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HTT (huntingtin)

Identity

Other namesHD
IT15
HGNC (Hugo) HTT
LocusID (NCBI) 3064
Atlas_Id 40801
Location 4p16.3
Location_base_pair Starts at 3076237 and ends at 3245687 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CYB561 (17q23.3) / HTT (4p16.3)GOT2 (16q21) / HTT (4p16.3)HTT (4p16.3) / ESYT2 (7q36.3)
HTT (4p16.3) / FASN (17q25.3)HTT (4p16.3) / GRK4 (4p16.3)HTT (4p16.3) / HTT (4p16.3)
HTT (4p16.3) / TMED4 (7p13)RGS12 (4p16.3) / HTT (4p16.3)TBC1D5 (3p24.3) / HTT (4p16.3)
HTT 4p16.3 / ESYT2 7q36.3HTT 4p16.3 / GRK4 4p16.3TBC1D5 3p24.3 / HTT 4p16.3

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)HTT   4851
Cards
Entrez_Gene (NCBI)HTT  3064  huntingtin
AliasesHD; IT15
GeneCards (Weizmann)HTT
Ensembl hg19 (Hinxton)ENSG00000197386 [Gene_View]  chr4:3076237-3245687 [Contig_View]  HTT [Vega]
Ensembl hg38 (Hinxton)ENSG00000197386 [Gene_View]  chr4:3076237-3245687 [Contig_View]  HTT [Vega]
ICGC DataPortalENSG00000197386
TCGA cBioPortalHTT
AceView (NCBI)HTT
Genatlas (Paris)HTT
WikiGenes3064
SOURCE (Princeton)HTT
Genomic and cartography
GoldenPath hg19 (UCSC)HTT  -     chr4:3076237-3245687 +  4p16.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HTT  -     4p16.3   [Description]    (hg38-Dec_2013)
EnsemblHTT - 4p16.3 [CytoView hg19]  HTT - 4p16.3 [CytoView hg38]
Mapping of homologs : NCBIHTT [Mapview hg19]  HTT [Mapview hg38]
OMIM143100   613004   
Gene and transcription
Genbank (Entrez)AB016794 AB209506 AK025918 AK290544 BC014028
RefSeq transcript (Entrez)NM_002111
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_009378 NT_006051 NW_004929314
Consensus coding sequences : CCDS (NCBI)HTT
Cluster EST : UnigeneHs.518450 [ NCBI ]
CGAP (NCI)Hs.518450
Alternative Splicing GalleryENSG00000197386
Gene ExpressionHTT [ NCBI-GEO ]   HTT [ EBI - ARRAY_EXPRESS ]   HTT [ SEEK ]   HTT [ MEM ]
Gene Expression Viewer (FireBrowse)HTT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3064
GTEX Portal (Tissue expression)HTT
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42858 (Uniprot)
NextProtP42858  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP42858
Splice isoforms : SwissVarP42858 (Swissvar)
PhosPhoSitePlusP42858
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Huntingtin    Huntingtin_fam    Huntingtin_middle-repeat   
Domain families : Pfam (Sanger)DUF3652 (PF12372)   
Domain families : Pfam (NCBI)pfam12372   
DMDM Disease mutations3064
Blocks (Seattle)HTT
PDB (SRS)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED    4RAV   
PDB (PDBSum)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED    4RAV   
PDB (IMB)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED    4RAV   
PDB (RSDB)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED    4RAV   
Structural Biology KnowledgeBase2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED    4RAV   
SCOP (Structural Classification of Proteins)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED    4RAV   
CATH (Classification of proteins structures)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED    4RAV   
SuperfamilyP42858
Human Protein AtlasENSG00000197386
Peptide AtlasP42858
HPRD00883
IPIIPI00002335   IPI00967382   
Protein Interaction databases
DIP (DOE-UCLA)P42858
IntAct (EBI)P42858
FunCoupENSG00000197386
BioGRIDHTT
STRING (EMBL)HTT
ZODIACHTT
Ontologies - Pathways
QuickGOP42858
