CCER1 Gene (Protein Coding)

Coiled-Coil Glutamate Rich Protein 1

GC12M090905
GIFtS:
28
See more...

Aliases for CCER1 Gene

Aliases for CCER1 Gene

  • Coiled-Coil Glutamate Rich Protein 1 2 3 5
  • Coiled-Coil Domain-Containing Glutamate-Rich Protein 1 3 4
  • C12orf12 3 4
  • Coiled-Coil Glutamate-Rich Protein 1 2
  • Chromosome 12 Open Reading Frame 12 2
  • MGC26598 2
  • CCER1 5

External Ids for CCER1 Gene

Previous HGNC Symbols for CCER1 Gene

  • C12orf12

Previous GeneCards Identifiers for CCER1 Gene

  • GC12M091300

Summaries for CCER1 Gene

GeneCards Summary for CCER1 Gene

CCER1 (Coiled-Coil Glutamate Rich Protein 1) is a Protein Coding gene. Diseases associated with CCER1 include Corneal Dystrophy, Posterior Amorphous and Stromal Dystrophy.

Additional gene information for CCER1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCER1 Gene

Genomics for CCER1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CCER1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J090979 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 0.3 -24.5 -24475 3.3 CTCF REST TRIM22 SMC3 RAD21 MAFF CHD2 ZNF654 KERA LUM EPYC DCN piR-60146-030 lnc-C12orf74-16 CCER1
GH12J091344 Enhancer 0.2 FANTOM5 1.4 -389.1 -389084 0.3 CCER1 LINC02823 LOC105369898 DCN lnc-DCN-1 BTG1
GH12J090938 Enhancer 0.5 Ensembl ENCODE 0.4 +16.3 16275 1.4 NFE2 NR2F2 LUM piR-36968 CCER1 lnc-CCER1-1 LINC00615
GH12J090921 Enhancer 0.6 Ensembl ENCODE 0.3 +32.9 32875 1.8 MAFK JUND HNF4A EP300 CEBPB LINC00615 piR-46847-068 lnc-CCER1-1 CCER1
GH12J090908 Enhancer 0.7 Ensembl ENCODE 0.3 +46.5 46523 1.7 CTCF RAD21 SMC3 JUND HLF ZNF143 CEBPB TRIM22 HSALNG0092993 ENSG00000288102 CCER1 lnc-CCER1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCER1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCER1

Genomic Locations for CCER1 Gene

Latest Assembly
chr12:90,905,622-90,955,176
(GRCh38/hg38)
Size:
49,555 bases
Orientation:
Minus strand

Previous Assembly
chr12:91,345,992-91,348,953
(GRCh37/hg19 by Entrez Gene)
Size:
2,962 bases
Orientation:
Minus strand

chr12:91,299,399-91,348,953
(GRCh37/hg19 by Ensembl)
Size:
49,555 bases
Orientation:
Minus strand

Genomic View for CCER1 Gene

Genes around CCER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCER1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CCER1 Gene

Proteins for CCER1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for CCER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC90-CCER1_HUMAN
    Recommended name:
    Coiled-coil domain-containing glutamate-rich protein 1
    Protein Accession:
    Q8TC90
    Secondary Accessions:
    • Q8TC47

    Protein attributes for CCER1 Gene

    Size:
    406 amino acids
    Molecular mass:
    46482 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCER1 Gene

Post-translational modifications for CCER1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCER1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCER1 Gene

Domains & Families for CCER1 Gene

Gene Families for CCER1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCER1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with CCER1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCER1 Gene

Function for CCER1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for CCER1 Gene

Gene Ontology (GO) - Molecular Function for CCER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCER1: view
genes like me logo Genes that share phenotypes with CCER1: view

Animal Models for research

miRNA for CCER1 Gene

miRTarBase miRNAs that target CCER1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCER1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCER1 Gene

Localization for CCER1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCER1 gene
Compartment Confidence
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CCER1 Gene

Pathways & Interactions for CCER1 Gene

PathCards logo

SuperPathways for CCER1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCER1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCER1 Gene

Drugs & Compounds for CCER1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for CCER1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for CCER1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCER1

Alternative Splicing Database (ASD) splice patterns (SP) for CCER1 Gene

No ASD Table

Relevant External Links for CCER1 Gene

GeneLoc Exon Structure for
CCER1

Expression for CCER1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCER1 Gene

mRNA expression in normal human tissues for CCER1 Gene
mRNA expression by BioGPS for CCER1 GenemRNA expression by GTEx for CCER1 Gene

mRNA differential expression in normal tissues according to GTEx for CCER1 Gene

This gene is overexpressed in Testis (x52.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCER1

SOURCE GeneReport for Unigene cluster for CCER1 Gene:

Hs.128574
genes like me logo Genes that share expression patterns with CCER1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCER1 Gene

Orthologs for CCER1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CCER1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CCER1 30 31
  • 96.12 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CCER1 30
  • 77.73 (n)
Cow
(Bos Taurus)
 Mammalia CCER1 30 31
  • 77.05 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ccer1 30
  • 72.45 (n)
Mouse
(Mus musculus)
 Mammalia Ccer1 30 17 31
  • 72.32 (n)
 OneToOne
Species where no ortholog for CCER1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CCER1 Gene

ENSEMBL:
Gene Tree for CCER1 (if available)
TreeFam:
Gene Tree for CCER1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCER1: view image

Paralogs for CCER1 Gene

No data available for Paralogs for CCER1 Gene

Variants for CCER1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCER1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11105882 - p.Asp286Glu
rs17855513 - p.Ile379Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCER1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCER1 Gene

Variant ID Type Subtype PubMed ID
nsv832483 CNV gain 17160897

Variation tolerance for CCER1 Gene

Residual Variation Intolerance Score: 64.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCER1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCER1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCER1 Gene

Disorders for CCER1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CCER1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search CCER1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CCER1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CCER1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCER1 Gene

Publications for CCER1 Gene

  1. Genome-wide profiling of DNA methylation reveals a class of normally methylated CpG island promoters. (PMID: 17967063) Shen L … Issa JP (PLoS genetics 2007) 2 3
  2. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

ExternalLinks

View latest publications for CCER1 gene in Mastermind

Products for CCER1 Gene

Sources for CCER1 Gene