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SPRR2E (small proline rich protein 2E)

Identity

Alias_namessmall proline-rich protein 2E
Other alias-
HGNC (Hugo) SPRR2E
LocusID (NCBI) 6704
Atlas_Id 74207
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 153093135 and ends at 153094528 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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SPRR2E   11265
Cards
Entrez_Gene (NCBI)SPRR2E  6704  small proline rich protein 2E
Aliases
GeneCards (Weizmann)SPRR2E
Ensembl hg19 (Hinxton)ENSG00000203785 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203785 [Gene_View]  chr1:153093135-153094528 [Contig_View]  SPRR2E [Vega]
ICGC DataPortalENSG00000203785
TCGA cBioPortalSPRR2E
AceView (NCBI)SPRR2E
Genatlas (Paris)SPRR2E
WikiGenes6704
SOURCE (Princeton)SPRR2E
Genetics Home Reference (NIH)SPRR2E
Genomic and cartography
GoldenPath hg38 (UCSC)SPRR2E  -     chr1:153093135-153094528 -  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPRR2E  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblSPRR2E - 1q21.3 [CytoView hg19]  SPRR2E - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBISPRR2E [Mapview hg19]  SPRR2E [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC058018 BC148548 BC153136 BE714447 BG185829
RefSeq transcript (Entrez)NM_001024209
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPRR2E
Cluster EST : UnigeneHs.568518 [ NCBI ]
CGAP (NCI)Hs.568518
Alternative Splicing GalleryENSG00000203785
Gene ExpressionSPRR2E [ NCBI-GEO ]   SPRR2E [ EBI - ARRAY_EXPRESS ]   SPRR2E [ SEEK ]   SPRR2E [ MEM ]
Gene Expression Viewer (FireBrowse)SPRR2E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6704
GTEX Portal (Tissue expression)SPRR2E
Human Protein AtlasENSG00000203785-SPRR2E [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22531   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22531  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22531
Splice isoforms : SwissVarP22531
PhosPhoSitePlusP22531
Domains : Interpro (EBI)SPRR/LCE    SPRR2   
Domain families : Pfam (Sanger)SPRR2 (PF14820)   
Domain families : Pfam (NCBI)pfam14820   
Conserved Domain (NCBI)SPRR2E
DMDM Disease mutations6704
Blocks (Seattle)SPRR2E
SuperfamilyP22531
Human Protein Atlas [tissue]ENSG00000203785-SPRR2E [tissue]
Peptide AtlasP22531
IPIIPI00386597   
Protein Interaction databases
DIP (DOE-UCLA)P22531
IntAct (EBI)P22531
FunCoupENSG00000203785
BioGRIDSPRR2E
STRING (EMBL)SPRR2E
ZODIACSPRR2E
Ontologies - Pathways
QuickGOP22531
Ontology : AmiGOcornified envelope  cornified envelope  cornified envelope  structural molecule activity  protein binding  cytoplasm  cytosol  epidermis development  peptide cross-linking  peptide cross-linking  keratinocyte differentiation  structural constituent of epidermis  cornification  skin epidermis development  
Ontology : EGO-EBIcornified envelope  cornified envelope  cornified envelope  structural molecule activity  protein binding  cytoplasm  cytosol  epidermis development  peptide cross-linking  peptide cross-linking  keratinocyte differentiation  structural constituent of epidermis  cornification  skin epidermis development  
NDEx NetworkSPRR2E
Atlas of Cancer Signalling NetworkSPRR2E
Wikipedia pathwaysSPRR2E
Orthology - Evolution
OrthoDB6704
GeneTree (enSembl)ENSG00000203785
Phylogenetic Trees/Animal Genes : TreeFamSPRR2E
HOVERGENP22531
HOGENOMP22531
Homologs : HomoloGeneSPRR2E
Homology/Alignments : Family Browser (UCSC)SPRR2E
Gene fusions - Rearrangements
Tumor Fusion PortalSPRR2E
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPRR2E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPRR2E
dbVarSPRR2E
ClinVarSPRR2E
1000_GenomesSPRR2E 
Exome Variant ServerSPRR2E
ExAC (Exome Aggregation Consortium)ENSG00000203785
GNOMAD BrowserENSG00000203785
Genetic variants : HAPMAP6704
Genomic Variants (DGV)SPRR2E [DGVbeta]
DECIPHERSPRR2E [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPRR2E 
Mutations
ICGC Data PortalSPRR2E 
TCGA Data PortalSPRR2E 
Broad Tumor PortalSPRR2E
OASIS PortalSPRR2E [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPRR2E  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPRR2E
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPRR2E
DgiDB (Drug Gene Interaction Database)SPRR2E
DoCM (Curated mutations)SPRR2E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPRR2E (select a term)
intoGenSPRR2E
Cancer3DSPRR2E(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETSPRR2E
MedgenSPRR2E
Genetic Testing Registry SPRR2E
NextProtP22531 [Medical]
TSGene6704
GENETestsSPRR2E
Target ValidationSPRR2E
Huge Navigator SPRR2E [HugePedia]
snp3D : Map Gene to Disease6704
BioCentury BCIQSPRR2E
ClinGenSPRR2E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6704
Chemical/Pharm GKB GenePA36094
Clinical trialSPRR2E
Miscellaneous
canSAR (ICR)SPRR2E (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPRR2E
EVEXSPRR2E
GoPubMedSPRR2E
iHOPSPRR2E
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 21 13:03:11 CET 2017

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