Ontology : AmiGOestablishment of mitotic spindle orientation  p53 binding  receptor binding  protein binding  profilin binding  nucleus  nucleoplasm  cytoplasm  late endosome  autophagosome  endoplasmic reticulum  Golgi apparatus  centriole  cytosol  retrograde vesicle-mediated transport, Golgi to ER  apoptotic process  Golgi organization  central nervous system development  transcription factor binding  postsynaptic density  clathrin-coated vesicle  axon  dendrite  cytoplasmic vesicle membrane  positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  regulation of protein phosphatase type 2A activity  dynactin binding  vocal learning  identical protein binding  neuronal cell body  protein complex  ion channel binding  dynein intermediate chain binding  positive regulation of cilium assembly  vesicle transport along microtubule  beta-tubulin binding  animal organ development  mRNA transport  neuronal ribonucleoprotein granule  negative regulation of cysteine-type endopeptidase activity  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIestablishment of mitotic spindle orientation  p53 binding  receptor binding  protein binding  profilin binding  nucleus  nucleoplasm  cytoplasm  late endosome  autophagosome  endoplasmic reticulum  Golgi apparatus  centriole  cytosol  retrograde vesicle-mediated transport, Golgi to ER  apoptotic process  Golgi organization  central nervous system development  transcription factor binding  postsynaptic density  clathrin-coated vesicle  axon  dendrite  cytoplasmic vesicle membrane  positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  regulation of protein phosphatase type 2A activity  dynactin binding  vocal learning  identical protein binding  neuronal cell body  protein complex  ion channel binding  dynein intermediate chain binding  positive regulation of cilium assembly  vesicle transport along microtubule  beta-tubulin binding  animal organ development  mRNA transport  neuronal ribonucleoprotein granule  negative regulation of cysteine-type endopeptidase activity  negative regulation of extrinsic apoptotic signaling pathway  
Pathways : BIOCARTAInhibition of Huntington's disease neurodegeneration by histone deacetylase inhibitors [Genes]   
Pathways : KEGGHuntington's disease   
NDEx Network
Atlas of Cancer Signalling NetworkHTT
Wikipedia pathwaysHTT
Orthology - Evolution
OrthoDB3064
GeneTree (enSembl)ENSG00000197386
Phylogenetic Trees/Animal Genes : TreeFamHTT
Homologs : HomoloGeneHTT
Homology/Alignments : Family Browser (UCSC)HTT
Gene fusions - Rearrangements
Fusion: TCGAHTT 4p16.3 ESYT2 7q36.3 BRCA
Fusion: TCGAHTT 4p16.3 GRK4 4p16.3 BLCA
Fusion: TCGATBC1D5 3p24.3 HTT 4p16.3 KIRC
Polymorphisms : SNP, variants
NCBI Variation ViewerHTT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HTT
dbVarHTT
ClinVarHTT
1000_GenomesHTT 
Exome Variant ServerHTT
ExAC (Exome Aggregation Consortium)HTT (select the gene name)
Genetic variants : HAPMAP3064
Genomic Variants (DGV)HTT [DGVbeta]
Mutations
ICGC Data PortalHTT 
TCGA Data PortalHTT 
Broad Tumor PortalHTT
OASIS PortalHTT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHTT 
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HTT
DgiDB (Drug Gene Interaction Database)HTT
DoCM (Curated mutations)HTT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HTT (select a term)
intoGenHTT
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:3076237-3245687  ENSG00000197386
CONAN: Copy Number AnalysisHTT 
Mutations and Diseases : HGMDHTT
OMIM143100    613004   
MedgenHTT
Genetic Testing Registry HTT
NextProtP42858 [Medical]
TSGene3064
GENETestsHTT
Huge Navigator HTT [HugePedia]
snp3D : Map Gene to Disease3064
BioCentury BCIQHTT
ClinGenHTT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3064
Chemical/Pharm GKB GenePA164741646
Clinical trialHTT
Miscellaneous
canSAR (ICR)HTT (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHTT
EVEXHTT
GoPubMedHTT
iHOPHTT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:06:16 CEST 2016

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