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SHLD2 (shieldin complex subunit 2)

Identity

Other aliasFAM35A
FAM35A1
RINN2
bA163M19.1
HGNC (Hugo) SHLD2
LocusID (NCBI) 54537
Atlas_Id 57453
Location 10q23.2  [Link to chromosome band 10q23]
Location_base_pair Starts at 87095196 and ends at 87191465 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)
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


External links

Nomenclature
HGNC (Hugo)SHLD2   28773
Cards
Entrez_Gene (NCBI)SHLD2  54537  shieldin complex subunit 2
AliasesFAM35A; FAM35A1; RINN2; bA163M19.1
GeneCards (Weizmann)SHLD2
Ensembl hg19 (Hinxton)ENSG00000122376 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122376 [Gene_View]  ENSG00000122376 [Sequence]  chr10:87095196-87191465 [Contig_View]  SHLD2 [Vega]
ICGC DataPortalENSG00000122376
TCGA cBioPortalSHLD2
AceView (NCBI)SHLD2
Genatlas (Paris)SHLD2
WikiGenes54537
SOURCE (Princeton)SHLD2
Genetics Home Reference (NIH)SHLD2
Genomic and cartography
GoldenPath hg38 (UCSC)SHLD2  -     chr10:87095196-87191465 +  10q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHLD2  -     10q23.2   [Description]    (hg19-Feb_2009)
EnsemblSHLD2 - 10q23.2 [CytoView hg19]  SHLD2 - 10q23.2 [CytoView hg38]
Mapping of homologs : NCBISHLD2 [Mapview hg19]  SHLD2 [Mapview hg38]
OMIM618029   
Gene and transcription
Genbank (Entrez)AF131775 AK022978 AK025471 AK025606 BC051863
RefSeq transcript (Entrez)NM_001330112 NM_019054
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHLD2
Cluster EST : UnigeneHs.500419 [ NCBI ]
CGAP (NCI)Hs.500419
Alternative Splicing GalleryENSG00000122376
Gene ExpressionSHLD2 [ NCBI-GEO ]   SHLD2 [ EBI - ARRAY_EXPRESS ]   SHLD2 [ SEEK ]   SHLD2 [ MEM ]
Gene Expression Viewer (FireBrowse)SHLD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54537
GTEX Portal (Tissue expression)SHLD2
Human Protein AtlasENSG00000122376-SHLD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86V20   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86V20  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86V20
Splice isoforms : SwissVarQ86V20
PhosPhoSitePlusQ86V20
Domains : Interpro (EBI)FAM35A    FAM35A_C   
Domain families : Pfam (Sanger)FAM35_C (PF15793)   
Domain families : Pfam (NCBI)pfam15793   
Conserved Domain (NCBI)SHLD2
DMDM Disease mutations54537
Blocks (Seattle)SHLD2
SuperfamilyQ86V20
Human Protein Atlas [tissue]ENSG00000122376-SHLD2 [tissue]
Peptide AtlasQ86V20
IPIIPI00005094   IPI00655589   IPI01019000   
Protein Interaction databases
DIP (DOE-UCLA)Q86V20
IntAct (EBI)Q86V20
FunCoupENSG00000122376
BioGRIDSHLD2
STRING (EMBL)SHLD2
ZODIACSHLD2
Ontologies - Pathways
QuickGOQ86V20
Ontology : AmiGOprotein binding  nucleus  chromosome  DNA repair  site of double-strand break  positive regulation of isotype switching  negative regulation of double-strand break repair via homologous recombination  positive regulation of double-strand break repair via nonhomologous end joining  
Ontology : EGO-EBIprotein binding  nucleus  chromosome  DNA repair  site of double-strand break  positive regulation of isotype switching  negative regulation of double-strand break repair via homologous recombination  positive regulation of double-strand break repair via nonhomologous end joining  
NDEx NetworkSHLD2
Atlas of Cancer Signalling NetworkSHLD2
Wikipedia pathwaysSHLD2
Orthology - Evolution
OrthoDB54537
GeneTree (enSembl)ENSG00000122376
Phylogenetic Trees/Animal Genes : TreeFamSHLD2
HOVERGENQ86V20
HOGENOMQ86V20
Homologs : HomoloGeneSHLD2
Homology/Alignments : Family Browser (UCSC)SHLD2
Gene fusions - Rearrangements
Fusion : QuiverSHLD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHLD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHLD2
dbVarSHLD2
ClinVarSHLD2
1000_GenomesSHLD2 
Exome Variant ServerSHLD2
ExAC (Exome Aggregation Consortium)ENSG00000122376
GNOMAD BrowserENSG00000122376
Varsome BrowserSHLD2
Genetic variants : HAPMAP54537
Genomic Variants (DGV)SHLD2 [DGVbeta]
DECIPHERSHLD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHLD2 
Mutations
ICGC Data PortalSHLD2 
TCGA Data PortalSHLD2 
Broad Tumor PortalSHLD2
OASIS PortalSHLD2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSHLD2
BioMutasearch SHLD2
DgiDB (Drug Gene Interaction Database)SHLD2
DoCM (Curated mutations)SHLD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHLD2 (select a term)
intoGenSHLD2
Cancer3DSHLD2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618029   
Orphanet
DisGeNETSHLD2
MedgenSHLD2
Genetic Testing Registry SHLD2
NextProtQ86V20 [Medical]
TSGene54537
GENETestsSHLD2
Target ValidationSHLD2
Huge Navigator SHLD2 [HugePedia]
snp3D : Map Gene to Disease54537
BioCentury BCIQSHLD2
ClinGenSHLD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54537
Chemical/Pharm GKB GenePA134926879
Clinical trialSHLD2
Miscellaneous
canSAR (ICR)SHLD2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHLD2
EVEXSHLD2
GoPubMedSHLD2
iHOPSHLD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:38:58 CET 2018

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