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Aliases for CECR5 Gene

Aliases for CECR5 Gene

  • Cat Eye Syndrome Chromosome Region, Candidate 5 2 3

External Ids for CECR5 Gene

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

Genomic Location for CECR5 Gene

Start:
17,137,510 bp from pter
End:
17,165,287 bp from pter
Size:
27,778 bases
Orientation:
Minus strand

Genomic View for CECR5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CECR5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CECR5 Gene

Regulatory Elements 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

Proteomics data for CECR5 Gene at MOPED

Post-translational modifications for CECR5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CECR5 Gene

No data available for DME Specific Peptides for CECR5 Gene

Domains for CECR5 Gene

Protein Domains for CECR5 Gene

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

miRNA for CECR5 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for CECR5 Gene

Localization for CECR5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CECR5 Gene COMPARTMENTS Subcellular localization image for CECR5 gene
Compartment Confidence
mitochondrion 3
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 IEA --
genes like me logo Genes that share ontologies with CECR5: view

Pathways for CECR5 Gene

SuperPathways for CECR5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CECR5 Gene

None

No data available for Pathways by source for CECR5 Gene

Transcripts for CECR5 Gene

Unigene Clusters for CECR5 Gene

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

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 for CECR5 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CECR5 Gene

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 expressions with CECR5: view

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 36
  • 99.45 (n)
  • 99.53 (a)
CECR5 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CECR5 36
  • 79.82 (n)
  • 77.47 (a)
CECR5 37
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CECR5 36
  • 84.94 (n)
  • 84.16 (a)
CECR5 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cecr5 36
  • 79.79 (n)
  • 76.61 (a)
Cecr5 16
Cecr5 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 60 (a)
OneToMany
-- 37
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cecr5 36
  • 79.63 (n)
  • 74.22 (a)
chicken
(Gallus gallus)
Aves CECR5 36
  • 67.66 (n)
  • 65.76 (a)
CECR5 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CECR5 37
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr5 36
  • 62.81 (n)
  • 60.05 (a)
zebrafish
(Danio rerio)
Actinopterygii CECR5 37
  • 50 (a)
OneToOne
zgc:175154 36
  • 62.22 (n)
  • 56.3 (a)
worm
(Caenorhabditis elegans)
Secernentea H32C10.1 36
  • 50.64 (n)
  • 44.87 (a)
H32C10.1 37
  • 33 (a)
OneToOne
H32C10.1 38
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR297C 36
  • 47.71 (n)
  • 33.46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 28 (a)
OneToOne
-- 39
YKR070W 36
  • 42.29 (n)
  • 33.21 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16192g 36
  • 43.47 (n)
  • 35.36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45740 36
  • 42.42 (n)
  • 34.85 (a)
rice
(Oryza sativa)
Liliopsida Os03g0284500 36
  • 44.41 (n)
  • 34.53 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03173 36
  • 49.95 (n)
  • 38.02 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3679 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11053 37
  • 40 (a)
OneToOne
Species with no ortholog for CECR5:
  • 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 MAF
rs149210 -- 17,146,949(+) CCTTC(A/G)ATCAC intron-variant
rs149211 -- 17,146,524(+) ACACA(C/T)CATCG intron-variant
rs149212 -- 17,146,631(+) CTTAC(A/C)GGCCT intron-variant
rs174778 -- 17,146,475(+) CACGC(C/T)CCACA intron-variant
rs174779 -- 17,146,487(+) CTGTG(A/G)CGCCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv509805 CNV Insertion 20534489
nsv828924 CNV Gain 20364138
nsv526946 CNV Loss 19592680
esv1006805 CNV Deletion 20482838
esv29321 CNV Gain 19812545
esv1195567 CNV Deletion 17803354

Relevant External Links for CECR5 Gene

HapMap Linkage Disequilibrium report
CECR5
Human Gene Mutation Database (HGMD)
CECR5

Disorders for CECR5 Gene

(1) MalaCards Diseases for CECR5 Gene

Search for CECR5 Gene in MalaCards »

Relevant External Links for CECR5

Genetic Association Database (GAD)
CECR5
Human Genome Epidemiology (HuGE) Navigator
CECR5
genes like me logo Genes that share disorders with CECR5: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3

Products for CECR5 Gene

Sources for CECR5 Gene

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