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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]
ADAM12 (ADAM Metallopeptidase Domain 12) is a Protein Coding gene. Diseases associated with ADAM12 include Lung Cancer and Ectopic Pregnancy. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and metallopeptidase activity. An important paralog of this gene is ADAM19.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004222 | metalloendopeptidase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25825872 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | IEA,TAS | 9417060 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | MAPK Erk Pathway |
.32
|
|
2 | Development Dopamine D2 receptor transactivation of EGFR |
Development Alpha-2 adrenergic receptor activation of ERK
.66
|
Development Dopamine D2 receptor transactivation of EGFR
.66
|
3 | Autophagy Pathway | ||
4 | Notch Signaling Pathway (sino) | ||
5 | Matrix Metalloproteinases |
Inhibition of Matrix Metalloproteinases
.69
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007520 | myoblast fusion | TAS | 7566181 |
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0045766 | positive regulation of angiogenesis | IMP | 28637396 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADAM12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ADAM12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ADAM12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Adam12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Adam12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ADAM12 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ADAM12 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ADAM12 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adam12 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | adam12 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP013468 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | mmd 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | adm-2 30 |
|
||
adm-1 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709836 | Benign: not provided | 126,046,075(-) | T/C | MISSENSE_VARIANT | |
714492 | Benign: not provided | 126,038,280(-) | T/C | SYNONYMOUS_VARIANT | |
716775 | Benign: not provided | 126,135,643(-) | A/G | SYNONYMOUS_VARIANT | |
725176 | Likely Benign: not provided | 126,064,870(-) | G/A | SYNONYMOUS_VARIANT | |
780917 | Benign: not provided | 126,118,141(-) | T/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
lung cancer |
|
|
ectopic pregnancy |
|
|
benign giant cell tumor |
|
|
pre-eclampsia |
|
|
down syndrome |
|