CACNA2D2
entrez
9254
canonical
uniprot
Q9NY47
canonical
ensembl
ENSG00000007402
resolver
ensp
ENSP00000266039
resolver
ensp
ENSP00000354228
resolver
ensp
ENSP00000390329
resolver
ensp
ENSP00000404631
resolver
ensp
ENSP00000407393
resolver
ensp
ENSP00000418081
resolver
enst
ENST00000429770
resolver
genesymbol
CACNA2D2
resolver
genesymbol_syn
KIAA0558
resolver
hgnc
HGNC:1400
resolver
uniprot
A7MD15
resolver
uniprot
C9JE82
resolver
uniprot
Q9NY48
resolver
uniprot
Q9UEW0
resolver
uniprot
Q9Y268
resolver
uniprot_entry
C9JE82_HUMAN
resolver
uniprot_entry
CA2D2_HUMAN
resolver
uniprot_sec
A7MD15
resolver
uniprot_sec
Q9NY48
resolver
uniprot_sec
Q9UEW0
resolver
uniprot_sec
Q9Y268
resolver
amino_acid_sequence
MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGASAYSFPQQHTMQHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLFEVQENEPQKLVEKVAGDIESLLDRKVQALKRLADAAENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVERGSKASTLRLDFIEDPNFKNKVNYSYAAVQIPTDIYKGSTVILNELNWTEALENVFMENRRQDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSGSVSGLTLKLMKTSVCEMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAVQGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRTVRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEAKQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVMGIDVALNDIKRLTPNYTLGANGYVFAIDLNGYVLLHPNLKPQTTNFREPVTLDFLDAELEDENKEEIRRSMIDGNKGHKQIRTLVKSLDERYIDEVTRNYTWVPIRSTNYSLGLVLPPYSTFYLQANLSDQILQVKLPISKLKDFEFLLPSSFESEGHVFIAPREYCKDLNASDNNTEFLKNFIELMEKVTPDSKQCNNFLLHNLILDTGITQQLVERVWRDQDLNTYSLLAVFAATDGGITRVFPNKAAEDWTENPEPFNASFYRRSLDNHGYVFKPPHQDALLRPLELENDTVGILVSTAVELSLGRRTLRPAVVGVKLDLEAWAEKFKVLASNRTHQDQPQKCGPNSHCEMDCEVNNEDLLCVLIDDGGFLVLSNQNHQWDQVGRFFSEVDANLMLALYNNSFYTRKESYDYQAACAPQPPGNLGAAPRGVFVPTVADFLNLAWWTSAAAWSLFQQLLYGLIYHSWFQADPAEAEGSPETRESSCVMKQTQYYFGSVNASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEAGRLLQKETHSDGPEQCELVQRPRYRRGPHICFDYNATEDTSDCGRGASFPPSLGVLVSLQLLLLLGLPPRPQPQVLVHASRRL
uniprot
proteins
disease_involvement
DISEASE: Cerebellar atrophy with seizures and variable developmental delay (CASVDD) [MIM:618501]: An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported. {ECO:0000269|PubMed:23339110, ECO:0000269|PubMed:24358150, ECO:0000269|PubMed:29997391, ECO:0000269|PubMed:30410802}. 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. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G) (PubMed:15111129, PubMed:23339110). Overexpression induces apoptosis. {ECO:0000269|PubMed:12555074, ECO:0000269|PubMed:15111129, ECO:0000269|PubMed:23339110}.
uniprot
proteins
mass_dalton
129817
uniprot
proteins
post_translational_modification
PTM: May be proteolytically processed into subunits alpha-2-2 and delta-2 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
Calcium channel subunit alpha-2/delta family
uniprot
proteins
pubmed
10762351
uniprot
proteins
pubmed
10766861
uniprot
proteins
pubmed
11687876
uniprot
proteins
pubmed
12555074
uniprot
proteins
pubmed
15000524
uniprot
proteins
pubmed
15111129
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
23339110
uniprot
proteins
pubmed
24358150
uniprot
proteins
pubmed
29997391
uniprot
proteins
pubmed
30410802
uniprot
proteins
pubmed
33798445
uniprot
proteins
pubmed
9628581
uniprot
proteins
pubmed
9880589
uniprot
proteins
sequence_length
1150
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Colocalizes with CACNA1A in lipid raft fractions. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 1114..1134; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins