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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 , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around CECR6 on UCSC Golden Path with GeneCards custom track

Genomic Location for CECR6 Gene

Chromosome:
22
Start:
17,116,299 bp from pter
End:
17,121,367 bp from pter
Size:
5,069 bases
Orientation:
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:
    Q9BXQ6-CECR6_HUMAN
    Recommended name:
    Cat eye syndrome critical region protein 6
    Protein Accession:
    Q9BXQ6
    Secondary Accessions:
    • A8MYY1

    Protein attributes for CECR6 Gene

    Size:
    578 amino acids
    Molecular mass:
    58425 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

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

miRNA for CECR6 Gene

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

COMPARTMENTS
Jensen Localization Image for CECR6 Gene 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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000329318%0d%0a9606.ENSP00000356234%0d%0a
Selected Interacting proteins: ENSP00000329318 Q9BXQ6-CECR6_HUMAN for CECR6 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CECR6 Gene

None

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:

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

No ASD Table

Relevant External Links for CECR6 Gene

GeneLoc Exon Structure for
CECR6
ECgene alternative splicing isoforms for
CECR6

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

Q9BXQ6-CECR6_HUMAN
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

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
cow
(Bos Taurus)
Mammalia CECR6 35
  • 81.86 (n)
  • 80 (a)
dog
(Canis familiaris)
Mammalia CECR6 35
  • 87.17 (n)
  • 86.05 (a)
CECR6 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cecr6 35
  • 86.01 (n)
  • 89.64 (a)
Cecr6 16
Cecr6 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CECR6 35
  • 99.55 (n)
  • 99.66 (a)
CECR6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cecr6 35
  • 87.74 (n)
  • 90.16 (a)
oppossum
(Monodelphis domestica)
Mammalia CECR6 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CECR6 35
  • 74.66 (n)
  • 66.53 (a)
CECR6 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr6 35
  • 60.61 (n)
  • 59.42 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC796113 35
  • 58.2 (n)
  • 51.13 (a)
CECR6 36
  • 44 (a)
OneToOne
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

ENSEMBL:
Gene Tree for CECR6 (if available)
TreeFam:
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
rs11160 -- 17,116,407(-) TAGAG(C/T)CTGGA utr-variant-3-prime
rs2277830 -- 17,118,970(+) GTGGA(A/C)AGTGG intron-variant, utr-variant-3-prime
rs7289082 -- 17,116,878(+) CTGAT(A/G)TCTGC intron-variant, utr-variant-3-prime
rs34223308 -- 17,116,926(+) CAGGG(-/G)AAGTG intron-variant, utr-variant-3-prime
rs34451177 -- 17,116,855(+) TGACT(-/G)GGGGC intron-variant, utr-variant-3-prime

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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)
CECR6
Human Genome Epidemiology (HuGE) Navigator
CECR6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CECR6
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 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) 3
  3. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S. … Seielstad M. (Genes Immun. 2010) 3
  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) 3
  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) 3

Products for CECR6 Gene

Sources for CECR6 Gene

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