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Aliases for CGREF1 Gene

Aliases for CGREF1 Gene

  • Cell Growth Regulator With EF-Hand Domain 1 2 3 5
  • Cell Growth Regulatory Gene 11 Protein 3 4
  • Hydrophobestin 3 4
  • CGR11 3 4
  • Cell Growth Regulator With EF Hand Domain Protein 1 3

External Ids for CGREF1 Gene

Previous GeneCards Identifiers for CGREF1 Gene

  • GC02M027280
  • GC02M027298
  • GC02M027235
  • GC02M027176
  • GC02M027321
  • GC02M027064

Summaries for CGREF1 Gene

GeneCards Summary for CGREF1 Gene

CGREF1 (Cell Growth Regulator With EF-Hand Domain 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot for CGREF1 Gene

  • Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several cell lines.

Additional gene information for CGREF1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CGREF1 Gene

Genomics for CGREF1 Gene

GeneHancer (GH) Regulatory Elements for CGREF1 Gene

Promoters and enhancers for CGREF1 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
GH02I027117 Promoter/Enhancer 1.3 EPDnew Ensembl 550.8 +0.6 622 2.1 ZSCAN4 SIN3A ZBTB40 ZNF335 GLIS2 ZNF362 REST ZNF398 GLIS1 ZBTB33 CGREF1 KHK GC02P027111
GH02I027111 Promoter 0.6 EPDnew 550.4 +8.0 8005 0.1 NFYC GC02P027111 CGREF1 KHK
GH02I027085 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.8 +31.6 31641 4.8 HDGF CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 KHK GC02M027085 SNX17 ATRAID GTF3C2 NRBP1 TMEM214 CAD LOC105374363 GPN1
GH02I027090 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.1 +25.2 25212 6.6 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 KHK ABHD1 CGREF1 ATRAID SLC5A6 CAD PRR30 TCF23 PREB AGBL5-AS1
GH02I027169 Enhancer 1.2 Ensembl ENCODE 10.5 -52.1 -52141 2.9 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 ARID2 ZNF143 ATRAID GTF3C2 TCF23 PRR30 PREB SLC5A6 ABHD1 CAD SLC30A3 DNAJC5G
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CGREF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CGREF1 gene promoter:

Genomic Locations for CGREF1 Gene

Genomic Locations for CGREF1 Gene
chr2:27,098,889-27,119,127
(GRCh38/hg38)
Size:
20,239 bases
Orientation:
Minus strand
chr2:27,321,757-27,341,995
(GRCh37/hg19)

Genomic View for CGREF1 Gene

Genes around CGREF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CGREF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CGREF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CGREF1 Gene

Proteins for CGREF1 Gene

  • Protein details for CGREF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99674-CGRE1_HUMAN
    Recommended name:
    Cell growth regulator with EF hand domain protein 1
    Protein Accession:
    Q99674
    Secondary Accessions:
    • A6NHV7
    • B4DXY8
    • B5MCB7
    • B5MCC9
    • B5MCP5
    • E7EU99
    • Q8N4B7

    Protein attributes for CGREF1 Gene

    Size:
    301 amino acids
    Molecular mass:
    31905 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CGREF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CGREF1 Gene

Post-translational modifications for CGREF1 Gene

  • Probably digested extracellularly by an unknown serine protease generating extremely hydrophobic bioactive peptides.
  • Glycosylation at posLast=6969, Ser159, Ser170, and posLast=181181

No data available for DME Specific Peptides for CGREF1 Gene

Domains & Families for CGREF1 Gene

Gene Families for CGREF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CGREF1 Gene

Suggested Antigen Peptide Sequences for CGREF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99674

UniProtKB/Swiss-Prot:

CGRE1_HUMAN :
  • Both EF-hands are required for function.
Domain:
  • Both EF-hands are required for function.
genes like me logo Genes that share domains with CGREF1: view

Function for CGREF1 Gene

Molecular function for CGREF1 Gene

UniProtKB/Swiss-Prot Function:
Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several cell lines.
UniProtKB/Swiss-Prot Induction:
By p53/TP53.

Phenotypes From GWAS Catalog for CGREF1 Gene

Gene Ontology (GO) - Molecular Function for CGREF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CGREF1: view
genes like me logo Genes that share phenotypes with CGREF1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CGREF1 Gene

Localization for CGREF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CGREF1 Gene

Secreted.

