:

Gene Ontology (GO) - Biological Process for ADAM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
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:

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 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, MOPED, and MaxQB for ADAM12 Gene



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

Protein tissue co-expression partners for ADAM12 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ADAM12 35
  • 84.76 (n)
  • 83.49 (a)
ADAM12 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADAM12 35
  • 85.83 (n)
  • 84.89 (a)
ADAM12 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adam12 35
  • 82.93 (n)
  • 82.67 (a)
chimpanzee
(Pan troglodytes)
Mammalia ADAM12 35
  • 99.2 (n)
  • 98.64 (a)
ADAM12 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adam12 35
  • 83.26 (n)
  • 81.96 (a)
Adam12 16
Adam12 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADAM12 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAM12 35
  • 72.81 (n)
  • 73.11 (a)
ADAM12 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAM12 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adam12 35
  • 66.82 (n)
  • 66.63 (a)
zebrafish
(Danio rerio)
Actinopterygii adam12 35
  • 66.59 (n)
  • 65.33 (a)
adam12 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mmd 37
  • 35 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013468 35
  • 46.66 (n)
  • 36.65 (a)
worm
(Caenorhabditis elegans)
Secernentea adm-2 35
  • 44.74 (n)
  • 31.42 (a)
adm-1 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for ADAM12:
  • 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
VAR_036143 A breast cancer sample
VAR_036144 A breast cancer sample
VAR_036145 A breast cancer sample
rs3740199 - 126,330,456(+) ACTCC(A/C/G)AACAG reference, missense
VAR_066310 A cutaneous metastatic melanoma sample

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

Variant ID Type Subtype PubMed ID
dgv324e1 CNV Complex 17122850
esv2743006 CNV Deletion 23290073
esv2493187 CNV Deletion 19546169
nsv512190 CNV Loss 21212237
esv2286058 CNV Deletion 18987734
esv3244 CNV Deletion 18987735
esv2743017 CNV Deletion 23290073
esv2665460 CNV Deletion 23128226
esv1001364 CNV Deletion 20482838
esv7617 CNV Loss 19470904
esv1413579 CNV Deletion 17803354
nsv516813 CNV Gain+Loss 19592680
nsv896087 CNV Gain 21882294
nsv8739 CNV Gain 18304495
esv1412557 CNV Insertion 17803354
esv2743029 CNV Deletion 23290073
nsv896088 CNV Gain 21882294
nsv896089 CNV Loss 21882294
esv2743040 CNV Deletion 23290073
esv2396699 CNV Deletion 18987734
esv275509 CNV Loss 21479260
nsv7600 CNV Insertion 18451855
esv2557304 CNV Insertion 19546169
nsv524124 CNV Loss 19592680
nsv896090 CNV Loss 21882294
nsv467477 CNV Loss 19166990
dgv172e199 CNV Deletion 23128226
esv2658457 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

HapMap Linkage Disequilibrium report
ADAM12
Human Gene Mutation Database (HGMD)
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: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 9
  • retinitis pigmentosa 9
skeletal muscle regeneration
  • nonaka myopathy
ectopic pregnancy
  • eccyesis
giant cell tumor
  • giant cell neoplasm
orofaciodigital syndrome viii
  • edwards syndrome
- 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 23 67
  2. Cellular roles of ADAM12 in health and disease. (PMID: 18342566) Kveiborg M. … Wewer U.M. (Int. J. Biochem. Cell Biol. 2008) 2 3 23
  3. Association between paternal schizophrenia and low birthweight: ADAM12 may matter. (PMID: 20305677) Bernstein H.G. … Lendeckel U. (Asian J. Androl. 2010) 3 23
  4. ADAM12 localizes with c-Src to actin-rich structures at the cell periphery and regulates Src kinase activity. (PMID: 19769962) Stautz D. … Kveiborg M. (Exp. Cell Res. 2010) 3 23
  5. 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 23

Products for ADAM12 Gene

Sources for ADAM12 Gene

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