Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 53616
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ADAM22   Gene   UCSC   Ensembl
Aliases ADAM 22, MDC2
Gene name ADAM metallopeptidase domain 22
Alternate names disintegrin and metalloproteinase domain-containing protein 22, a disintegrin and metalloproteinase domain 22, metalloproteinase-disintegrin ADAM22-3, metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2,
Gene location 7q21.12 (87934142: 88202888)     Exons: 36     NC_000007.14
Gene summary(Entrez) This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) 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. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]
OMIM 603709

Protein Summary

Protein general information Q9P0K1  

Name: Disintegrin and metalloproteinase domain containing protein 22 (ADAM 22) (Metalloproteinase disintegrin ADAM22 3) (Metalloproteinase like, disintegrin like, and cysteine rich protein 2)

Length: 906  Mass: 100,433

Tissue specificity: Highly expressed in the brain and in some high-grade but not low-grade gliomas. Detected slightly or not at all in other tissues. {ECO

Sequence MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVR
GDLGGPQLTHVDQASFQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVA
LSTCHGLHGMFYDGNHTYLIEPEENDTTQEDFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKR
QLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVVNMADLIYKDQLKTRIVLVAMETWATDNKFA
ISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEFGKTDLMAVTLAQSLA
HNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG
FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAP
NIHKMDGYSCDGVQGICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLC
GYLLCTNIGNIPRLGELDGEITSTLVVQQGRTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFN
FSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDDAKTGITLSGNGVAGTNIIIGIIAGTILVLA
LILGITAWGYKNYREQRQLPQGDYVKKPGDGDSFYSDIPPGVSTNSASSSKKRSNGLSHSWSERIPDTKHISDIC
ENGRPRSNSWQGNLGGNKKKIRGKRFRPRSNSTETLSPAKSPSSSTGSIASSRKYPYPMPPLPDEDKKVNRQSAR
LWETSI
Structural information
Protein Domains
Peptidase (239-438)
Disintegrin. (444-531)
EGF-like. (675-712)
Interpro:  IPR006586 IPR018358 IPR001762 IPR013032 IPR013111 IPR024079 IPR001590 IPR002870 IPR034027
Prosite:   PS50215 PS00427 PS50214 PS00022

Pfam:  
PF08516 PF00200 PF07974 PF01562 PF01421
CDD:   cd04269

PDB:  
3G5C
PDBsum:   3G5C
MINT:   252818
STRING:   ENSP00000265727;
Other Databases GeneCards:  ADAM22;  Malacards:  ADAM22

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004222 metalloendopeptidase acti
vity
IEA molecular_function
GO:0005178 integrin binding
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006508 proteolysis
IEA biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007162 negative regulation of ce
ll adhesion
NAS biological_process
GO:0007417 central nervous system de
velopment
TAS biological_process
GO:0008270 zinc ion binding
IEA molecular_function
GO:0008344 adult locomotory behavior
IEA biological_process
GO:0016021 integral component of mem
brane
ISS cellular_component
GO:0016021 integral component of mem
brane
NAS cellular_component
GO:0022011 myelination in peripheral
nervous system
IEA biological_process
GO:0030424 axon
ISS cellular_component
GO:0004222 metalloendopeptidase acti
vity
IEA molecular_function
GO:0005178 integrin binding
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006508 proteolysis
IEA biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007162 negative regulation of ce
ll adhesion
NAS biological_process
GO:0007417 central nervous system de
velopment
TAS biological_process
GO:0008237 metallopeptidase activity
IEA molecular_function
GO:0008270 zinc ion binding
IEA molecular_function
GO:0008344 adult locomotory behavior
IEA biological_process
GO:0014037 Schwann cell differentiat
ion
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
ISS cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
NAS cellular_component
GO:0022011 myelination in peripheral
nervous system
IEA biological_process
GO:0030424 axon
IEA cellular_component
GO:0030424 axon
ISS cellular_component
GO:0030424 axon
IEA cellular_component
GO:0042063 gliogenesis
IEA biological_process
GO:0042995 cell projection
IEA cellular_component
GO:0005178 integrin binding
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0007162 negative regulation of ce
ll adhesion
NAS biological_process
GO:0007417 central nervous system de
velopment
TAS biological_process
GO:0016021 integral component of mem
brane
ISS cellular_component
GO:0016021 integral component of mem
brane
NAS cellular_component
GO:0030424 axon
ISS cellular_component

Diseases

Associated diseases References
Endometriosis (ovarian) PMID: 25298284
Ovarian endometriosis PMID: 25298284
Ovarian endometriosis PMID: 25298284
Schizophrenia PMID: 19054571
Ovarian endometriosis INFBASE25298284

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25298284 Endometrio
sis (ovari
an)

50 (30 EMS-asso
ciated ovarian
carcinoma (18 O
varian endometr
ioid cancer, 12
ovarian clear
cell cancer), 2
0 normal endome
trial specimens
)
RASSF2
RUNX3
GSTZ1
CYP2A
GBGT1
NDUFS1
SPOCK2
ADAM22
and TRIM36
Show abstract