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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ADAM12 Gene

protein-coding GIFtS: 70
GCID: GC10M127693

ADAM metallopeptidase domain 12

(Previous name: a disintegrin and metalloproteinase domain 12 (meltrin...)

Explore 36 diseases affiliated with
ADAM12 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ADAM Metallopeptidase Domain 12¹ ²		Meltrin-Alpha¹
MLTN¹ ² ³ ⁵		EC 3.4.24.-³
MCMPMltna¹ ²		Meltrin-Alpha¹
A Disintegrin And Metalloproteinase Domain 12 (Meltrin Alpha)¹		ADAM 12³
MCMP²		EC 3.4.24⁸
MLTNA²		EC 3.4.24.58⁸
Disintegrin And Metalloproteinase Domain-Containing Protein 12²

External Ids:	HGNC: 190¹	Entrez Gene: 8038²	Ensembl: ENSG00000148848⁷	OMIM: 602714⁵	UniProtKB: O43184³

Export aliases for ADAM12 gene to outside databases

Previous GC identifers: GC10M126678 GC10M126907 GC10M127744 GC10M127278 GC10M121392

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ADAM12:

This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are

membrane-anchored proteins 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. This gene has two alternatively spliced transcripts: a shorter secreted form and a longer

membrane-bound form. The shorter form is found to stimulate myogenesis. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184

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)

Gene Wiki entry for ADAM12

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ADAM12 gene promoter:
POU2F1 Pbx1a POU2F1a MyoD C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ADAM12 promoter sequence

Search SABiosciences Chromatin IP Primers for ADAM12

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAM12

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26.3 Ensembl cytogenetic band: 10q26.2 HGNC cytogenetic band: 10q26

ADAM12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAM12 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M127693: view genomic region (about GC identifiers)

Start:	127,700,950 bp from pter	End:	128,077,127 bp from pter
Size:	376,178 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184 (See protein sequence)

Recommended Name: Disintegrin and metalloproteinase domain-containing protein 12 precursor

Size: 909 amino acids; 99542 Da

Cofactor: Binds 1 zinc ion per subunit

Subunit: Interacts with alpha-actinin-2 and with syndecans (By similarity). Interacts with SH3PXD2A. Interacts with

FST3. Interacts with GNB2L1/RACK1; the interaction is required for PKC-dependent translocation of ADAM12 to the cell

membrane

Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein

Subcellular location: Isoform 2: Secreted

Subcellular location: Isoform 3: Secreted (Potential)

Subcellular location: Isoform 4: Secreted (Potential)

Secondary accessions: O60470 Q5JRP0 Q5JRP1 Q6P9E3 Q6UWB0

Alternative splicing: 4 isoforms: O43184-1 O43184-2 O43184-3 O43184-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADAM12: NX_O43184

Post-translational modifications:

The precursor is cleaved by a furin endopeptidase (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O43184

3 DME Specific Peptides for ADAM12 (O43184)

CCNATTC

GEECDCG

EEGEECDCG

ADAM12 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_003465.3 NP_067673.2

ENSEMBL proteins:

ENSP00000357668 ENSP00000357665 ENSP00000391268

Reactome Protein details: O43184
Human Recombinant Protein Products:

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	Sino Biological Recombinant Protein for ADAM12
	ProSpec Recombinant Protein for ADAM12
	Uscn Proteins for ADAM12

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005739	mitochondrion	IDA	--
GO:0005886	plasma membrane	IDA	--

ADAM12 for ontologies About GeneDecksing

ADAM12 Antibody Products:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ADAM12

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ADAM12 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR018358 Disintegrin_CS

IPR024079 MetalloPept_cat_dom

IPR001762 Blood-coag_inhib_Disintegrin

IPR006586 ADAM_Cys-rich

IPR000742 EG-like_dom

Graphical View of Domain Structure for InterPro Entry O43184

ProtoNet protein and cluster: O43184

3 Blocks protein families:

IPB001762 Disintegrin

IPB002870 Metalloendopeptidase M12B

IPB006586 ADAM

UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184

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

Domain: 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

Similarity: Contains 1 disintegrin domain

Similarity: Contains 1 EGF-like domain

Similarity: Contains 1 peptidase M12B domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184

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)

Genatlas biochemistry entry for ADAM12:

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

Enzyme Numbers (IUBMB): EC 3.4.24.-¹ EC 3.4.24.58² EC 3.4.24²

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		hsa-miR-3607-3p hsa-miR-3653 hsa-miR-30d hsa-miR-759 hsa-miR-30a hsa-miR-3116 hsa-miR-4293 hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: ADAM12 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAM12

