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C2orf88 (chromosome 2 open reading frame 88)

Identity

Alias_symbol (synonym)MGC13057
smAKAP
Other alias
HGNC (Hugo) C2orf88
LocusID (NCBI) 84281
Atlas_Id 61172
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 190180863 and ends at 190203484 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MFSD6 (2q32.2) / C2orf88 (2q32.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)C2orf88   28191
Cards
Entrez_Gene (NCBI)C2orf88  84281  chromosome 2 open reading frame 88
AliasessmAKAP
GeneCards (Weizmann)C2orf88
Ensembl hg19 (Hinxton)ENSG00000187699 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187699 [Gene_View]  chr2:190180863-190203484 [Contig_View]  C2orf88 [Vega]
ICGC DataPortalENSG00000187699
TCGA cBioPortalC2orf88
AceView (NCBI)C2orf88
Genatlas (Paris)C2orf88
WikiGenes84281
SOURCE (Princeton)C2orf88
Genetics Home Reference (NIH)C2orf88
Genomic and cartography
GoldenPath hg38 (UCSC)C2orf88  -     chr2:190180863-190203484 +  2q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C2orf88  -     2q32.2   [Description]    (hg19-Feb_2009)
EnsemblC2orf88 - 2q32.2 [CytoView hg19]  C2orf88 - 2q32.2 [CytoView hg38]
Mapping of homologs : NCBIC2orf88 [Mapview hg19]  C2orf88 [Mapview hg38]
OMIM615117   
Gene and transcription
Genbank (Entrez)AK075168 AK313395 BC005083 BU567236 BX648070
RefSeq transcript (Entrez)NM_001042519 NM_001042520 NM_001042521 NM_032321
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C2orf88
Cluster EST : UnigeneHs.389311 [ NCBI ]
CGAP (NCI)Hs.389311
Alternative Splicing GalleryENSG00000187699
Gene ExpressionC2orf88 [ NCBI-GEO ]   C2orf88 [ EBI - ARRAY_EXPRESS ]   C2orf88 [ SEEK ]   C2orf88 [ MEM ]
Gene Expression Viewer (FireBrowse)C2orf88 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84281
GTEX Portal (Tissue expression)C2orf88
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BSF0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BSF0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BSF0
Splice isoforms : SwissVarQ9BSF0
PhosPhoSitePlusQ9BSF0
Domains : Interpro (EBI)Small_membr_AKAP   
Domain families : Pfam (Sanger)SmAKAP (PF15127)   
Domain families : Pfam (NCBI)pfam15127   
Conserved Domain (NCBI)C2orf88
DMDM Disease mutations84281
Blocks (Seattle)C2orf88
PDB (SRS)5HVZ   
PDB (PDBSum)5HVZ   
PDB (IMB)5HVZ   
PDB (RSDB)5HVZ   
Structural Biology KnowledgeBase5HVZ   
SCOP (Structural Classification of Proteins)5HVZ   
CATH (Classification of proteins structures)5HVZ   
SuperfamilyQ9BSF0
Human Protein AtlasENSG00000187699
Peptide AtlasQ9BSF0
HPRD14436
IPIIPI00168343   IPI00031140   IPI00917795   IPI00917574   
Protein Interaction databases
DIP (DOE-UCLA)Q9BSF0
IntAct (EBI)Q9BSF0
FunCoupENSG00000187699
BioGRIDC2orf88
STRING (EMBL)C2orf88
ZODIACC2orf88
Ontologies - Pathways
QuickGOQ9BSF0
Ontology : AmiGOprotein binding  plasma membrane  protein kinase A regulatory subunit binding  
Ontology : EGO-EBIprotein binding  plasma membrane  protein kinase A regulatory subunit binding  
NDEx NetworkC2orf88
Atlas of Cancer Signalling NetworkC2orf88
Wikipedia pathwaysC2orf88
Orthology - Evolution
OrthoDB84281
GeneTree (enSembl)ENSG00000187699
Phylogenetic Trees/Animal Genes : TreeFamC2orf88
HOVERGENQ9BSF0
HOGENOMQ9BSF0
Homologs : HomoloGeneC2orf88
Homology/Alignments : Family Browser (UCSC)C2orf88
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC2orf88 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C2orf88
dbVarC2orf88
ClinVarC2orf88
1000_GenomesC2orf88 
Exome Variant ServerC2orf88
ExAC (Exome Aggregation Consortium)C2orf88 (select the gene name)
Genetic variants : HAPMAP84281
Genomic Variants (DGV)C2orf88 [DGVbeta]
DECIPHERC2orf88 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC2orf88 
Mutations
ICGC Data PortalC2orf88 
TCGA Data PortalC2orf88 
Broad Tumor PortalC2orf88
OASIS PortalC2orf88 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC2orf88  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC2orf88
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch C2orf88
DgiDB (Drug Gene Interaction Database)C2orf88
DoCM (Curated mutations)C2orf88 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C2orf88 (select a term)
intoGenC2orf88
Cancer3DC2orf88(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615117   
Orphanet
MedgenC2orf88
Genetic Testing Registry C2orf88
NextProtQ9BSF0 [Medical]
TSGene84281
GENETestsC2orf88
Target ValidationC2orf88
Huge Navigator C2orf88 [HugePedia]
snp3D : Map Gene to Disease84281
BioCentury BCIQC2orf88
ClinGenC2orf88
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84281
Chemical/Pharm GKB GenePA164717227
Clinical trialC2orf88
Miscellaneous
canSAR (ICR)C2orf88 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC2orf88
EVEXC2orf88
GoPubMedC2orf88
iHOPC2orf88
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:41:12 CEST 2017

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