CCER2_HUMAN
ID CCER2_HUMAN Reviewed; 266 AA.
AC I3L3R5;
DT 19-FEB-2014, integrated into UniProtKB/Swiss-Prot.
DT 11-JUL-2012, sequence version 1.
DT 03-AUG-2022, entry version 55.
DE RecName: Full=Coiled-coil domain-containing glutamate-rich protein 2;
DE Flags: Precursor;
GN Name=CCER2;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP TISSUE SPECIFICITY, AND VARIANTS ASP-33; PRO-39; ASP-64; 76-THR--GLY-80
RP DELINS PRO-SER; VAL-80; LYS-160; CYS-195; 218-HIS--HIS-220 DEL; HIS-220
RP DEL; THR-224; GLU-229 DEL; ALA-232; LYS-242 AND GLY-249.
RX PubMed=27717682; DOI=10.1016/j.jstrokecerebrovasdis.2016.09.003;
RA Mukawa M., Nariai T., Onda H., Yoneyama T., Aihara Y., Hirota K., Kudo T.,
RA Sumita K., Maehara T., Kawamata T., Kasuya H., Akagawa H.;
RT "Exome sequencing identified CCER2 as a novel candidate gene for Moyamoya
RT disease.";
RL J. Stroke Cerebrovasc. Dis. 26:150-161(2017).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed at higher levels in fetal brain and
CC skeletal muscle. Lower expression is detected in fetal kidney, liver,
CC spleen, thymus, heart and lung. {ECO:0000269|PubMed:27717682}.
CC -!- CAUTION: Despite its name, does not contain a real coiled coil domain
CC region: predicted coiled coil regions are the result of the Glu-rich
CC region. {ECO:0000305}.
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DR EMBL; AC011455; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS58661.1; -.
DR RefSeq; NP_001230141.1; NM_001243212.1.
DR RefSeq; XP_011525520.1; XM_011527218.2.
DR AlphaFoldDB; I3L3R5; -.
DR STRING; 9606.ENSP00000460665; -.
DR BioMuta; CCER2; -.
DR jPOST; I3L3R5; -.
DR MassIVE; I3L3R5; -.
DR PaxDb; I3L3R5; -.
DR PeptideAtlas; I3L3R5; -.
DR PRIDE; I3L3R5; -.
DR Antibodypedia; 77033; 5 antibodies from 5 providers.
DR DNASU; 643669; -.
DR Ensembl; ENST00000571838.2; ENSP00000460665.1; ENSG00000262484.2.
DR Ensembl; ENST00000635114.1; ENSP00000488939.1; ENSG00000283099.1.
DR GeneID; 643669; -.
DR KEGG; hsa:643669; -.
DR MANE-Select; ENST00000571838.2; ENSP00000460665.1; NM_001243212.2; NP_001230141.1.
DR UCSC; uc021uuj.1; human.
DR CTD; 643669; -.
DR DisGeNET; 643669; -.
DR GeneCards; CCER2; -.
DR HGNC; HGNC:44662; CCER2.
DR HPA; ENSG00000262484; Tissue enhanced (testis).
DR MIM; 617634; gene.
DR neXtProt; NX_I3L3R5; -.
DR OpenTargets; ENSG00000262484; -.
DR VEuPathDB; HostDB:ENSG00000262484; -.
DR eggNOG; ENOG502T87V; Eukaryota.
DR GeneTree; ENSGT00670000099437; -.
DR HOGENOM; CLU_1045679_0_0_1; -.
DR InParanoid; I3L3R5; -.
DR OMA; CGTEPHG; -.
DR OrthoDB; 1380854at2759; -.
DR PathwayCommons; I3L3R5; -.
DR BioGRID-ORCS; 643669; 25 hits in 982 CRISPR screens.
DR ChiTaRS; CCER2; human.
DR GenomeRNAi; 643669; -.
DR Pharos; I3L3R5; Tdark.
DR PRO; PR:I3L3R5; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; I3L3R5; protein.
DR Bgee; ENSG00000262484; Expressed in ganglionic eminence and 91 other tissues.
DR ExpressionAtlas; I3L3R5; baseline and differential.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
PE 2: Evidence at transcript level;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..266
FT /note="Coiled-coil domain-containing glutamate-rich protein
FT 2"
FT /id="PRO_0000425553"
FT REGION 90..266
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 90..191
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 201..266
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 33
FT /note="E -> D (in dbSNP:rs76973734)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079159"
FT VARIANT 39
FT /note="L -> P (in dbSNP:rs530595113)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079160"
FT VARIANT 64
FT /note="E -> D (in dbSNP:rs375222589)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079161"
FT VARIANT 76..80
FT /note="TEEKG -> PS (found in patients with Moyamoya
FT disease; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079162"
FT VARIANT 80
FT /note="G -> V (in dbSNP:rs908319857)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079163"
FT VARIANT 160
FT /note="E -> K (in dbSNP:rs371603378)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079164"
FT VARIANT 195
FT /note="R -> C (in dbSNP:rs569628536)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079165"
FT VARIANT 218..220
FT /note="Missing (found in patients with Moyamoya disease;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079166"
FT VARIANT 220
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079167"
FT VARIANT 224
FT /note="A -> T (in dbSNP:rs1301343892)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079168"
FT VARIANT 229
FT /note="Missing (found in patients with Moyamoya disease;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079169"
FT VARIANT 232
FT /note="E -> A (in dbSNP:rs369436329)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079170"
FT VARIANT 242
FT /note="E -> K (found in patients with Moyamoya disease;
FT unknown pathological significance; dbSNP:rs1205789753)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079171"
FT VARIANT 249
FT /note="D -> G (in dbSNP:rs565410180)"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079172"
SQ SEQUENCE 266 AA; 30352 MW; 24FABE1AD1EE487A CRC64;
MPPRGPASEL LLLRLLLLGA ATAAPLAPRP SKEELTRCLA EVVTEVLTVG QVQRGPCTAL
LHKELCGTEP HGCASTEEKG LLLGDFKKQE AGKMRSSQEV RDEEEEEVAE RTHKSEVQEQ
AIRMQGHRQL HQEEDEEEEK EERKRGPMET FEDLWQRHLE NGGDLQKRVA EKASDKETAQ
FQAEEKGVRV LGGDRSLWQG AERGGGERRE DLPHHHHHHH QPEAEPRQEK EEASEREEKE
VEQLEHLRDE LKKVTETLGE QLRREG