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004222	metalloendopeptidase activity	IEA	--
GO:0005515	protein binding	IPI	15574124
GO:0008237	metallopeptidase activity	TAS	9417060
GO:0008270	zinc ion binding	IEA	--
GO:0017124	SH3 domain binding	IPI	15280379

ADAM12 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Adam12^tm1Asf for ADAM12
     5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Adam12):

adipose tissue

cardiovascular system

mortality/aging

muscle

vision/eye

ADAM12 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Development_Dopamine D2 receptor transactivation of EGFR

	Development_Dopamine D2 receptor transactivation of EGFR	1.00			Development_Alpha-2 adrenergic receptor activation of ERK	0.66
	Development Dopamine D2 receptor transactivation of EGFR	1.00			Development Alpha-2 adrenergic receptor activation of ERK	0.66

Development Angiotensin activation of ERK

Development Angiotensin activation of ERK

1.00

Development_Angiotensin activation of ERK

0.98

Signaling by FGFR

Signaling by EGFR

0.84

Signaling by EGFR in Cancer

0.83

Disease

Disease

1.00

Notch signaling pathway

Notch signaling pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

4 EMD Millipore Pathways for ADAM12

	Development Alpha-2 adrenergic receptor activation of ERK
	Development Angiotensin activation of ERK
	Development Dopamine D2 receptor transactivation of EGFR
	Metalloproteases in connective tissue degradation

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ADAM12

Inhibition of Matrix Metalloproteinases

3 GeneGo (Thomson Reuters) Pathways for ADAM12

	Development Angiotensin activation of ERK
	Development Dopamine D2 receptor transactivation of EGFR
	Development Alpha-2 adrenergic receptor activation of ERK

2 BioSystems Pathways for ADAM12

	Notch signaling pathway
	Syndecan-4-mediated signaling events

4 Reactome Pathways for ADAM12

	Signal Transduction
	Signaling by EGFR in Cancer
	Signaling by EGFR
	Disease

ADAM12 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ADAM12

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/21 Interacting proteins for ADAM12 (O43184^{1, 2, 3} ENSP00000357668⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SH3D19	Q5HYK7²^,³, ENSP00000302913⁴	MINT-56613 MINT-56611 MINT-56614 MINT-56612 I2D: score=2 STRING: ENSP00000302913
FSTL3	O95633¹^,³, ENSP00000166139⁴	EBI-2625865,EBI-2625790 I2D: score=1 STRING: ENSP00000166139
ACTN2	P35609³, ENSP00000355537⁴	I2D: score=2 STRING: ENSP00000355537
IGFBP5	P24593³, ENSP00000233813⁴	I2D: score=2 STRING: ENSP00000233813
PIK3R1	P27986³, ENSP00000274335⁴	I2D: score=2 STRING: ENSP00000274335

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0007155	cell adhesion	IEA	--
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	--
GO:0007520	myoblast fusion	TAS	7566181

ADAM12 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ADAM12 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ADAM12
1 Novoseek chemical compound relationship for ADAM12 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ly294002	19.5	2	16139919 (1), 12717386 (1)

Search CenterWatch for drugs/clinical trials and news about ADAM12 / ADA12

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ADAM12 gene (2 alternative transcripts):

NM_003474.4 NM_021641.3

Unigene Cluster for ADAM12:

ADAM metallopeptidase domain 12

Hs.594351 [show with all ESTs]

Unigene Representative Sequence: NM_003474

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000368679(uc001ljk.2 uc010qul.1) ENST00000368676(uc001ljm.3 uc001ljn.3 uc001ljl.4)

ENST00000467145 ENST00000482291 ENST00000485388 ENST00000448723 ENST00000494661

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		8/84 QIAGEN miScript miRNA Assays for microRNAs that regulate ADAM12 (see all 84):
		hsa-miR-3607-3p hsa-miR-3653 hsa-miR-30d hsa-miR-759 hsa-miR-30a hsa-miR-3116 hsa-miR-4293 hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: ADAM12 3' UTR sequence

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Additional cDNA sequence:

AF023476.2 AF023477.2 AK022196.1 AK055628.1 AK127856.1 AK291629.1 AY358878.1 BC060804.1

24/55 DOTS entries (see all 55):

