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Aliases for CECR6 Gene

Aliases for CECR6 Gene

  • Cat Eye Syndrome Chromosome Region, Candidate 6 2 3

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 22q11.2 duplication and cat eye syndrome.

No data available for Entrez Gene 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CECR6 Gene at MOPED

Post-translational modifications for CECR6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CECR6 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Phenotypes for CECR6 Gene

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

Animal Model Products

miRNA for CECR6 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CECR6

In Situ Assay Products

Flow Cytometry Products

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

Localization for CECR6 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS 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: Q9BXQ6-CECR6_HUMAN ENSP00000329318 for CECR6 Gene via I2D STRING

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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CECR6

Flow Cytometry 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 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

SOURCE GeneReport for Unigene cluster for CECR6 Gene Hs.209577

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

Protein tissue co-expression partners for CECR6 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
(Bos Taurus)
Mammalia CECR6 35
  • 81.86 (n)
  • 80 (a)
(Canis familiaris)
Mammalia CECR6 35
  • 87.17 (n)
  • 86.05 (a)
CECR6 36
  • 86 (a)
(Mus musculus)
Mammalia Cecr6 35
  • 86.01 (n)
  • 89.64 (a)
Cecr6 16
Cecr6 36
  • 88 (a)
(Pan troglodytes)
Mammalia CECR6 35
  • 99.55 (n)
  • 99.66 (a)
CECR6 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cecr6 35
  • 87.74 (n)
  • 90.16 (a)
(Monodelphis domestica)
Mammalia CECR6 36
  • 75 (a)
(Gallus gallus)
Aves CECR6 35
  • 74.66 (n)
  • 66.53 (a)
CECR6 36
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr6 35
  • 60.61 (n)
  • 59.42 (a)
(Danio rerio)
Actinopterygii LOC796113 35
  • 58.2 (n)
  • 51.13 (a)
CECR6 36
  • 44 (a)
Species with no ortholog for CECR6:
  • 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 MAF
rs11160 -- 17,116,407(-) TAGAG(C/T)CTGGA utr-variant-3-prime
rs738033 -- 17,118,954(-) TGTCT(A/C)TTGGA utr-variant-3-prime, intron-variant
rs971768 -- 17,116,572(+) CAGGC(A/G)GTTCT utr-variant-3-prime
rs974396 -- 17,118,280(+) GAGGA(A/G)GGACA utr-variant-3-prime, intron-variant
rs2277830 -- 17,118,970(+) GTGGA(A/C)AGTGG utr-variant-3-prime, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv828923 CNV Gain 20364138
nsv509805 CNV Insertion 20534489
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

HapMap Linkage Disequilibrium report

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

Disorders for CECR6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
22q11.2 duplication
  • chromosome 22q11.2 microduplication syndrome
cat eye syndrome
  • ces
- elite association
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 67
  2. 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) 67
  3. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S. … Seielstad M. (Genes Immun. 2010) 67
  4. 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) 67
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 67

Products for CECR6 Gene

Sources for CECR6 Gene

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