POPD2_HUMAN
ID POPD2_HUMAN Reviewed; 364 AA.
AC Q9HBU9; Q86UE7;
DT 31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2003, sequence version 2.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Popeye domain-containing protein 2;
DE Short=Popeye protein 2;
GN Name=POPDC2; Synonyms=POP2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), POSSIBLE FUNCTION, AND TISSUE
RP SPECIFICITY.
RX PubMed=10882522; DOI=10.1006/dbio.2000.9751;
RA Andree B., Hillemann T., Kessler-Icekson G., Schmitt-John T., Jockusch H.,
RA Arnold H.-H., Brand T.;
RT "Isolation and characterization of the novel popeye gene family expressed
RT in skeletal muscle and heart.";
RL Dev. Biol. 223:371-382(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Colon, Kidney, Stomach, and Urinary bladder;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=26642364; DOI=10.1172/jci79562;
RA Schindler R.F., Scotton C., Zhang J., Passarelli C., Ortiz-Bonnin B.,
RA Simrick S., Schwerte T., Poon K.L., Fang M., Rinne S., Froese A.,
RA Nikolaev V.O., Grunert C., Mueller T., Tasca G., Sarathchandra P.,
RA Drago F., Dallapiccola B., Rapezzi C., Arbustini E., Di Raimo F.R.,
RA Neri M., Selvatici R., Gualandi F., Fattori F., Pietrangelo A., Li W.,
RA Jiang H., Xu X., Bertini E., Decher N., Wang J., Brand T., Ferlini A.;
RT "POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein
RT trafficking.";
RL J. Clin. Invest. 126:239-253(2016).
CC -!- FUNCTION: Important for the maintenance of cardiac function. Plays a
CC regulatory function in heart rate dynamics mediated, at least in part,
CC through cAMP-binding and, probably, by increasing cell surface
CC expression of the potassium channel KCNK2 and enhancing current
CC density. {ECO:0000250|UniProtKB:Q6JWV8, ECO:0000250|UniProtKB:Q9ES82}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:26642364}; Multi-
CC pass membrane protein {ECO:0000305}. Cell membrane, sarcolemma
CC {ECO:0000269|PubMed:26642364}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9HBU9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9HBU9-2; Sequence=VSP_008743;
CC -!- TISSUE SPECIFICITY: Expressed predominantly in the heart and in the
CC skeletal muscle. {ECO:0000269|PubMed:10882522,
CC ECO:0000269|PubMed:26642364}.
CC -!- SIMILARITY: Belongs to the popeye family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH26911.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF204173; AAG23406.1; -; mRNA.
DR EMBL; BC026911; AAH26911.1; ALT_INIT; mRNA.
DR EMBL; BC044929; AAH44929.1; -; mRNA.
DR CCDS; CCDS2992.1; -. [Q9HBU9-1]
DR CCDS; CCDS77797.1; -. [Q9HBU9-2]
DR RefSeq; NP_001295262.1; NM_001308333.1. [Q9HBU9-2]
DR RefSeq; NP_071418.2; NM_022135.3. [Q9HBU9-1]
DR AlphaFoldDB; Q9HBU9; -.
DR SMR; Q9HBU9; -.
DR BioGRID; 122053; 34.
DR IntAct; Q9HBU9; 3.
DR MINT; Q9HBU9; -.
DR STRING; 9606.ENSP00000264231; -.
DR GlyGen; Q9HBU9; 2 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q9HBU9; -.
DR PhosphoSitePlus; Q9HBU9; -.
DR BioMuta; POPDC2; -.
DR DMDM; 38258244; -.
DR MassIVE; Q9HBU9; -.
DR PaxDb; Q9HBU9; -.
DR PeptideAtlas; Q9HBU9; -.
DR PRIDE; Q9HBU9; -.
DR ProteomicsDB; 81596; -. [Q9HBU9-1]
DR ProteomicsDB; 81597; -. [Q9HBU9-2]
DR Antibodypedia; 16586; 60 antibodies from 15 providers.
DR DNASU; 64091; -.
DR Ensembl; ENST00000264231.7; ENSP00000264231.3; ENSG00000121577.14. [Q9HBU9-1]
DR Ensembl; ENST00000468801.1; ENSP00000420715.1; ENSG00000121577.14. [Q9HBU9-2]
DR GeneID; 64091; -.
DR KEGG; hsa:64091; -.
DR UCSC; uc003ecx.2; human. [Q9HBU9-1]
DR CTD; 64091; -.
DR DisGeNET; 64091; -.
