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KDELC2 (KDEL motif containing 2)

Identity

Alias_namesKDEL (Lys-Asp-Glu-Leu) containing 2
Alias_symbol (synonym)MGC33424
Other alias-
HGNC (Hugo) KDELC2
LocusID (NCBI) 143888
Atlas_Id 64832
Location 11q22.3  [Link to chromosome band 11q22]
Location_base_pair Starts at 108472106 and ends at 108498432 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)
DSCAML1 (11q23.3) / KDELC2 (11q22.3)

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)KDELC2   28496
Cards
Entrez_Gene (NCBI)KDELC2  143888  KDEL motif containing 2
Aliases
GeneCards (Weizmann)KDELC2
Ensembl hg19 (Hinxton)ENSG00000178202 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178202 [Gene_View]  chr11:108472106-108498432 [Contig_View]  KDELC2 [Vega]
ICGC DataPortalENSG00000178202
TCGA cBioPortalKDELC2
AceView (NCBI)KDELC2
Genatlas (Paris)KDELC2
WikiGenes143888
SOURCE (Princeton)KDELC2
Genetics Home Reference (NIH)KDELC2
Genomic and cartography
GoldenPath hg38 (UCSC)KDELC2  -     chr11:108472106-108498432 -  11q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KDELC2  -     11q22.3   [Description]    (hg19-Feb_2009)
EnsemblKDELC2 - 11q22.3 [CytoView hg19]  KDELC2 - 11q22.3 [CytoView hg38]
Mapping of homologs : NCBIKDELC2 [Mapview hg19]  KDELC2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF533708 AI628702 AK098206 AK123743 AK125519
RefSeq transcript (Entrez)NM_153705
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KDELC2
Cluster EST : UnigeneHs.83286 [ NCBI ]
CGAP (NCI)Hs.83286
Alternative Splicing GalleryENSG00000178202
Gene ExpressionKDELC2 [ NCBI-GEO ]   KDELC2 [ EBI - ARRAY_EXPRESS ]   KDELC2 [ SEEK ]   KDELC2 [ MEM ]
Gene Expression Viewer (FireBrowse)KDELC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)143888
GTEX Portal (Tissue expression)KDELC2
Human Protein AtlasENSG00000178202-KDELC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z4H8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z4H8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z4H8
Splice isoforms : SwissVarQ7Z4H8
PhosPhoSitePlusQ7Z4H8
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    FILAMIN_REPEAT (PS50194)   
Domains : Interpro (EBI)Filamin/ABP280_repeat-like    Filamin/ABP280_rpt    Ig-like_fold    Ig_E-set    LipoPS_modifying   
Domain families : Pfam (Sanger)Filamin (PF00630)    Glyco_transf_90 (PF05686)   
Domain families : Pfam (NCBI)pfam00630    pfam05686   
Domain families : Smart (EMBL)CAP10 (SM00672)  IG_FLMN (SM00557)  
Conserved Domain (NCBI)KDELC2
DMDM Disease mutations143888
Blocks (Seattle)KDELC2
SuperfamilyQ7Z4H8
Human Protein Atlas [tissue]ENSG00000178202-KDELC2 [tissue]
Peptide AtlasQ7Z4H8
HPRD13773
IPIIPI00143921   IPI00783221   IPI00445699   IPI00985428   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z4H8
IntAct (EBI)Q7Z4H8
FunCoupENSG00000178202
BioGRIDKDELC2
STRING (EMBL)KDELC2
ZODIACKDELC2
Ontologies - Pathways
QuickGOQ7Z4H8
Ontology : AmiGOmolecular_function  cellular_component  endoplasmic reticulum lumen  glycolipid metabolic process  biological_process  glucosyltransferase activity  
Ontology : EGO-EBImolecular_function  cellular_component  endoplasmic reticulum lumen  glycolipid metabolic process  biological_process  glucosyltransferase activity  
NDEx NetworkKDELC2
Atlas of Cancer Signalling NetworkKDELC2
Wikipedia pathwaysKDELC2
Orthology - Evolution
OrthoDB143888
GeneTree (enSembl)ENSG00000178202
Phylogenetic Trees/Animal Genes : TreeFamKDELC2
HOVERGENQ7Z4H8
HOGENOMQ7Z4H8
Homologs : HomoloGeneKDELC2
Homology/Alignments : Family Browser (UCSC)KDELC2
Gene fusions - Rearrangements
Tumor Fusion PortalKDELC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKDELC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KDELC2
dbVarKDELC2
ClinVarKDELC2
1000_GenomesKDELC2 
Exome Variant ServerKDELC2
ExAC (Exome Aggregation Consortium)ENSG00000178202
GNOMAD BrowserENSG00000178202
Genetic variants : HAPMAP143888
Genomic Variants (DGV)KDELC2 [DGVbeta]
DECIPHERKDELC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKDELC2 
Mutations
ICGC Data PortalKDELC2 
TCGA Data PortalKDELC2 
Broad Tumor PortalKDELC2
OASIS PortalKDELC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKDELC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKDELC2
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 KDELC2
DgiDB (Drug Gene Interaction Database)KDELC2
DoCM (Curated mutations)KDELC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KDELC2 (select a term)
intoGenKDELC2
Cancer3DKDELC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETKDELC2
MedgenKDELC2
Genetic Testing Registry KDELC2
NextProtQ7Z4H8 [Medical]
TSGene143888
GENETestsKDELC2
Target ValidationKDELC2
Huge Navigator KDELC2 [HugePedia]
snp3D : Map Gene to Disease143888
BioCentury BCIQKDELC2
ClinGenKDELC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD143888
Chemical/Pharm GKB GenePA134904072
Clinical trialKDELC2
Miscellaneous
canSAR (ICR)KDELC2 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKDELC2
EVEXKDELC2
GoPubMedKDELC2
iHOPKDELC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:23:37 CET 2017

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