POPDC2
entrez
64091
canonical
uniprot
Q9HBU9
canonical
ensembl
ENSG00000121577
resolver
ensp
ENSP00000264231
resolver
ensp
ENSP00000340753
resolver
ensp
ENSP00000417250
resolver
ensp
ENSP00000420715
resolver
ensp
ENSP00000536226
resolver
ensp
ENSP00000619725
resolver
enst
ENST00000341124
resolver
enst
ENST00000493094
resolver
enst
ENST00000866167
resolver
enst
ENST00000949666
resolver
genesymbol
POPDC2
resolver
genesymbol_syn
POP2
resolver
hgnc
HGNC:17648
resolver
uniprot
C9J3P7
resolver
uniprot
Q86UE7
resolver
uniprot_entry
C9J3P7_HUMAN
resolver
uniprot_entry
POPD2_HUMAN
resolver
uniprot_sec
Q86UE7
resolver
amino_acid_sequence
MSANSSRVGQLLLQGSACIRWKQDVEGAVYHLANCLLLLGFMGGSGVYGCFYLFGFLSAGYLCCVLWGWFSACGLDIVLWSFLLAVVCLLQLAHLVYRLREDTLPEEFDLLYKTLCLPLQVPLQTYKEIVHCCEEQVLTLATEQTYAVEGETPINRLSLLLSGRVRVSQDGQFLHYIFPYQFMDSPEWESLQPSEEGVFQVTLTAETSCSYISWPRKSLHLLLTKERYISCLFSALLGYDISEKLYTLNDKLFAKFGLRFDIRLPSLYHVLGPTAADAGPESEKGDEEVCEPAVSPPQATPTSLQQTPPCSTPPATTNFPAPPTRARLSRPDSGILASRIPLQSYSQVISRGQAPLAPTHTPEL
uniprot
proteins
disease_involvement
DISEASE: Cardiac conduction disease with or without cardiomyopathy 2 (CCCM2) [MIM:621367]: An autosomal recessive cardiac disorder characterized by sinus node dysfunction, atrioventricular conduction defects, ventricular tachycardia, atrial arrhythmia, and hypertrophic cardiomyopathy. {ECO:0000269|PubMed:40409267}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Important for the maintenance of cardiac function (PubMed:40409267). Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:40409267). {ECO:0000250|UniProtKB:Q6JWV8, ECO:0000250|UniProtKB:Q9ES82, ECO:0000269|PubMed:40409267}.
uniprot
proteins
mass_dalton
40448
uniprot
proteins
protein_family
Popeye family
uniprot
proteins
pubmed
10882522
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
26642364
uniprot
proteins
pubmed
40409267
uniprot
proteins
sequence_length
364
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:26642364}; Multi-pass membrane protein {ECO:0000305}. Cell membrane, sarcolemma {ECO:0000269|PubMed:26642364, ECO:0000269|PubMed:40409267}.
uniprot
proteins
transmembrane_region
TRANSMEM 37..57; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 77..97; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins