Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DHH (desert hedgehog)

Identity

Other namesGDXYM
HHG-3
SRXY7
HGNC (Hugo) DHH
LocusID (NCBI) 50846
Location 12q13.12
Location_base_pair Starts at 49483206 and ends at 49488602 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)DHH   2865
Cards
Entrez_Gene (NCBI)DHH  50846  desert hedgehog
GeneCards (Weizmann)DHH
Ensembl hg19 (Hinxton)ENSG00000139549 [Gene_View]  chr12:49483206-49488602 [Contig_View]  DHH [Vega]
Ensembl hg38 (Hinxton)ENSG00000139549 [Gene_View]  chr12:49483206-49488602 [Contig_View]  DHH [Vega]
ICGC DataPortalENSG00000139549
cBioPortalDHH
AceView (NCBI)DHH
Genatlas (Paris)DHH
WikiGenes50846
SOURCE (Princeton)DHH
Genomic and cartography
GoldenPath hg19 (UCSC)DHH  -     chr12:49483206-49488602 -  12q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DHH  -     12q13.12   [Description]    (hg38-Dec_2013)
EnsemblDHH - 12q13.12 [CytoView hg19]  DHH - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBIDHH [Mapview hg19]  DHH [Mapview hg38]
OMIM233420   605423   607080   
Gene and transcription
Genbank (Entrez)AK313360 BC033507 HQ607677 HQ607678 U59748
RefSeq transcript (Entrez)NM_021044
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_008973 NT_029419 NW_001838057 NW_004929384
Consensus coding sequences : CCDS (NCBI)DHH
Cluster EST : UnigeneHs.524382 [ NCBI ]
CGAP (NCI)Hs.524382
Alternative Splicing : Fast-db (Paris)GSHG0007438
Alternative Splicing GalleryENSG00000139549
Gene ExpressionDHH [ NCBI-GEO ]     DHH [ SEEK ]   DHH [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43323 (Uniprot)
NextProtO43323  [Medical]
With graphics : InterProO43323
Splice isoforms : SwissVarO43323 (Swissvar)
Domains : Interpro (EBI)Hedgehog    Hedgehog/Intein_dom    Hedgehog_sig/DD-Pept_Zn-bd_dom    Hedgehog_signalling_dom    Hint_dom    Hint_dom_C    Hint_dom_N   
Related proteins : CluSTrO43323
Domain families : Pfam (Sanger)HH_signal (PF01085)    Hint (PF01079)   
Domain families : Pfam (NCBI)pfam01085    pfam01079   
Domain families : Smart (EMBL)HintC (SM00305)  HintN (SM00306)  
DMDM Disease mutations50846
Blocks (Seattle)O43323
PDB (SRS)2WFQ    2WFR    2WG3    3N1G    3N1Q   
PDB (PDBSum)2WFQ    2WFR    2WG3    3N1G    3N1Q   
PDB (IMB)2WFQ    2WFR    2WG3    3N1G    3N1Q   
PDB (RSDB)2WFQ    2WFR    2WG3    3N1G    3N1Q   
Human Protein AtlasENSG00000139549
Peptide AtlasO43323
HPRD05664
IPIIPI00011978   
Protein Interaction databases
DIP (DOE-UCLA)O43323
IntAct (EBI)O43323
FunCoupENSG00000139549
BioGRIDDHH
IntegromeDBDHH
STRING (EMBL)DHH
Ontologies - Pathways
QuickGOO43323
Ontology : AmiGOpatched binding  calcium ion binding  protein binding  extracellular space  plasma membrane  proteolysis  cell-cell signaling  spermatid development  peptidase activity  zinc ion binding  male sex determination  response to estradiol  Leydig cell differentiation  myelination  regulation of steroid biosynthetic process  
Ontology : EGO-EBIpatched binding  calcium ion binding  protein binding  extracellular space  plasma membrane  proteolysis  cell-cell signaling  spermatid development  peptidase activity  zinc ion binding  male sex determination  response to estradiol  Leydig cell differentiation  myelination  regulation of steroid biosynthetic process  
Pathways : KEGGHedgehog signaling pathway   
Protein Interaction DatabaseDHH
DoCM (Curated mutations)DHH
Wikipedia pathwaysDHH
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerDHH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHH
dbVarDHH
ClinVarDHH
1000_GenomesDHH 
Exome Variant ServerDHH
SNP (GeneSNP Utah)DHH
SNP : HGBaseDHH
Genetic variants : HAPMAPDHH
Genomic VariantsDHH  DHH [DGVbeta]
Mutations
ICGC Data PortalENSG00000139549 
Somatic Mutations in Cancer : COSMICDHH 
CONAN: Copy Number AnalysisDHH 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:49483206-49488602
Mutations and Diseases : HGMDDHH
OMIM233420    605423    607080   
MedgenDHH
NextProtO43323 [Medical]
GENETestsDHH
Disease Genetic AssociationDHH
Huge Navigator DHH [HugePedia]  DHH [HugeCancerGEM]
snp3D : Map Gene to Disease50846
DGIdb (Drug Gene Interaction db)DHH
General knowledge
Homologs : HomoloGeneDHH
Homology/Alignments : Family Browser (UCSC)DHH
Phylogenetic Trees/Animal Genes : TreeFamDHH
Chemical/Protein Interactions : CTD50846
Chemical/Pharm GKB GenePA27326
Clinical trialDHH
Cancer Resource (Charite)ENSG00000139549
Other databases
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
CoreMineDHH
GoPubMedDHH
iHOPDHH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:11:36 CET 2014
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