DR GeneCards; POPDC2; -.
DR HGNC; HGNC:17648; POPDC2.
DR HPA; ENSG00000121577; Tissue enhanced (heart muscle, tongue).
DR MIM; 605823; gene.
DR neXtProt; NX_Q9HBU9; -.
DR OpenTargets; ENSG00000121577; -.
DR PharmGKB; PA134982197; -.
DR VEuPathDB; HostDB:ENSG00000121577; -.
DR eggNOG; ENOG502R0XG; Eukaryota.
DR GeneTree; ENSGT00390000002563; -.
DR HOGENOM; CLU_048494_2_0_1; -.
DR InParanoid; Q9HBU9; -.
DR OrthoDB; 1369469at2759; -.
DR PhylomeDB; Q9HBU9; -.
DR TreeFam; TF326644; -.
DR PathwayCommons; Q9HBU9; -.
DR SignaLink; Q9HBU9; -.
DR BioGRID-ORCS; 64091; 4 hits in 1067 CRISPR screens.
DR ChiTaRS; POPDC2; human.
DR GeneWiki; POPDC2; -.
DR GenomeRNAi; 64091; -.
DR Pharos; Q9HBU9; Tbio.
DR PRO; PR:Q9HBU9; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9HBU9; protein.
DR Bgee; ENSG00000121577; Expressed in apex of heart and 116 other tissues.
DR ExpressionAtlas; Q9HBU9; baseline and differential.
DR Genevisible; Q9HBU9; HS.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0042383; C:sarcolemma; IDA:UniProtKB.
DR GO; GO:0030552; F:cAMP binding; IBA:GO_Central.
DR GO; GO:0007507; P:heart development; IBA:GO_Central.
DR GO; GO:0002027; P:regulation of heart rate; ISS:UniProtKB.
DR GO; GO:0042391; P:regulation of membrane potential; IBA:GO_Central.
DR GO; GO:0007519; P:skeletal muscle tissue development; IBA:GO_Central.
DR GO; GO:0051146; P:striated muscle cell differentiation; IBA:GO_Central.
DR InterPro; IPR018490; cNMP-bd-like.
DR InterPro; IPR006916; Popeye_prot.
DR PANTHER; PTHR12101; PTHR12101; 1.
DR Pfam; PF04831; Popeye; 1.
DR SUPFAM; SSF51206; SSF51206; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Glycoprotein; Membrane;
KW Phosphoprotein; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..364
FT /note="Popeye domain-containing protein 2"
FT /id="PRO_0000046793"
FT TRANSMEM 37..57
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 77..97
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 276..333
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 296..312
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 361
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q9ES82"
FT CARBOHYD 4
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 337..364
FT /note="ASRIPLQSYSQVISRGQAPLAPTHTPEL -> EIDDFPSYFHQFGFSGKVAA
FT GRIP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_008743"
FT VARIANT 29
FT /note="V -> I (in dbSNP:rs4688023)"
FT /id="VAR_053601"
FT CONFLICT 311
FT /note="S -> F (in Ref. 1; AAG23406)"
FT /evidence="ECO:0000305"
FT CONFLICT 315..328
FT /note="ATTNFPAPPTRARL -> RFPPTFPALSYRGQVC (in Ref. 1;
FT AAG23406)"
FT /evidence="ECO:0000305"
FT CONFLICT 331..333
FT /note="PDS -> ASN (in Ref. 1; AAG23406)"
FT /evidence="ECO:0000305"
FT CONFLICT 339
FT /note="R -> K (in Ref. 1; AAG23406)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 364 AA; 40448 MW; F29AA48CD611BE51 CRC64;
MSANSSRVGQ LLLQGSACIR WKQDVEGAVY HLANCLLLLG FMGGSGVYGC FYLFGFLSAG
YLCCVLWGWF SACGLDIVLW SFLLAVVCLL QLAHLVYRLR EDTLPEEFDL LYKTLCLPLQ
VPLQTYKEIV HCCEEQVLTL ATEQTYAVEG ETPINRLSLL LSGRVRVSQD GQFLHYIFPY
QFMDSPEWES LQPSEEGVFQ VTLTAETSCS YISWPRKSLH LLLTKERYIS CLFSALLGYD
ISEKLYTLND KLFAKFGLRF DIRLPSLYHV LGPTAADAGP ESEKGDEEVC EPAVSPPQAT
PTSLQQTPPC STPPATTNFP APPTRARLSR PDSGILASRI PLQSYSQVIS RGQAPLAPTH
TPEL
