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Aliases for CECR6 Gene

Aliases for CECR6 Gene

  • Cat Eye Syndrome Chromosome Region, Candidate 6 2 3 5

External Ids for CECR6 Gene

Previous GeneCards Identifiers for CECR6 Gene

  • GC22M014541
  • GC22M015971
  • GC22M017597
  • GC22M001417

Summaries for CECR6 Gene

GeneCards Summary for CECR6 Gene

CECR6 (Cat Eye Syndrome Chromosome Region, Candidate 6) is a Protein Coding gene. Diseases associated with CECR6 include Cat Eye Syndrome.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CECR6 Gene

Genomics for CECR6 Gene

Regulatory Elements for CECR6 Gene

Enhancers for CECR6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G017074 1.3 Ensembl ENCODE dbSUPER 11.6 +45.9 45942 1.2 ARNT KLF17 RAD21 SCRT2 FOS ZNF391 EGR2 ZNF654 YY2 REST CECR7 LINC01664 CECR6 ADA2 CECR3 ENSG00000273203 ENSG00000273442
GH22G017157 1.2 ENCODE 12.1 -37.7 -37733 2.6 CREB3L1 AGO1 YY1 ZNF143 SP3 NFYC GLIS1 NBN NR2C1 KDM1A HDHD5 CECR6 LINC01664 HDHD5-AS1 GC22P017137
GH22G017077 1 ENCODE dbSUPER 11.7 +43.9 43852 0.8 CTCF ESRRA RB1 ARID4B RAD21 ZNF143 SMC3 FOS DNMT1 SCRT1 LINC01664 CECR6 ADA2 CECR3 ENSG00000273442 ENSG00000273203
GH22G017152 0.9 ENCODE 12.1 -31.8 -31783 0.6 HDGF NFRKB ZNF335 TCF12 GATA2 ZBTB11 ZEB2 TFDP1 POLR2H ZNF589 CECR6 LINC01664 IL17RA HDHD5 HDHD5-AS1 GC22P017137
GH22G017115 0.8 ENCODE dbSUPER 12.1 +4.2 4169 3.3 PKNOX1 ZNF146 ZNF766 POLR2A ZIC2 ZNF2 SPI1 CECR6 IL17RA GC22P017113
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CECR6 on UCSC Golden Path with GeneCards custom track

Promoters for CECR6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000143502 267 1001 SIN3A GLI4 ZNF121 GLIS2 ZNF143 SP3 TSHZ1 MIER2 REST SMARCA4

Genomic Location for CECR6 Gene

17,116,299 bp from pter
17,121,367 bp from pter
5,069 bases
Minus strand

Genomic View for CECR6 Gene

Genes around CECR6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CECR6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CECR6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CECR6 Gene

Proteins for CECR6 Gene

  • Protein details for CECR6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cat eye syndrome critical region protein 6
    Protein Accession:
    Secondary Accessions:
    • A8MYY1

    Protein attributes for CECR6 Gene

    578 amino acids
    Molecular mass:
    58425 Da
    Quaternary structure:
    No Data Available
    • Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

    Alternative splice isoforms for CECR6 Gene


neXtProt entry for CECR6 Gene

Post-translational modifications for CECR6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CECR6 Gene

No data available for DME Specific Peptides for CECR6 Gene

Domains & Families for CECR6 Gene

Protein Domains for CECR6 Gene


Suggested Antigen Peptide Sequences for CECR6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CECR6: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CECR6 Gene

Function for CECR6 Gene

genes like me logo Genes that share phenotypes with CECR6: view

Animal Model Products

CRISPR Products

miRNA for CECR6 Gene

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CECR6 Gene

Localization for CECR6 Gene

Subcellular locations from

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 CECR6 gene
Compartment Confidence
plasma membrane 3
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CECR6 Gene

Pathways & Interactions for CECR6 Gene

SuperPathways for CECR6 Gene

No Data Available

Interacting Proteins for CECR6 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000329318 Q9BXQ6-CECR6_HUMAN for CECR6 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CECR6 Gene


No data available for Pathways by source and SIGNOR curated interactions for CECR6 Gene

Drugs & Compounds for CECR6 Gene

No Compound Related Data Available

Transcripts for CECR6 Gene

Unigene Clusters for CECR6 Gene

Cat eye syndrome chromosome region, candidate 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CECR6 Gene

No ASD Table

Relevant External Links for CECR6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CECR6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CECR6 Gene

mRNA differential expression in normal tissues according to GTEx for CECR6 Gene

This gene is overexpressed in Brain - Cortex (x4.7), Whole Blood (x4.7), and Brain - Frontal Cortex (BA9) (x4.4).