DT.95357317 DT.100761106 DT.100797831 DT.121223074 DT.95357338 DT.86853140 DT.92459374 DT.99980124

DT.95357321 DT.91701420 DT.95320779 DT.92459370 DT.95357332 DT.100797826 DT.100797829 DT.95090158

DT.91682841 DT.97811007 DT.121223228 DT.121223692 DT.121223583 DT.121223209 DT.100773091 DT.92459375

24/518 AceView cDNA sequences (see all 518):

BC060804 CA448457 AU137809 H02608 BG620679 AU140166 CR611528 AW069127

BX395958 CR616307 AI247515 BI056244 AA411621 AW137509 AU138290 AI371787

AU140312 R23753 BG013873 AU140094 AU138056 AU139173 AI095755 AU138153

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ADAM12 About this scheme

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:

ECgene alternative splicing isoforms for ADAM12

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ADAM12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAGCCCTTC

About this image

ADAM12 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/34 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 34)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Mononuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Mononuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Mononuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Mononuclear Myocytes

Skeletal Muscle

Thoracic Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Hypaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Primary Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Primary Hypaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Lumbar Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ADAM12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ADAM12

SOURCE GeneReport for Unigene cluster: Hs.594351

UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184

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

SABiosciences Custom PCR Arrays for ADAM12

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADAM12

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAM12

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ADAM12 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ADAM12¹	ADAM metallopeptidase domain 12	72.45(n) 72.82(a)		425843 NM_001142850.1 NP_001136322.1
lizard (Anolis carolinensis)	Reptilia	ADAM12⁶	--	71(a)	1 ↔ 1	3(63189426-63303737)
zebrafish (Danio rerio)	Actinopterygii	adam12¹	a disintegrin and metalloproteinase domain 12 (meltrin more	67.19(n) 67.72(a)		563275 XM_686639.5 XP_691731.5
fruit fly (Drosophila melanogaster)	Insecta	mmd³ Neu3¹	metalloendopeptidase³ CG7649-PC¹	35(a)³ 45.36(n)¹ 36.44(a)¹		3772109¹ NM_001032403.1¹ NP_001027575.1¹
worm (Caenorhabditis elegans)	Secernentea	adm-1³ adm-2¹	Disintegrin³ Protein ADM-2¹	31(a)³ 46.28(n)¹ 32.99(a)¹		III(12952834-12963248)³ 181489¹ NM_077890.2¹ NP_510291.1¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ADAM12 gene

ADAM7² ADAM19² ADAM23² ADAM33² ADAM11² ADAM30² ADAM22² ADAM28²

ADAM29² ADAM20² ADAM9² ADAM21² ADAM15² ADAM8²

17 SIMAP similar genes for ADAM12 using alignment to 2 protein entries: ADA12_HUMAN (see all proteins):

ADAM9 ADAM19 ADAMDEC1 ADAM7 ADAM33 ADAM21

ADAM23 ADAM28 ADAM11 ADAM15 ADAM20 ADAM22

ADAM8 ADAM2 ADAM18 ADAM29 ADAM30

ADAM12 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1913745^1,2	H	--	121391739(-)	`CTGGAG/AATCCT`	1	--	ds500¹ ese³		4		NS EA	416
rs60967672^1,2	C,	--	121391820(+)	`TCTCAC/TGAAGA`	1	--	ds500¹		2		WA	120
rs10901516^1,2	C,A,H	--	121391830(+)	`AAAGTC/TTGCAA`	1	--	ds500¹ ese³		4		NS EA	420
rs74454512^1,2		--	121391841(+)	`GAGGTC/TGAGGT`	1	--	ds500¹		0	--	--	--	--
rs41305018^1,2		--	121391857(+)	`AGAAAC/GATCTG`	1	--	ds500¹		0	--	--	--	--
rs11244768^1,2	H	--	121391896(+)	`CCTTTC/TTGCTG`	1	--	ds500¹ ese³		4		NS EA	412
rs78600521^1,2		--	121392575(+)	`TCTTTA/TAAAAA`	1	--	ut3¹		0	--	--	--	--
rs115107171^1,2	C,F,	--	121392900(+)	`CCATTG/AATGAC`	1	--	ut3¹		1		WA	118
rs116708682^1,2	C,F,	--	121393043(+)	`GAAGGG/ACTAAC`	1	--	ut3¹		1		WA	118
rs73372565^1,2	C,	--	121393432(+)	`CTTGGT/CACATA`	1	--	ut3¹		3		WA EA	240

