HTT
ENSG00000197386
Target class
Unclassified protein
Chromosome
4
- ClinGen gene-disease validity
- Definitive
- Chemical probe available
- Yes
- Other names
- IT15
- Target name
- HTT
- Gene name
- Huntingtin
- Gene symbol
- HTT
- Previous gene symbols
- HD
- Protein name
- Huntingtin (Huntington disease protein) (HD protein) [Cleaved into: Huntingtin, myristoylated N-terminal fragment]
- Gene biotype
- Protein coding
- Gene family
- Receptor ligands|Armadillo like helical domain containing
- Target class
- Unclassified protein
- Target type
- Human gene
- Tissues expressed in
- 54
- Protein localisation evidence grade
- Supported
- Highest tissue expression
- 62.93
- Tissue specificity (Gini)
- 0.242
- Tissue specificity (tau)
- 0.73
- KEGG gene identifiers
- hsa:3064
- Reactome pathways
- R-HSA-9022692
- Protein interaction confidence
- 0.857519
- Protein interaction partners
- 135
- End position
- 3243957
- Start position
- 3041363
- Chromosome
- 4
- Strand
- Forward
- [Huntingtin]: Cytoplasm . Nucleus . Early endosome . Note=The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner (PubMed:15654337). Recruits onto early endosomes in a Rab5- and HAP40-dependent fashion (PubMed:16476778). .
- SUBCELLULAR LOCATION: [Huntingtin, myristoylated N-terminal fragment]: Cytoplasmic vesicle, autophagosome .
- Cytosol
- Nucleoplasm
- PubMed 15654337
- PubMed 16476778
- PubMed 7647777
- PubMed 16391387
- PubMed 24459296
- Tissue specificity (tau)
- 0.730137
- Expression inequality (Gini)
- 0.241541
Expression in transcripts per million
- Cells - EBV-transformed lymphocytes
- 62.93
- Brain - Cerebellum
- 37.64
- Brain - Cerebellar Hemisphere
- 34.65
- Nerve - Tibial
- 28.03
- Lung
- 25.69
Expression in transcripts per million
- Cells - EBV-transformed lymphocytes62.93
- Brain - Cerebellum37.64
- Brain - Cerebellar Hemisphere34.65
- Nerve - Tibial28.03
- Lung25.69
- Brain - Cortex25.31
- Skin - Sun Exposed (Lower leg)24.7
- Brain - Frontal Cortex (BA9)23.91
- Thyroid23.51
- Testis23.5
- Spleen23.42
- Skin - Not Sun Exposed (Suprapubic)23.21
- Pituitary21.07
- Cells - Cultured fibroblasts20.85
- Uterus20.45
- Ovary18.97
- Esophagus - Gastroesophageal Junction18.94
- Adipose - Subcutaneous18.81
- Esophagus - Muscularis18.47
- Small Intestine - Terminal Ileum17.99
- Fallopian Tube17.92
- Esophagus - Mucosa17.68
- Brain - Anterior cingulate cortex (BA24)17.29
- Cervix - Endocervix17.28
- Vagina17.04
And 29 more, listed on the interactive page.
- GO:0000132
- GO:0006890
- GO:0007030
- GO:0031648
- GO:0042297
- GO:0043065
- GO:0045724
- GO:0047496
- GO:0050850
- GO:1901526
- GO:1904504
- GO:1905289
- GO:1905291
- GO:1905337
- GO:2001237
- GO:0005634
- GO:0005654
- GO:0005737
- GO:0005769
- GO:0005770
- GO:0005776
- GO:0005783
- GO:0005794
- GO:0005814
- GO:0005829
- GO:0016234
- GO:0030424
- GO:0030425
- GO:0030659
- GO:0032991
- GO:0048471
- GO:0099523
- GO:0099524
- GO:0002039
- GO:0004721
- GO:0005515
- GO:0005522
- GO:0019900
- GO:0031072
- GO:0034452
- GO:0042802
- GO:0044325
- GO:0045505
- GO:0048487
Related records
Trials (6)
- A Study to Evaluate the Efficacy and Safety of Intrathecally Administered RO7234292 (RG6042) in Participants With Manifest Huntington's Disease
- A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of RO7234292 (ISIS 443139) in Huntington's Disease Patients Who Participated in Prior Investigational Studies of RO7234292 (ISIS 443139)
- A Study to Investigate the Pharmacokinetics and Pharmacodynamics of RO7234292 (RG6042) in CSF and Plasma, and Safety and Tolerability Following Intrathecal Administration in Patients With Huntington's Disease
- An Open-Label Extension Study to Evaluate Long-Term Safety and Tolerability of RO7234292 (RG6042) in Huntington's Disease Participants Who Participated in Prior Roche and Genentech Sponsored Studies
- GENERATION HD2. A Study to Evaluate the Safety, Biomarkers, and Efficacy of Tominersen Compared With Placebo in Participants With Prodromal and Early Manifest Huntington's Disease
- Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of ISIS 443139 in Participants With Early Manifest Huntington's Disease
Drugs (1)
- Tominersen Huntingtin mRNA antisense inhibitor