Protein differential expression in normal tissues from HIPED for CECR6 Gene

This gene is overexpressed in Fetal Brain (31.9), Saliva (21.3), and Frontal cortex (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CECR6 Gene

Protein tissue co-expression partners for CECR6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CECR6 Gene:


SOURCE GeneReport for Unigene cluster for CECR6 Gene:


mRNA Expression by UniProt/SwissProt for CECR6 Gene:

Tissue specificity: Widely expressed, especially in adult heart, brain, prostate, testes, peripherical blood leukocytes and fetal brain.
genes like me logo Genes that share expression patterns with CECR6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CECR6 Gene

Orthologs for CECR6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CECR6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CECR6 34 35
  • 99.55 (n)
(Rattus norvegicus)
Mammalia Cecr6 34
  • 87.74 (n)
(Canis familiaris)
Mammalia CECR6 34 35
  • 87.17 (n)
(Mus musculus)
Mammalia Cecr6 34 16 35
  • 86.01 (n)
(Bos Taurus)
Mammalia CECR6 34
  • 81.86 (n)
(Monodelphis domestica)
Mammalia CECR6 35
  • 75 (a)
(Gallus gallus)
Aves CECR6 34 35
  • 74.66 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr6 34
  • 60.61 (n)
(Danio rerio)
Actinopterygii LOC796113 34
  • 58.2 (n)
CECR6 35
  • 44 (a)
Species where no ortholog for CECR6 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CECR6 Gene

Gene Tree for CECR6 (if available)
Gene Tree for CECR6 (if available)

Paralogs for CECR6 Gene

No data available for Paralogs for CECR6 Gene

Variants for CECR6 Gene

Sequence variations from dbSNP and Humsavar for CECR6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1001502200 -- 17,123,311(+) GGGCA(A/G)CAAGA intron-variant, upstream-variant-2KB
rs1002541299 -- 17,121,588(+) GGCGC(A/G)GGCAG upstream-variant-2KB
rs1003135404 -- 17,120,378(+) CGGCC(C/T)CGGCT intron-variant, upstream-variant-2KB, reference, synonymous-codon
rs1003514001 -- 17,120,640(+) CGCTG(C/T)CGGTC intron-variant, upstream-variant-2KB, reference, missense
rs1004092343 -- 17,119,299(+) TTCCA(A/T)ATAGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CECR6 Gene

Variant ID Type Subtype PubMed ID
dgv4460n100 CNV gain 25217958
esv3647204 CNV gain 21293372
esv3647208 CNV gain 21293372
nsv1064641 CNV gain 25217958
nsv1067241 CNV loss 25217958
nsv1126618 CNV deletion 24896259
nsv509805 CNV insertion 20534489
nsv828923 CNV gain 20364138
nsv828924 CNV gain 20364138

Variation tolerance for CECR6 Gene

Gene Damage Index Score: 2.77; 47.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CECR6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CECR6 Gene

Disorders for CECR6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CECR6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cat eye syndrome
  • ces
- elite association - COSMIC cancer census association via MalaCards
Search CECR6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CECR6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CECR6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CECR6 Gene

Publications for CECR6 Gene

  1. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. (PMID: 11381032) Footz T.K. … McDermid H.E. (Genome Res. 2001) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. (PMID: 25130324) Cai D.C. … Hagoort P. (Genes Brain Behav. 2014) 3 64
  4. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S. … Seielstad M. (Genes Immun. 2010) 3 64
  5. The PcG protein hPc2 interacts with the N-terminus of histone demethylase JARID1B and acts as a transcriptional co-repressor. (PMID: 19336002) Zhou W. … Zhang L. (BMB Rep 2009) 3 64

Products for CECR6 Gene

Sources for CECR6 Gene

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