HTT (huntingtin)

2003-05-01  

Identity

HGNC
HTT
LOCATION
4p16.3
LOCUSID
3064
ALIAS
HD,IT15,LOMARS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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

Online version: http://atlasgeneticsoncology.org/gene/40801/gene-explorer/gene-fusions/humanGenome