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SEC23B (Sec23 homolog B, coat complex II component)

Identity

Alias_namesCDAN2
Sec23 (S. cerevisiae) homolog B
congenital dyserythropoietic anemia, type II
Sec23 homolog B (S. cerevisiae)
Sec23 homolog B, COPII coat complex component
Alias_symbol (synonym)CDA-II
CDAII
HEMPAS
Other aliasCWS7
hSec23B
HGNC (Hugo) SEC23B
LocusID (NCBI) 10483
Atlas_Id 55636
Location 20p11.23  [Link to chromosome band 20p11]
Location_base_pair Starts at 18507482 and ends at 18561415 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MRPS25 (3p25.1) / SEC23B (20p11.23)SEC23B (20p11.23) / PLEKHM3 (2q33.3)SEC23B (20p11.23) / SEC23B (20p11.23)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;20)(q33;p11) SEC23B/PLEKHM3


External links

Nomenclature
HGNC (Hugo)SEC23B   10702
LRG (Locus Reference Genomic)LRG_1134
Cards
Entrez_Gene (NCBI)SEC23B  10483  Sec23 homolog B, coat complex II component
AliasesCDA-II; CDAII; CDAN2; CWS7; 
HEMPAS; hSec23B
GeneCards (Weizmann)SEC23B
Ensembl hg19 (Hinxton)ENSG00000101310 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101310 [Gene_View]  ENSG00000101310 [Sequence]  chr20:18507482-18561415 [Contig_View]  SEC23B [Vega]
ICGC DataPortalENSG00000101310
TCGA cBioPortalSEC23B
AceView (NCBI)SEC23B
Genatlas (Paris)SEC23B
WikiGenes10483
SOURCE (Princeton)SEC23B
Genetics Home Reference (NIH)SEC23B
Genomic and cartography
GoldenPath hg38 (UCSC)SEC23B  -     chr20:18507482-18561415 +  20p11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEC23B  -     20p11.23   [Description]    (hg19-Feb_2009)
EnsemblSEC23B - 20p11.23 [CytoView hg19]  SEC23B - 20p11.23 [CytoView hg38]
Mapping of homologs : NCBISEC23B [Mapview hg19]  SEC23B [Mapview hg38]
OMIM224100   610512   616858   
Gene and transcription
Genbank (Entrez)AK296270 AK299171 AK299513 AL540773 BC001151
RefSeq transcript (Entrez)NM_001172745 NM_001172746 NM_006363 NM_032985 NM_032986
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEC23B
Cluster EST : UnigeneHs.369373 [ NCBI ]
CGAP (NCI)Hs.369373
Alternative Splicing GalleryENSG00000101310
Gene ExpressionSEC23B [ NCBI-GEO ]   SEC23B [ EBI - ARRAY_EXPRESS ]   SEC23B [ SEEK ]   SEC23B [ MEM ]
Gene Expression Viewer (FireBrowse)SEC23B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10483
GTEX Portal (Tissue expression)SEC23B
Human Protein AtlasENSG00000101310-SEC23B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15437   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15437  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15437
Splice isoforms : SwissVarQ15437
PhosPhoSitePlusQ15437
Domains : Interpro (EBI)ADF-H/Gelsolin-like_dom    Gelsolin-like_dom    Sec23/24_helical_dom    Sec23/24_trunk_dom    Sec23_24_beta_S    VWF_A    Znf_Sec23_Sec24   
Domain families : Pfam (Sanger)Gelsolin (PF00626)    Sec23_BS (PF08033)    Sec23_helical (PF04815)    Sec23_trunk (PF04811)    zf-Sec23_Sec24 (PF04810)   
Domain families : Pfam (NCBI)pfam00626    pfam08033    pfam04815    pfam04811    pfam04810   
Conserved Domain (NCBI)SEC23B
DMDM Disease mutations10483
Blocks (Seattle)SEC23B
SuperfamilyQ15437
Human Protein Atlas [tissue]ENSG00000101310-SEC23B [tissue]
Peptide AtlasQ15437
HPRD11543
IPIIPI00017376   IPI00478968   IPI00956024   IPI00642931   
Protein Interaction databases
DIP (DOE-UCLA)Q15437
IntAct (EBI)Q15437
FunCoupENSG00000101310
BioGRIDSEC23B
STRING (EMBL)SEC23B
ZODIACSEC23B
Ontologies - Pathways
QuickGOQ15437
Ontology : AmiGOGolgi membrane  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  intracellular protein transport  zinc ion binding  endomembrane system  COPII vesicle coat  perinuclear region of cytoplasm  COPII-coated vesicle budding  
Ontology : EGO-EBIGolgi membrane  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  intracellular protein transport  zinc ion binding  endomembrane system  COPII vesicle coat  perinuclear region of cytoplasm  COPII-coated vesicle budding  
NDEx NetworkSEC23B
Atlas of Cancer Signalling NetworkSEC23B
Wikipedia pathwaysSEC23B
Orthology - Evolution
OrthoDB10483
GeneTree (enSembl)ENSG00000101310
Phylogenetic Trees/Animal Genes : TreeFamSEC23B
HOVERGENQ15437
HOGENOMQ15437
Homologs : HomoloGeneSEC23B
Homology/Alignments : Family Browser (UCSC)SEC23B
Gene fusions - Rearrangements
Fusion : QuiverSEC23B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEC23B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEC23B
dbVarSEC23B
ClinVarSEC23B
1000_GenomesSEC23B 
Exome Variant ServerSEC23B
ExAC (Exome Aggregation Consortium)ENSG00000101310
GNOMAD BrowserENSG00000101310
Genetic variants : HAPMAP10483
Genomic Variants (DGV)SEC23B [DGVbeta]
DECIPHERSEC23B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEC23B 
Mutations
ICGC Data PortalSEC23B 
TCGA Data PortalSEC23B 
Broad Tumor PortalSEC23B
OASIS PortalSEC23B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEC23B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSEC23B
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch SEC23B
DgiDB (Drug Gene Interaction Database)SEC23B
DoCM (Curated mutations)SEC23B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEC23B (select a term)
intoGenSEC23B
Cancer3DSEC23B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM224100    610512    616858   
Orphanet243    13890   
DisGeNETSEC23B
MedgenSEC23B
Genetic Testing Registry SEC23B
NextProtQ15437 [Medical]
TSGene10483
GENETestsSEC23B
Target ValidationSEC23B
Huge Navigator SEC23B [HugePedia]
snp3D : Map Gene to Disease10483
BioCentury BCIQSEC23B
ClinGenSEC23B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10483
Chemical/Pharm GKB GenePA35625
Clinical trialSEC23B
Miscellaneous
canSAR (ICR)SEC23B (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEC23B
EVEXSEC23B
GoPubMedSEC23B
iHOPSEC23B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:48:48 CEST 2018

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