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Aliases for CECR5 Gene

Aliases for CECR5 Gene

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

External Ids for CECR5 Gene

Previous GeneCards Identifiers for CECR5 Gene

  • GC22M014562
  • GC22M015992
  • GC22M017618
  • GC22M001437

Summaries for CECR5 Gene

GeneCards Summary for CECR5 Gene

CECR5 (Cat Eye Syndrome Chromosome Region, Candidate 5) is a Protein Coding gene. Diseases associated with CECR5 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 CECR5 Gene

Genomics for CECR5 Gene

Regulatory Elements for CECR5 Gene

Enhancers for CECR5 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
GH22F017157 1.2 ENCODE 9.9 +6.2 6188 2.6 PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF2 YY1 ZNF207 ZNF143 FOS CECR6 LINC01664 CECR5 CECR5-AS1 GC22P017137
GH22F017627 1.1 ENCODE 9.8 -463.5 -463515 2.6 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 FOS CEBPZ SP3 ATP6V1E1 CECR5 ENSG00000236890 BCL2L13 PIR61133
GH22F017999 1.1 ENCODE 9.8 -835.5 -835534 3.2 PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF143 MICAL3 ENSG00000093100 E2F6P1 ENSG00000236890 CECR5 ENSG00000234913 ENSG00000235445
GH22F017131 0.8 Ensembl ENCODE 12.6 +33.3 33275 1.2 CTCF ZNF316 RFX1 GLIS1 ZIC2 EMSY MAFK CECR5-AS1 CECR5 CECR2 CECR1 CECR3 LINC01664 IL17RA GC22P017136
GH22F017170 1.6 FANTOM5 Ensembl ENCODE 5.3 -6.6 -6637 2.3 HDGF CREB3L1 ZFP64 SIN3A ZNF2 YY1 ZNF143 ZNF207 SP3 REST IL17RA CECR5 RPL32P5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CECR5 on UCSC Golden Path with GeneCards custom track

Genomic Location for CECR5 Gene

Chromosome:
22
Start:
17,137,511 bp from pter
End:
17,165,287 bp from pter
Size:
27,777 bases
Orientation:
Minus strand

Genomic View for CECR5 Gene

Genes around CECR5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CECR5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CECR5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CECR5 Gene

Proteins for CECR5 Gene

  • Protein details for CECR5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXW7-CECR5_HUMAN
    Recommended name:
    Cat eye syndrome critical region protein 5
    Protein Accession:
    Q9BXW7
    Secondary Accessions:
    • B2RCK5
    • Q9BXW8
    • Q9NWA8
    • Q9NX41

    Protein attributes for CECR5 Gene

    Size:
    423 amino acids
    Molecular mass:
    46321 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 CECR5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CECR5 Gene

Post-translational modifications for CECR5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CECR5 Gene

Domains & Families for CECR5 Gene

Protein Domains for CECR5 Gene

Suggested Antigen Peptide Sequences for CECR5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CECR5: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CECR5 Gene

Function for CECR5 Gene

genes like me logo Genes that share phenotypes with CECR5: view

Animal Model Products

miRNA for CECR5 Gene

Inhibitory RNA Products

Flow Cytometry 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 CECR5 Gene

Localization for CECR5 Gene

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 CECR5 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CECR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with CECR5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CECR5 Gene

Pathways & Interactions for CECR5 Gene

SuperPathways for CECR5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CECR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046474 glycerophospholipid biosynthetic process IBA --
genes like me logo Genes that share ontologies with CECR5: view

No data available for Pathways by source and SIGNOR curated interactions for CECR5 Gene

Transcripts for CECR5 Gene

Unigene Clusters for CECR5 Gene

Cat eye syndrome chromosome region, candidate 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CECR5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5:
SP6: -
SP7: -

Relevant External Links for CECR5 Gene

GeneLoc Exon Structure for
CECR5
ECgene alternative splicing isoforms for
CECR5

Expression for CECR5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CECR5 Gene

Protein differential expression in normal tissues from HIPED for CECR5 Gene

This gene is overexpressed in Stomach (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CECR5 Gene



Protein tissue co-expression partners for CECR5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CECR5 Gene:

CECR5

SOURCE GeneReport for Unigene cluster for CECR5 Gene:

Hs.26890

mRNA Expression by UniProt/SwissProt for CECR5 Gene:

Q9BXW7-CECR5_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with CECR5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CECR5 Gene

Orthologs for CECR5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CECR5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CECR5 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia CECR5 34 35
  • 84.94 (n)
cow
(Bos Taurus)
Mammalia CECR5 34 35
  • 79.82 (n)
mouse
(Mus musculus)
Mammalia Cecr5 34 16 35
  • 79.79 (n)
rat
(Rattus norvegicus)
Mammalia Cecr5 34
  • 79.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 64 (a)
OneToMany
-- 35
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves CECR5 34 35
  • 67.66 (n)
lizard
(Anolis carolinensis)
Reptilia CECR5 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr5 34
  • 62.81 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:175154 34
  • 62.22 (n)
CECR5 35
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea H32C10.1 36 34 35
  • 50.64 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR297C 34
  • 47.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16192g 34
  • 43.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKR070W 34
  • 42.29 (n)
-- 35
  • 28 (a)
OneToOne
-- 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45740 34
  • 42.42 (n)
rice
(Oryza sativa)
Liliopsida Os03g0284500 34
  • 44.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03173 34
  • 49.95 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11053 35
  • 40 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3679 34
Species where no ortholog for CECR5 was found in the sources mined by GeneCards:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CECR5 Gene

ENSEMBL:
Gene Tree for CECR5 (if available)
TreeFam:
Gene Tree for CECR5 (if available)

Paralogs for CECR5 Gene

No data available for Paralogs for CECR5 Gene

Variants for CECR5 Gene

Sequence variations from dbSNP and Humsavar for CECR5 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1005325 -- 17,153,821(+) ATAGA(C/T)ACTTC intron-variant
rs1005326 -- 17,154,081(+) ggtct(C/T)caact intron-variant
rs1005327 -- 17,154,082(+) gtctc(C/G)aactc intron-variant
rs1034858 -- 17,149,499(+) ATTAG(C/G)AACCA intron-variant
rs1034859 -- 17,149,596(+) ATGTT(A/C)CCAGC intron-variant, nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CECR5 Gene

Variant ID Type Subtype PubMed ID
nsv828924 CNV gain 20364138
nsv526946 CNV loss 19592680
nsv509805 CNV insertion 20534489
nsv1067241 CNV loss 25217958
nsv1064641 CNV gain 25217958
esv3647209 CNV gain 21293372
esv3647208 CNV gain 21293372
esv29321 CNV gain 19812545
esv1195567 CNV deletion 17803354
esv1006805 CNV deletion 20482838

Variation tolerance for CECR5 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.20; 76.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CECR5 Gene

Human Gene Mutation Database (HGMD)
CECR5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CECR5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CECR5 Gene

Disorders for CECR5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CECR5 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cat eye syndrome
  • ces
- elite association - COSMIC cancer census association via MalaCards
Search CECR5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CECR5

Genetic Association Database (GAD)
CECR5
Human Genome Epidemiology (HuGE) Navigator
CECR5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CECR5
genes like me logo Genes that share disorders with CECR5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CECR5 Gene

Publications for CECR5 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. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64

Products for CECR5 Gene

Sources for CECR5 Gene

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