CACNA2D1
entrez
781
canonical
uniprot
P54289
canonical
ensembl
ENSG00000153956
resolver
ensp
ENSP00000349320
resolver
ensp
ENSP00000405395
resolver
ensp
ENSP00000409374
resolver
ensp
ENSP00000516189
resolver
ensp
ENSP00000516190
resolver
ensp
ENSP00000525830
resolver
ensp
ENSP00000627073
resolver
enst
ENST00000423588
resolver
genesymbol
CACNA2D1
resolver
genesymbol_syn
CACNL2A
resolver
genesymbol_syn
CCHL2A
resolver
genesymbol_syn
MHS3
resolver
hgnc
HGNC:1399
resolver
uniprot
E7ERK3
resolver
uniprot
Q17R45
resolver
uniprot
Q9UD80
resolver
uniprot
Q9UD81
resolver
uniprot
Q9UD82
resolver
uniprot
Q9UIU0
resolver
uniprot_entry
CA2D1_HUMAN
resolver
uniprot_entry
E7ERK3_HUMAN
resolver
uniprot_entry
Q9UIU0_HUMAN
resolver
uniprot_sec
Q17R45
resolver
uniprot_sec
Q9UD80
resolver
uniprot_sec
Q9UD81
resolver
uniprot_sec
Q9UD82
resolver
amino_acid_sequence
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDIYEKYQDLYTVEPNNARQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASNEVVYYNAKDDLDPEKNDSEPGSQRIKPVFIEDANFGRQISYQHAAVHIPTDIYEGSTIVLNELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQDVSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLFTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTINLRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTFIAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPSLWYIIGIQFLLLWLVSGSTHRLL
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 110 (DEE110) [MIM:620149]: A form of epileptic encephalopathy, a heterogeneous group of 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. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. {ECO:0000269|PubMed:35293990}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By similarity). {ECO:0000250, ECO:0000269|PubMed:35293990}.
uniprot
proteins
mass_dalton
124568
uniprot
proteins
post_translational_modification
PTM: Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked. {ECO:0000250}.
uniprot
proteins
protein_family
Calcium channel subunit alpha-2/delta family
uniprot
proteins
pubmed
1309651
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
22054663
uniprot
proteins
pubmed
34234349
uniprot
proteins
pubmed
35293990
uniprot
proteins
pubmed
37972591
uniprot
proteins
pubmed
8107964
uniprot
proteins
sequence_length
1103
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:35293990}.
uniprot
proteins
transmembrane_region
TRANSMEM 1074..1094; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins