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Protein

Coiled-coil domain-containing glutamate-rich protein 2

Gene

CCER2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Caution

Despite its name, does not contain a real coiled coil domain region: predicted coiled coil regions are the result of the Glu-rich region.Curated

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing glutamate-rich protein 2
Gene namesi
Name:CCER2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000262484.1
HGNCiHGNC:44662 CCER2
MIMi617634 gene
neXtProtiNX_I3L3R5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000262484

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000042555324 – 266Coiled-coil domain-containing glutamate-rich protein 2Add BLAST243

Proteomic databases

PaxDbiI3L3R5
PRIDEiI3L3R5
ProteomicsDBi47304

Expressioni

Tissue specificityi

Expressed at higher levels in fetal brain and skeletal muscle. Lower expression is detected in fetal kidney, liver, spleen, thymus, heart and lung.1 Publication

Gene expression databases

BgeeiENSG00000262484 Expressed in 81 organ(s), highest expression level in putamen
ExpressionAtlasiI3L3R5 baseline and differential

Organism-specific databases

HPAiHPA069716

Structurei

3D structure databases

ProteinModelPortaliI3L3R5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi99 – 265Glu-richAdd BLAST167
Compositional biasi214 – 220His-rich7

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410JA8V Eukaryota
ENOG4111BDH LUCA
GeneTreeiENSGT00670000099437
InParanoidiI3L3R5
OMAiAERTHKS
OrthoDBiEOG091G0UFY

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

I3L3R5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPPRGPASEL LLLRLLLLGA ATAAPLAPRP SKEELTRCLA EVVTEVLTVG
60 70 80 90 100
QVQRGPCTAL LHKELCGTEP HGCASTEEKG LLLGDFKKQE AGKMRSSQEV
110 120 130 140 150
RDEEEEEVAE RTHKSEVQEQ AIRMQGHRQL HQEEDEEEEK EERKRGPMET
160 170 180 190 200
FEDLWQRHLE NGGDLQKRVA EKASDKETAQ FQAEEKGVRV LGGDRSLWQG
210 220 230 240 250
AERGGGERRE DLPHHHHHHH QPEAEPRQEK EEASEREEKE VEQLEHLRDE
260
LKKVTETLGE QLRREG
Length:266
Mass (Da):30,352
Last modified:July 11, 2012 - v1
Checksum:i24FABE1AD1EE487A
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L3Z9I3L3Z9_HUMAN
Coiled-coil domain-containing gluta...
CCER2
122Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07915933E → D1 PublicationCorresponds to variant dbSNP:rs76973734Ensembl.1
Natural variantiVAR_07916039L → P1 PublicationCorresponds to variant dbSNP:rs530595113Ensembl.1
Natural variantiVAR_07916164E → D1 PublicationCorresponds to variant dbSNP:rs375222589Ensembl.1
Natural variantiVAR_07916276 – 80TEEKG → PS Found in patients with Moyamoya disease; unknown pathological significance. 1 Publication5
Natural variantiVAR_07916380G → V1 Publication1
Natural variantiVAR_079164160E → K1 PublicationCorresponds to variant dbSNP:rs371603378Ensembl.1
Natural variantiVAR_079165195R → C1 PublicationCorresponds to variant dbSNP:rs569628536Ensembl.1
Natural variantiVAR_079166218 – 220Missing Found in patients with Moyamoya disease; unknown pathological significance. 1 Publication3
Natural variantiVAR_079167220Missing 1 Publication1
Natural variantiVAR_079168224A → T1 Publication1
Natural variantiVAR_079169229Missing Found in patients with Moyamoya disease; unknown pathological significance. 1 Publication1
Natural variantiVAR_079170232E → A1 PublicationCorresponds to variant dbSNP:rs369436329Ensembl.1
Natural variantiVAR_079171242E → K Found in patients with Moyamoya disease; unknown pathological significance. 1 Publication1
Natural variantiVAR_079172249D → G1 PublicationCorresponds to variant dbSNP:rs565410180Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC011455 Genomic DNA No translation available.
CCDSiCCDS58661.1
RefSeqiNP_001230141.1, NM_001243212.1
XP_011525520.1, XM_011527218.2
UniGeneiHs.355357

Genome annotation databases

EnsembliENST00000571838; ENSP00000460665; ENSG00000262484
ENST00000635114; ENSP00000488939; ENSG00000283099
GeneIDi643669
KEGGihsa:643669
UCSCiuc021uuj.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC011455 Genomic DNA No translation available.
CCDSiCCDS58661.1
RefSeqiNP_001230141.1, NM_001243212.1
XP_011525520.1, XM_011527218.2
UniGeneiHs.355357

3D structure databases

ProteinModelPortaliI3L3R5
ModBaseiSearch...
MobiDBiSearch...

Proteomic databases

PaxDbiI3L3R5
PRIDEiI3L3R5
ProteomicsDBi47304

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000571838; ENSP00000460665; ENSG00000262484
ENST00000635114; ENSP00000488939; ENSG00000283099
GeneIDi643669
KEGGihsa:643669
UCSCiuc021uuj.1 human

Organism-specific databases

CTDi643669
EuPathDBiHostDB:ENSG00000262484.1
GeneCardsiCCER2
HGNCiHGNC:44662 CCER2
HPAiHPA069716
MIMi617634 gene
neXtProtiNX_I3L3R5
OpenTargetsiENSG00000262484
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JA8V Eukaryota
ENOG4111BDH LUCA
GeneTreeiENSGT00670000099437
InParanoidiI3L3R5
OMAiAERTHKS
OrthoDBiEOG091G0UFY

Miscellaneous databases

GenomeRNAii643669
PROiPR:I3L3R5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000262484 Expressed in 81 organ(s), highest expression level in putamen
ExpressionAtlasiI3L3R5 baseline and differential

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiCCER2_HUMAN
AccessioniPrimary (citable) accession number: I3L3R5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 19, 2014
Last sequence update: July 11, 2012
Last modified: September 12, 2018
This is version 37 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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