Aliases for CGREF1 Gene

Aliases for CGREF1 Gene

  • Cell Growth Regulator With EF-Hand Domain 1 2 3 5
  • CGR11 2 3 4
  • Cell Growth Regulator With EF Hand Domain Protein 1 3 4
  • Cell Growth Regulatory Gene 11 Protein 3 4
  • Hydrophobestin 3 4
  • CGREF1 5

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. Diseases associated with CGREF1 include Fructosuria, Essential. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MCFD2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CGREF1 Gene

Genomics for CGREF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH02J027117 Promoter 0.9 Ensembl 600.7 +0.2 227 1 KDM1A ZIC2 ZSCAN4 POLR2A ZNF501 EZH2 MNT ZFX REST ZBTB26 CGREF1 KHK piR-31470-271
GH02J027069 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.4 +39.7 39666 20.9 ARHGAP35 SP1 CREB1 GATAD2A CTCF HNRNPL TEAD4 PRDM10 ZNF629 REST KHK EMILIN1 OST4 MN297632 CAD GTF3C2 NRBP1 SNX17 ENSG00000234072 ATRAID
GH02J027090 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 +25.4 25361 6.3 HNRNPL GATAD2A REST TFE3 SIX5 LEF1 SOX13 IKZF1 NFKBIZ RCOR2 KHK CAD ENSG00000234072 GTF3C2 SNX17 ATRAID GTF3C2-AS1 ZNF513 GPN1 EIF2B4
GH02J027263 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 10.5 -144.5 -144473 3.6 HNRNPL GATAD2A CTCF PRDM10 ZNF629 TFE3 NFKBIZ ZNF692 ZNF7 ZIC2 SLC30A3 GTF3C2 CAD SNX17 ATRAID GTF3C2-AS1 ENSG00000234072 PREB EMILIN1 TMEM214
GH02J027170 Enhancer 1 ENCODE 10.5 -52.4 -52376 2.5 HNRNPL CREB1 GATAD2A CTCF ATF7 TFE3 SOX13 NFKBIZ RCOR2 JUND GTF3C2 TCF23 PRR30 PREB ATRAID SLC5A6 ABHD1 CAD DNAJC5G SLC30A3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CGREF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CGREF1

Top Transcription factor binding sites by QIAGEN in the CGREF1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • HEN1
  • HNF-4alpha1
  • LCR-F1
  • Nkx2-2
  • STAT3

Genomic Locations for CGREF1 Gene

Genomic Locations for CGREF1 Gene
chr2:27,098,889-27,119,128
(GRCh38/hg38)
Size:
20,240 bases
Orientation:
Minus strand
chr2:27,321,757-27,341,995
(GRCh37/hg19)
Size:
20,239 bases
Orientation:
Minus strand

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:
    318 amino acids
    Molecular mass:
    33456 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAX93168.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    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 Thr61, Ser69, Ser159, Ser170, Ser175, and Thr181
  • Modification sites at PhosphoSitePlus

Protein Products

  • Abcam proteins for CGREF1

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:
  • Hydrophobestin (CGRE1_HUMAN)

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

  • Taconic Biosciences Mouse Models for CGREF1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CGREF1

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
plasma membrane 1
mitochondrion 1
golgi apparatus 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

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

Pathways & Interactions for CGREF1 Gene

PathCards logo

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: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

mRNA/cDNA for CGREF1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CGREF1

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

Expression for CGREF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CGREF1

SOURCE GeneReport for Unigene cluster for CGREF1 Gene:

Hs.159525

Evidence on tissue expression from TISSUES for CGREF1 Gene

  • Nervous system(4.6)
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 30 31
  • 99.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CGREF1 30 31
  • 80.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CGREF1 30 31
  • 80.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cgref1 30 17 31
  • 75.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cgref1 30
  • 74.4 (n)
Oppossum
(Monodelphis domestica)
Mammalia CGREF1 31
  • 46 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii CGREF1 31
  • 25 (a)
OneToOne
Species where no ortholog for CGREF1 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)
  • 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)

Evolution for CGREF1 Gene

ENSEMBL:
Gene Tree for CGREF1 (if available)
TreeFam:
Gene Tree for CGREF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CGREF1: view image

Paralogs for CGREF1 Gene

Paralogs for CGREF1 Gene

genes like me logo Genes that share paralogs with CGREF1: view

Variants for CGREF1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CGREF1 Gene

CGRE1_HUMAN-Q99674
The number of repeats of 17 amino acids in the C-terminal is polymorphic and varies between 3 and 4. The majority of available transcripts lacks one of these repeats. The sequence shown, corresponding to the reference genome (GRCh38/hg38), contains 4 repeats.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CGREF1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
711815 Benign: Fructosuria, essential; not provided 27,099,732(-) C/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
728529 Benign: not provided 27,099,411(-) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
895373 Uncertain Significance: Fructosuria, essential 27,099,453(-) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
895374 Uncertain Significance: Fructosuria, essential 27,099,454(-) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
895375 Uncertain Significance: Fructosuria, essential 27,099,464(-) T/G MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for CGREF1 Gene

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

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

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

Disorders for CGREF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CGREF1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
fructosuria, essential
  • hepatic fructokinase deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CGREF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CGREF1: view

No data available for 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
  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 41
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. 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
  5. 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

Products for CGREF1 Gene

Sources for CGREF1 Gene