Gene Gene information from NCBI Gene database.
Entrez ID 53616
Gene name ADAM metallopeptidase domain 22
Gene symbol ADAM22
Synonyms (NCBI Gene)
ADAM 22DEE61EIEE61MDC2
Chromosome 7
Chromosome location 7q21.12
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs747259064 G>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
158
miRTarBase ID miRNA Experiments Reference
MIRT716863 hsa-miR-6782-3p HITS-CLIP 19536157
MIRT721421 hsa-miR-4712-5p HITS-CLIP 19536157
MIRT721420 hsa-miR-770-5p HITS-CLIP 19536157
MIRT716862 hsa-miR-4716-5p HITS-CLIP 19536157
MIRT716861 hsa-miR-5701 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0005178 Function Integrin binding NAS 9693107
GO:0005515 Function Protein binding IPI 12589811, 16868027, 20463223, 24550280, 27066583, 30126976
GO:0005886 Component Plasma membrane IDA 27066583
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603709 201 ENSG00000008277
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P0K1
Protein name Disintegrin and metalloproteinase domain-containing protein 22 (ADAM 22) (Metalloproteinase-disintegrin ADAM22-3) (Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2)
Protein function Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein (PubMed:19692335). Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1. {ECO:00
PDB 3G5C , 5Y2Z , 5Y31 , 7CQF , 8HPY , 8HQ1 , 8HQ2 , 8Y6B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 41 188 Reprolysin family propeptide Family
PF01421 Reprolysin 239 438 Reprolysin (M12B) family zinc metalloprotease Domain
PF00200 Disintegrin 453 526 Disintegrin Domain
PF08516 ADAM_CR 531 649 ADAM cysteine-rich Family
PF07974 EGF_2 679 711 EGF-like domain Domain
Tissue specificity 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:0000269|PubMed:16385342}.
Sequence
MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSG
GEDESRHDALDTRVRGDLGGPQLTHVDQASFQVDAFGTSFILDVVLNHDLLSSEYIERHI
EHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE
DFHFHSVY
KSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKY
IELMIVNDHLMFKKHRLSVVHTNTYAKSVVNMADLIYKDQLKTRIVLVAMETWATDNKFA
ISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF
GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIE
EYHDFLNSGGGACLFNKP
SKLLDPPECGNGFIETGEECDCGTPAECVLEGAECCKKCTLT
QDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPN
IHKMDGYSCDGVQG
ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLC
GYLLCTNIGNIPRLGELDGEITSTLVVQQGRTLNCSGGHVKLEEDVDLG
YVEDGTPCGPQ
MMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD
AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRQLPQGDYVKKPGD
GDSFYSDIPPGVSTNSASSSKKRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLG
GNKKKIRGKRFRPRSNSTETLSPAKSPSSSTGSIASSRKYPYPMPPLPDEDKKVNRQSAR
LWETSI
Sequence length 906
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    LGI-ADAM interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
47
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADAM22-related disorder Likely pathogenic rs760686398 RCV003902110
Developmental and epileptic encephalopathy, 61 Pathogenic; Likely pathogenic rs2536800069, rs1303434565, rs747259064, rs1554519462, rs1842129329, rs1262642807 RCV003224820
RCV003990875
RCV000617427
RCV000619250
RCV004799564
RCV001293020
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs76076875 RCV005907510
See cases Benign; Likely benign rs201142062 RCV002252270
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 35373813
Breast Neoplasms Associate 30278449
Callosities Associate 35373813
Drug Resistant Epilepsy Associate 35373813
Epileptic Encephalopathy Early Infantile 4 Associate 35373813
Glioblastoma Associate 38019838
Glioma Associate 11050470
Immunologic Deficiency Syndromes Associate 35373813
Inflammation Associate 29272336
Insulin Resistance Associate 26672043