ADAM22
entrez
53616
canonical
uniprot
Q9P0K1
canonical
ensembl
ENSG00000008277
resolver
ensp
ENSP00000265727
resolver
ensp
ENSP00000381260
resolver
ensp
ENSP00000381262
resolver
ensp
ENSP00000381267
resolver
ensp
ENSP00000412085
resolver
ensp
ENSP00000508320
resolver
ensp
ENSP00000568460
resolver
ensp
ENSP00000568462
resolver
ensp
ENSP00000568463
resolver
ensp
ENSP00000568464
resolver
ensp
ENSP00000585218
resolver
ensp
ENSP00000585219
resolver
ensp
ENSP00000636550
resolver
enst
ENST00000413139
resolver
genesymbol
ADAM22
resolver
genesymbol_syn
MDC2
resolver
hgnc
HGNC:201
resolver
uniprot
H7C3I4
resolver
uniprot
O75075
resolver
uniprot
O75076
resolver
uniprot
Q08AL8
resolver
uniprot
Q9P0K2
resolver
uniprot
Q9UIA1
resolver
uniprot
Q9UKK2
resolver
uniprot_entry
ADA22_HUMAN
resolver
uniprot_entry
H7C3I4_HUMAN
resolver
uniprot_entry
Q08AL8_HUMAN
resolver
uniprot_sec
O75075
resolver
uniprot_sec
O75076
resolver
uniprot_sec
Q9P0K2
resolver
uniprot_sec
Q9UIA1
resolver
uniprot_sec
Q9UKK2
resolver
amino_acid_sequence
MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQASFQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQEDFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVVNMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEFGKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNGFIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQGICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQGRTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDDAKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRQLPQGDYVKKPGDGDSFYSDIPPGVSTNSASSSKKRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLGGNKKKIRGKRFRPRSNSTETLSPAKSPSSSTGSIASSRKYPYPMPPLPDEDKKVNRQSARLWETSI
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 61 (DEE61) [MIM:617933]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE61 is an autosomal recessive condition characterized by onset of seizures in infancy. {ECO:0000269|PubMed:27066583}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:12589811, ECO:0000269|PubMed:15882968, ECO:0000269|PubMed:16385342, ECO:0000269|PubMed:19692335}.
uniprot
proteins
mass_dalton
100433
uniprot
proteins
mutagenesis
MUTAGEN 834; /note="S->A: Abolishes interactions with YWHAB and YWHAZ; when associated with A-857."; /evidence="ECO:0000269|PubMed:12589811, ECO:0000269|PubMed:15882968"; MUTAGEN 857; /note="S->A: Abolishes interactions with YWHAB and YWHAZ; when associated with A-834."; /evidence="ECO:0000269|PubMed:12589811, ECO:0000269|PubMed:15882968
uniprot
proteins
post_translational_modification
PTM: The precursor is cleaved by a furin endopeptidase. {ECO:0000250}.
uniprot
proteins
pubmed
10524237
uniprot
proteins
pubmed
11050470
uniprot
proteins
pubmed
12589811
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15882968
uniprot
proteins
pubmed
16385342
uniprot
proteins
pubmed
19692335
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
27066583
uniprot
proteins
pubmed
9693107
uniprot
proteins
sequence_length
906
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27066583}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:Q9R1V6}.
uniprot
proteins
transmembrane_region
TRANSMEM 737..757; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins