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PTCHD2 (patched domain containing 2)

Identity

Other aliasDISP3
HGNC (Hugo) PTCHD2
LocusID (NCBI) 57540
Atlas_Id 72370
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 11539295 and ends at 11597640 bp from pter ( according to hg19-Feb_2009)

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)PTCHD2   29251
Cards
Entrez_Gene (NCBI)PTCHD2  57540  patched domain containing 2
AliasesDISP3
GeneCards (Weizmann)PTCHD2
Ensembl hg19 (Hinxton)ENSG00000204624 [Gene_View]  chr1:11539295-11597640 [Contig_View]  PTCHD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000204624 [Gene_View]  chr1:11539295-11597640 [Contig_View]  PTCHD2 [Vega]
ICGC DataPortalENSG00000204624
TCGA cBioPortalPTCHD2
AceView (NCBI)PTCHD2
Genatlas (Paris)PTCHD2
WikiGenes57540
SOURCE (Princeton)PTCHD2
Genetics Home Reference (NIH)PTCHD2
Genomic and cartography
GoldenPath hg19 (UCSC)PTCHD2  -     chr1:11539295-11597640 +  1p36.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PTCHD2  -     1p36.22   [Description]    (hg38-Dec_2013)
EnsemblPTCHD2 - 1p36.22 [CytoView hg19]  PTCHD2 - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIPTCHD2 [Mapview hg19]  PTCHD2 [Mapview hg38]
OMIM611251   
Gene and transcription
Genbank (Entrez)AB037758 AB593117 AK311332 AL117235 AL117236
RefSeq transcript (Entrez)NM_020780
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)PTCHD2
Cluster EST : UnigeneHs.202355 [ NCBI ]
CGAP (NCI)Hs.202355
Alternative Splicing GalleryENSG00000204624
Gene ExpressionPTCHD2 [ NCBI-GEO ]   PTCHD2 [ EBI - ARRAY_EXPRESS ]   PTCHD2 [ SEEK ]   PTCHD2 [ MEM ]
Gene Expression Viewer (FireBrowse)PTCHD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57540
GTEX Portal (Tissue expression)PTCHD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2K9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2K9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2K9
Splice isoforms : SwissVarQ9P2K9
PhosPhoSitePlusQ9P2K9
Domaine pattern : Prosite (Expaxy)SSD (PS50156)   
Domains : Interpro (EBI)MMPL_dom    Patched    SSD   
Domain families : Pfam (Sanger)MMPL (PF03176)    Patched (PF02460)   
Domain families : Pfam (NCBI)pfam03176    pfam02460   
Conserved Domain (NCBI)PTCHD2
DMDM Disease mutations57540
Blocks (Seattle)PTCHD2
SuperfamilyQ9P2K9
Human Protein AtlasENSG00000204624
Peptide AtlasQ9P2K9
IPIIPI00853396   IPI00002283   IPI00155900   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2K9
IntAct (EBI)Q9P2K9
FunCoupENSG00000204624
BioGRIDPTCHD2
STRING (EMBL)PTCHD2
ZODIACPTCHD2
Ontologies - Pathways
QuickGOQ9P2K9
Ontology : AmiGOmolecular_function  endoplasmic reticulum  smoothened signaling pathway  hedgehog receptor activity  integral component of membrane  nuclear membrane  regulation of lipid transport  cholesterol homeostasis  
Ontology : EGO-EBImolecular_function  endoplasmic reticulum  smoothened signaling pathway  hedgehog receptor activity  integral component of membrane  nuclear membrane  regulation of lipid transport  cholesterol homeostasis  
NDEx NetworkPTCHD2
Atlas of Cancer Signalling NetworkPTCHD2
Wikipedia pathwaysPTCHD2
Orthology - Evolution
OrthoDB57540
GeneTree (enSembl)ENSG00000204624
Phylogenetic Trees/Animal Genes : TreeFamPTCHD2
HOVERGENQ9P2K9
HOGENOMQ9P2K9
Homologs : HomoloGenePTCHD2
Homology/Alignments : Family Browser (UCSC)PTCHD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTCHD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTCHD2
dbVarPTCHD2
ClinVarPTCHD2
1000_GenomesPTCHD2 
Exome Variant ServerPTCHD2
ExAC (Exome Aggregation Consortium)PTCHD2 (select the gene name)
Genetic variants : HAPMAP57540
Genomic Variants (DGV)PTCHD2 [DGVbeta]
DECIPHER (Syndromes)1:11539295-11597640  ENSG00000204624
CONAN: Copy Number AnalysisPTCHD2 
Mutations
ICGC Data PortalPTCHD2 
TCGA Data PortalPTCHD2 
Broad Tumor PortalPTCHD2
OASIS PortalPTCHD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTCHD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTCHD2
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 PTCHD2
DgiDB (Drug Gene Interaction Database)PTCHD2
DoCM (Curated mutations)PTCHD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTCHD2 (select a term)
intoGenPTCHD2
Cancer3DPTCHD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611251   
Orphanet
MedgenPTCHD2
Genetic Testing Registry PTCHD2
NextProtQ9P2K9 [Medical]
TSGene57540
GENETestsPTCHD2
Huge Navigator PTCHD2 [HugePedia]
snp3D : Map Gene to Disease57540
BioCentury BCIQPTCHD2
ClinGenPTCHD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57540
Chemical/Pharm GKB GenePA142671116
Clinical trialPTCHD2
Miscellaneous
canSAR (ICR)PTCHD2 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTCHD2
EVEXPTCHD2
GoPubMedPTCHD2
iHOPPTCHD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 12:40:09 CET 2017

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