Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYB5D2 (cytochrome b5 domain containing 2)

Identity

Alias_symbol (synonym)MGC32124
Other alias-
HGNC (Hugo) CYB5D2
LocusID (NCBI) 124936
Atlas_Id 54245
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 4046915 and ends at 4060995 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CYB5D2 (17p13.2) / ANKFY1 (17p13.2)CYB5D2 (17p13.2) / CYB5D2 (17p13.2)CYB5D2 (17p13.2) / HSPA5 (9q33.3)
GIT1 (17q11.2) / CYB5D2 (17p13.2)

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)CYB5D2   28471
Cards
Entrez_Gene (NCBI)CYB5D2  124936  cytochrome b5 domain containing 2
Aliases
GeneCards (Weizmann)CYB5D2
Ensembl hg19 (Hinxton)ENSG00000167740 [Gene_View]  chr17:4046915-4060995 [Contig_View]  CYB5D2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167740 [Gene_View]  chr17:4046915-4060995 [Contig_View]  CYB5D2 [Vega]
ICGC DataPortalENSG00000167740
TCGA cBioPortalCYB5D2
AceView (NCBI)CYB5D2
Genatlas (Paris)CYB5D2
WikiGenes124936
SOURCE (Princeton)CYB5D2
Genetics Home Reference (NIH)CYB5D2
Genomic and cartography
GoldenPath hg19 (UCSC)CYB5D2  -     chr17:4046915-4060995 +  17p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CYB5D2  -     17p13.2   [Description]    (hg38-Dec_2013)
EnsemblCYB5D2 - 17p13.2 [CytoView hg19]  CYB5D2 - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBICYB5D2 [Mapview hg19]  CYB5D2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA479992 AK172844 AK313088 BC020263 BC051697
RefSeq transcript (Entrez)NM_001254755 NM_001254756 NM_144611
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)CYB5D2
Cluster EST : UnigeneHs.513871 [ NCBI ]
CGAP (NCI)Hs.513871
Alternative Splicing GalleryENSG00000167740
Gene ExpressionCYB5D2 [ NCBI-GEO ]   CYB5D2 [ EBI - ARRAY_EXPRESS ]   CYB5D2 [ SEEK ]   CYB5D2 [ MEM ]
Gene Expression Viewer (FireBrowse)CYB5D2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124936
GTEX Portal (Tissue expression)CYB5D2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WUJ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WUJ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WUJ1
Splice isoforms : SwissVarQ8WUJ1
PhosPhoSitePlusQ8WUJ1
Domains : Interpro (EBI)Cyt_B5-like_heme/steroid-bd   
Domain families : Pfam (Sanger)Cyt-b5 (PF00173)   
Domain families : Pfam (NCBI)pfam00173   
Conserved Domain (NCBI)CYB5D2
DMDM Disease mutations124936
Blocks (Seattle)CYB5D2
SuperfamilyQ8WUJ1
Human Protein AtlasENSG00000167740
Peptide AtlasQ8WUJ1
HPRD14549
IPIIPI00102928   
Protein Interaction databases
DIP (DOE-UCLA)Q8WUJ1
IntAct (EBI)Q8WUJ1
FunCoupENSG00000167740
BioGRIDCYB5D2
STRING (EMBL)CYB5D2
ZODIACCYB5D2
Ontologies - Pathways
QuickGOQ8WUJ1
Ontology : AmiGOextracellular region  endomembrane system  membrane  heme binding  positive regulation of neuron differentiation  
Ontology : EGO-EBIextracellular region  endomembrane system  membrane  heme binding  positive regulation of neuron differentiation  
NDEx NetworkCYB5D2
Atlas of Cancer Signalling NetworkCYB5D2
Wikipedia pathwaysCYB5D2
Orthology - Evolution
OrthoDB124936
GeneTree (enSembl)ENSG00000167740
Phylogenetic Trees/Animal Genes : TreeFamCYB5D2
HOVERGENQ8WUJ1
HOGENOMQ8WUJ1
Homologs : HomoloGeneCYB5D2
Homology/Alignments : Family Browser (UCSC)CYB5D2
Gene fusions - Rearrangements
Fusion : MitelmanCYB5D2/ANKFY1 [17p13.2/17p13.2]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYB5D2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYB5D2
dbVarCYB5D2
ClinVarCYB5D2
1000_GenomesCYB5D2 
Exome Variant ServerCYB5D2
ExAC (Exome Aggregation Consortium)CYB5D2 (select the gene name)
Genetic variants : HAPMAP124936
Genomic Variants (DGV)CYB5D2 [DGVbeta]
DECIPHER (Syndromes)17:4046915-4060995  ENSG00000167740
CONAN: Copy Number AnalysisCYB5D2 
Mutations
ICGC Data PortalCYB5D2 
TCGA Data PortalCYB5D2 
Broad Tumor PortalCYB5D2
OASIS PortalCYB5D2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYB5D2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYB5D2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CYB5D2
DgiDB (Drug Gene Interaction Database)CYB5D2
DoCM (Curated mutations)CYB5D2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYB5D2 (select a term)
intoGenCYB5D2
Cancer3DCYB5D2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCYB5D2
Genetic Testing Registry CYB5D2
NextProtQ8WUJ1 [Medical]
TSGene124936
GENETestsCYB5D2
Huge Navigator CYB5D2 [HugePedia]
snp3D : Map Gene to Disease124936
BioCentury BCIQCYB5D2
ClinGenCYB5D2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD124936
Chemical/Pharm GKB GenePA142672059
Clinical trialCYB5D2
Miscellaneous
canSAR (ICR)CYB5D2 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYB5D2
EVEXCYB5D2
GoPubMedCYB5D2
iHOPCYB5D2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:58:10 CEST 2017

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