HTT (huntingtin)

2003-05-01  

Identity

HGNC
LOCATION
4p16.3
LOCUSID
ALIAS
HD,IT15,LOMARS
FUSION GENES

Other Information

Locus ID:

NCBI: 3064
MIM: 613004
HGNC: 4851
Ensembl: ENSG00000197386

Variants:

dbSNP: 3064
ClinVar: 3064
TCGA: ENSG00000197386
COSMIC: HTT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197386ENST00000355072P42858
ENSG00000197386ENST00000502820A0A3B3IU44
ENSG00000197386ENST00000509618H0YA07
ENSG00000197386ENST00000649009A0A3B3ITM9
ENSG00000197386ENST00000649131A0A3B3ISR3
ENSG00000197386ENST00000650588A0A3B3IU25
ENSG00000197386ENST00000650595A0A3B3IU25

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotation, VariantAnnotationassociatedPD29382897
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA450464methylphenidateChemicalClinicalAnnotation, VariantAnnotationassociatedPD29382897
PA451257risperidoneChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
380926672024A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.0
382913342024Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum.9
384274952024Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions.0
384332662024Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.2
384594272024Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.0
388109482024Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases.0
380926672024A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.0
382913342024Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum.9
384274952024Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions.0
384332662024Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.2
384594272024Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.0
388109482024Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases.0
359081902023Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.0
361302182023Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.3
367156142023Normal 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

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