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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. EVC2, Ellis van Creveld syndrome 2
Sequence ID:NM_001166136
NM_147127
RefSeqGene ID:NG_015821
Entrez Gene ID:132884
Ensembl ID:ENSG00000173040

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
ELLIS-VAN CREVELD SYNDROMEEVC
EVC

Cytogenetic Location (from UniGene)

Cytogenetic Location:4p16.2-p16.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:4: 5564574 - 5699362

 Exon Info From UCSC:
NM_001166136
NM_147127

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
40080660BC111455Ellis van Creveld syndrome 2

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001166136 NP_001159608    
NM_147127 NP_667338 Q86UK5  

Related Sequences

 
mRNAGenPeptSwissProt
BC111455 AAI11456  
AY152402 AAN86577 Q86UK5
AY152403 AAN86578 Q86UK5
AY185210 AAO22066 Q86UK5
AB083067 BAC06590 Q86UK5

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens EVC2 NP_667338 R.norvegicus Evc2 289711   NP_001099482 74
M.musculus Evc2 68525 Gene Info NP_666032 72

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)