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 CGREF1 gene
Compartment Confidence
extracellular 4
cytoskeleton 2
nucleus 2
cytosol 2
golgi apparatus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CGREF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with CGREF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CGREF1 Gene

Pathways & Interactions for CGREF1 Gene

SuperPathways for CGREF1 Gene

No Data Available

Interacting Proteins for CGREF1 Gene

Gene Ontology (GO) - Biological Process for CGREF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006950 response to stress TAS 8968090
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IEA --
GO:0007155 cell adhesion IEA --
GO:0008285 negative regulation of cell proliferation TAS 8968090
genes like me logo Genes that share ontologies with CGREF1: view

No data available for Pathways by source and SIGNOR curated interactions for CGREF1 Gene

Drugs & Compounds for CGREF1 Gene

No Compound Related Data Available

Transcripts for CGREF1 Gene

Unigene Clusters for CGREF1 Gene

Cell growth regulator with EF-hand domain 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CGREF1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1:
SP2:

Relevant External Links for CGREF1 Gene

GeneLoc Exon Structure for
CGREF1
ECgene alternative splicing isoforms for
CGREF1

Expression for CGREF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CGREF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CGREF1 Gene

This gene is overexpressed in Lavage (50.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CGREF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CGREF1 Gene:

CGREF1

SOURCE GeneReport for Unigene cluster for CGREF1 Gene:

Hs.159525

Evidence on tissue expression from TISSUES for CGREF1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with CGREF1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CGREF1 Gene

Orthologs for CGREF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CGREF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CGREF1 33 34
  • 99.16 (n)
cow
(Bos Taurus)
Mammalia CGREF1 33 34
  • 80.79 (n)
dog
(Canis familiaris)
Mammalia CGREF1 33 34
  • 80.64 (n)
mouse
(Mus musculus)
Mammalia Cgref1 33 16 34
  • 75.3 (n)
rat
(Rattus norvegicus)
Mammalia Cgref1 33
  • 74.4 (n)
oppossum
(Monodelphis domestica)
Mammalia CGREF1 34
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CGREF1 34
  • 25 (a)
OneToOne
Species where no ortholog for CGREF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 squirt (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)

Evolution for CGREF1 Gene

ENSEMBL:
Gene Tree for CGREF1 (if available)
TreeFam:
Gene Tree for CGREF1 (if available)

Paralogs for CGREF1 Gene

No data available for Paralogs for CGREF1 Gene

Variants for CGREF1 Gene

Sequence variations from dbSNP and Humsavar for CGREF1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1131375 benign, Fructosuria, essential 27,100,517(-) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant
rs113859516 likely-benign, Fructosuria, essential 27,100,556(-) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs114353144 uncertain-significance, Fructosuria, essential 27,099,556(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs138164728 uncertain-significance, Fructosuria, essential 27,099,673(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs148558475 uncertain-significance, Fructosuria, essential 27,100,076(-) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CGREF1 Gene

Variant ID Type Subtype PubMed ID
nsv833603 CNV loss 17160897
nsv817673 CNV gain 17921354
nsv455974 CNV loss 19166990
esv989926 CNV deletion 20482838
esv3590133 CNV loss 21293372
esv2719834 CNV deletion 23290073
esv2719833 CNV deletion 23290073
esv2673470 CNV deletion 23128226
esv1742991 CNV deletion 17803354
dgv6744n54 CNV loss 21841781

Variation tolerance for CGREF1 Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CGREF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CGREF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CGREF1 Gene

Disorders for CGREF1 Gene

Additional Disease Information for CGREF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CGREF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CGREF1 Gene

Publications for CGREF1 Gene

  1. Induction of cell growth regulatory genes by p53. (PMID: 8968090) Madden SL … Beaudry GA (Cancer research 1996) 2 3 4 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. The novel secretory protein CGREF1 inhibits the activation of AP-1 transcriptional activity and cell proliferation. (PMID: 26022276) Deng W … Ma D (The international journal of biochemistry & cell biology 2015) 3 58
  4. Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. (PMID: 24483146) Li L … Wang L (BMC genomics 2014) 3 58
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 58

Products for CGREF1 Gene

Sources for CGREF1 Gene

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