HapMap Linkage Disequilibrium report for ADAM12 (127700950 - 127950950 bp, first 250kb of ADAM12)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for ADAM12
6 CNVs: 43226 30521 61072 101067 39064 3825
5 Indels: 101068 48452 39789 24362 44679
Human Gene Mutation Database (HGMD): ADAM12

1 SABiosciences Cancer Mutation PCR Assay for ADAM12:

Cosmic Id	AA Change
22798	p.L792F

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADAM12

DNA2.0 Custom Variant and Variant Library Synthesis for ADAM12

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ADAM12 for disorders           About GeneDecksing

OMIM gene information: 602714    OMIM disorders: --

20/36 diseases for ADAM12 (see all 36):    About MalaCards

skeletal muscle regeneration non-small cell lung carcinoma pre-eclampsia ectopic pregnancy

giant cell tumor wegener's granulomatosis edwards syndrome down syndrome

basal cell carcinoma dilated cardiomyopathy muscular dystrophy osteoarthritis

osteolysis eclampsia squamous cell carcinoma alzheimer's disease

laryngitis laryngeal carcinoma keloids gastric cancer

2 diseases from the University of Copenhagen DISEASES database for ADAM12:

pre-eclampsia Down syndrome

10/15 Novoseek disease relationships for ADAM12 gene (see all 15) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
down syndrome	50.4	20	19285649 (4), 14691998 (4), 20509157 (4), 18785180 (3) (see all 7)
preeclampsia	41.4	10	15994630 (5), 18978109 (4)
osteoarthritis knee	40.2	1	19268722 (1)
giant cell tumors	34.3	5	11769731 (4), 16251041 (1)
osteoarthritis	31.7	2	19601832 (1), 19268722 (1)
trisomy	24.7	11	17701664 (5), 19285649 (2)
tumors	21.4	32	15930294 (5), 17189408 (3), 11769731 (3), 16061220 (2) (see all 15)
rhabdomyosarcoma	18.4	2	15364951 (1), 15574885 (1)
chromosomal aberrations	7.78	6	17278174 (2), 19285649 (2), 17701664 (1)
cancer	7.6	13	18342566 (1), 19473694 (1), 19544357 (1), 19601832 (1) (see all 11)

Human Genome Epidemiology (HuGE) Navigator: ADAM12 (9 documents)

Export disorders for ADAM12 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ADAM12 gene, integrated from 9 sources (see all 168):
(articles sorted by number of sources associating them with ADAM12)

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A novel, secreted form of human ADAM 12 (meltrin alpha) provokes myogenesis in vivo. (PubMed id 9417060)^{1, 2, 3, 9} Gilpin B.J....Wewer U.M. (1998)
RACK1, a new ADAM12 interacting protein. Contribution to liver fibrogenesis. (PubMed id 18621736)^{1, 2, 9} Bourd-Boittin K....Theret N. (2008)
Cellular roles of ADAM12 in health and disease. (PubMed id 18342566)^{1, 3, 9} Kveiborg M....Wewer U.M. (2008)
Human ADAM 12 (meltrin alpha) is an active metalloprotease. (PubMed id 9642263)^{1, 2, 9} Loechel F.... Wewer U.M. (1998)
The adaptor protein fish associates with members of the ADAMs family and localizes to podosomes of Src-transformed cells. (PubMed id 12615925)^{1, 2, 9} Abram C.L....Courtneidge S.A. (2003)
FLRG, a new ADAM12-associated protein, modulates osteoclast differentiation. (PubMed id 15574124)^{1, 2} Bartholin L.... Rimokh R. (2005)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)
The cysteine-rich domain of human ADAM 12 supports cell adhesion through syndecans and triggers signaling events that lead to beta1 integrin-dependent cell spreading. (PubMed id 10831617)^{1, 2} Iba K.... Wewer U.M. (2000)
ADAM12: a potential target for the treatment of chronic wounds. (PubMed id 18604515)^{1, 9} Harsha A....Tomic-Canic M. (2008)
ADAM12 as a marker of trisomy 18 in the first and second trimester of pregnancy. (PubMed id 17701664)^{1, 9} Spencer K. and Cowans N.J. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8038	HGNC: 190	AceView: ADAM12	Ensembl:ENSG00000148848	euGenes: HUgn8038
ECgene: ADAM12	H-InvDB: ADAM12

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ADAM12	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ADAM12	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for ADAM12 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ADAM12 gene:
Search GeneIP for patents involving ADAM12

GeneCards and IP:
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ADAM metallopeptidase domain 12

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ADAM12 Gene

ADAM metallopeptidase domain 12

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