Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3064
MIM: 613004
HGNC: 4851
Ensembl: ENSG00000197386
Variants:
dbSNP: 3064
ClinVar: 3064
TCGA: ENSG00000197386
COSMIC: HTT
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Huntington's disease | KEGG | ko05016 |
| Huntington's disease | KEGG | hsa05016 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447197 | Attention Deficit Disorder with Hyperactivity | Disease | ClinicalAnnotation, VariantAnnotation | associated | PD | 29382897 | |
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | ||
| PA450464 | methylphenidate | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 29382897 | |
| PA451257 | risperidone | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38092667 | 2024 | A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease. | 0 |
| 38291334 | 2024 | Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum. | 9 |
| 38427495 | 2024 | Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions. | 0 |
| 38433266 | 2024 | Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. | 2 |
| 38459427 | 2024 | Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues. | 0 |
| 38810948 | 2024 | Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases. | 0 |
| 38092667 | 2024 | A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease. | 0 |
| 38291334 | 2024 | Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum. | 9 |
| 38427495 | 2024 | Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions. | 0 |
| 38433266 | 2024 | Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. | 2 |
| 38459427 | 2024 | Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues. | 0 |
| 38810948 | 2024 | Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases. | 0 |
| 35908190 | 2023 | Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550. | 0 |
| 36130218 | 2023 | Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease. | 3 |
| 36715614 | 2023 | Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index. | 2 |
Citation
Dessen P
HTT (huntingtin)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40801/htt
