PACS2
entrez
23241
canonical
uniprot
Q86VP3
canonical
ensembl
ENSG00000179364
resolver
ensp
ENSP00000321834
resolver
ensp
ENSP00000393524
resolver
ensp
ENSP00000393559
resolver
ensp
ENSP00000528683
resolver
ensp
ENSP00000528684
resolver
ensp
ENSP00000528687
resolver
ensp
ENSP00000528689
resolver
ensp
ENSP00000528691
resolver
ensp
ENSP00000637398
resolver
ensp
ENSP00000637399
resolver
ensp
ENSP00000649241
resolver
genesymbol
PACS2
resolver
genesymbol_syn
KIAA0602
resolver
genesymbol_syn
PACS1L
resolver
hgnc
HGNC:23794
resolver
uniprot
A2VDJ9
resolver
uniprot
G8JLK3
resolver
uniprot
O60342
resolver
uniprot
Q6P191
resolver
uniprot
Q96FL7
resolver
uniprot_entry
PACS2_HUMAN
resolver
uniprot_sec
A2VDJ9
resolver
uniprot_sec
G8JLK3
resolver
uniprot_sec
O60342
resolver
uniprot_sec
Q6P191
resolver
uniprot_sec
Q96FL7
resolver
amino_acid_sequence
MAERGRLGLPGAPGALNTPVPMNLFATWEVDGSSPSCVPRLCSLTLKKLVVFKELEKELISVVIAVKMQGSKRILRSHEIVLPPSGQVETDLALTFSLQYPHFLKREGNKLQIMLQRRKRYKNRTILGYKTLAAGSISMAEVMQHPSEGGQVLSLCSSIKEAPVKAAEIWIASLSSQPIDHEDSTMQAGPKAKSTDNYSEEEYESFSSEQEASDDAVQGQDLDEDDFDVGKPKKQRRSIVRTTSMTRQQNFKQKVVALLRRFKVSDEVLDSEQDPAEHIPEAEEDLDLLYDTLDMEHPSDSGPDMEDDDSVLSTPKPKLRPYFEGLSHSSSQTEIGSIHSARSHKEPPSPADVPEKTRSLGGRQPSDSVSDTVALGVPGPREHPGQPEDSPEAEASTLDVFTERLPPSGRITKTESLVIPSTRSEGKQAGRRGRSTSLKERQAARPQNERANSLDNERCPDARSQLQIPRKTVYDQLNHILISDDQLPENIILVNTSDWQGQFLSDVLQRHTLPVVCTCSPADVQAAFSTIVSRIQRYCNCNSQPPTPVKIAVAGAQHYLSAILRLFVEQLSHKTPDWLGYMRFLVIPLGSHPVARYLGSVDYRYNNFFQDLAWRDLFNKLEAQSAVQDTPDIVSRITQYIAGANCAHQLPIAEAMLTYKQKSPDEESSQKFIPFVGVVKVGIVEPSSATSGDSDDAAPSGSGTLSSTPPSASPAAKEASPTPPSSPSVSGGLSSPSQGVGAELMGLQVDYWTAAQPADRKRDAEKKDLPVTKNTLKCTFRSLQVSRLPSSGEAAATPTMSMTVVTKEKNKKVMFLPKKAKDKDVESKSQCIEGISRLICTARQQQNMLRVLIDGVECSDVKFFQLAAQWSSHVKHFPICIFGHSKATF
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 66 (DEE66) [MIM:618067]: 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. DEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life. {ECO:0000269|PubMed:29656858}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptotic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments. {ECO:0000269|PubMed:15692563, ECO:0000269|PubMed:15692567}.
uniprot
proteins
mass_dalton
97702
uniprot
proteins
protein_family
PACS family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15692563
uniprot
proteins
pubmed
15692567
uniprot
proteins
pubmed
18296443
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29656858
uniprot
proteins
pubmed
34642815
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
889
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:15692567}. Mitochondrion {ECO:0000269|PubMed:15692567}.
uniprot
proteins