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 16-JAN-2019, entry version 38. 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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., RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., RA 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; RP 76-THR--GLY-80 DELINS PRO-SER; VAL-80; LYS-160; CYS-195; RP 218-HIS--HIS-220 DEL; HIS-220 DEL; THR-224; GLU-229 DEL; ALA-232; RP 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., RA Kudo T., Sumita K., Maehara T., Kawamata T., Kasuya H., Akagawa H.; RT "Exome sequencing identified CCER2 as a novel candidate gene for RT Moyamoya 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, CC liver, spleen, thymus, heart and lung. CC {ECO:0000269|PubMed:27717682}. CC -!- CAUTION: Despite its name, does not contain a real coiled coil CC domain region: predicted coiled coil regions are the result of the CC Glu-rich region. {ECO:0000305}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- 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 UniGene; Hs.355357; -. DR ProteinModelPortal; I3L3R5; -. DR BioMuta; CCER2; -. DR PaxDb; I3L3R5; -. DR PRIDE; I3L3R5; -. DR ProteomicsDB; 47304; -. DR Ensembl; ENST00000571838; ENSP00000460665; ENSG00000262484. DR Ensembl; ENST00000635114; ENSP00000488939; ENSG00000283099. DR GeneID; 643669; -. DR KEGG; hsa:643669; -. DR UCSC; uc021uuj.1; human. DR CTD; 643669; -. DR EuPathDB; HostDB:ENSG00000262484.1; -. DR GeneCards; CCER2; -. DR HGNC; HGNC:44662; CCER2. DR HPA; HPA069716; -. DR MIM; 617634; gene. DR neXtProt; NX_I3L3R5; -. DR OpenTargets; ENSG00000262484; -. DR eggNOG; ENOG410JA8V; Eukaryota. DR eggNOG; ENOG4111BDH; LUCA. DR GeneTree; ENSGT00670000099437; -. DR InParanoid; I3L3R5; -. DR OMA; AERTHKS; -. DR OrthoDB; 1380854at2759; -. DR GenomeRNAi; 643669; -. DR PRO; PR:I3L3R5; -. DR Proteomes; UP000005640; Chromosome 19. DR Bgee; ENSG00000262484; Expressed in 81 organ(s), highest expression level in putamen. DR ExpressionAtlas; I3L3R5; baseline and differential. DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell. PE 2: Evidence at transcript level; KW Complete proteome; Polymorphism; Reference proteome; Secreted; Signal. FT SIGNAL 1 23 {ECO:0000255}. FT CHAIN 24 266 Coiled-coil domain-containing glutamate- FT rich protein 2. FT /FTId=PRO_0000425553. FT COMPBIAS 99 265 Glu-rich. FT COMPBIAS 214 220 His-rich. FT VARIANT 33 33 E -> D (in dbSNP:rs76973734). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079159. FT VARIANT 39 39 L -> P (in dbSNP:rs530595113). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079160. FT VARIANT 64 64 E -> D (in dbSNP:rs375222589). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079161. FT VARIANT 76 80 TEEKG -> PS (found in patients with FT Moyamoya disease; unknown pathological FT significance). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079162. FT VARIANT 80 80 G -> V (in dbSNP:rs908319857). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079163. FT VARIANT 160 160 E -> K (in dbSNP:rs371603378). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079164. FT VARIANT 195 195 R -> C (in dbSNP:rs569628536). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079165. FT VARIANT 218 220 Missing (found in patients with Moyamoya FT disease; unknown pathological FT significance). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079166. FT VARIANT 220 220 Missing. {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079167. FT VARIANT 224 224 A -> T (in dbSNP:rs1301343892). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079168. FT VARIANT 229 229 Missing (found in patients with Moyamoya FT disease; unknown pathological FT significance). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079169. FT VARIANT 232 232 E -> A (in dbSNP:rs369436329). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079170. FT VARIANT 242 242 E -> K (found in patients with Moyamoya FT disease; unknown pathological FT significance; dbSNP:rs1205789753). FT {ECO:0000269|PubMed:27717682}. FT /FTId=VAR_079171. FT VARIANT 249 249 D -> G (in dbSNP:rs565410180). FT {ECO:0000269|PubMed:27717682}. FT /FTId=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 //