HTT gene
E730391
The HTT gene encodes the huntingtin protein, and mutations in this gene—particularly CAG trinucleotide repeat expansions—cause Huntington's disease, a progressive neurodegenerative disorder.
All labels observed (1)
| Label | Occurrences |
|---|---|
| HTT gene canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T8372289 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: HTT gene Context triple: [Huntington's chorea, hasGeneticBasisIn, HTT gene]
-
A.
HDY
HDY is the IATA airport code for Hat Yai International Airport in southern Thailand, a key regional hub serving the city of Hat Yai and the surrounding area.
-
B.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
-
C.
C9orf72
C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
-
D.
APOE gene
The APOE gene encodes apolipoprotein E, a key protein in lipid metabolism whose variants, especially ε4, strongly influence risk for Alzheimer’s disease and cardiovascular disorders.
-
E.
SMN1 gene
The SMN1 gene is a human gene whose proper function is critical for motor neuron survival, and mutations in it are the primary cause of spinal muscular atrophy.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: HTT gene Target entity description: The HTT gene encodes the huntingtin protein, and mutations in this gene—particularly CAG trinucleotide repeat expansions—cause Huntington's disease, a progressive neurodegenerative disorder.
-
A.
HDY
HDY is the IATA airport code for Hat Yai International Airport in southern Thailand, a key regional hub serving the city of Hat Yai and the surrounding area.
-
B.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
-
C.
C9orf72
C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
-
D.
APOE gene
The APOE gene encodes apolipoprotein E, a key protein in lipid metabolism whose variants, especially ε4, strongly influence risk for Alzheimer’s disease and cardiovascular disorders.
-
E.
SMN1 gene
The SMN1 gene is a human gene whose proper function is critical for motor neuron survival, and mutations in it are the primary cause of spinal muscular atrophy.
- F. None of above. chosen
Statements (47)
| Predicate | Object |
|---|---|
| instanceOf | gene ⓘ |
| alternativeName |
IT15
ⓘ
huntingtin (Huntington disease) gene ⓘ
linked to:
huntingtin
|
| associatedWith |
Huntington's disease
ⓘ
linked to:
Huntington's chorea
|
| cellularLocation |
cytoplasm
ⓘ
nucleus ⓘ |
| chromosomalBand | 4p16.3 ⓘ |
| discoveredBy |
Huntington's Disease Collaborative Research Group
ⓘ
linked to:
Huntington's chorea
|
| discoveryYear | 1993 ⓘ |
| encodes |
huntingtin protein
ⓘ
linked to:
huntingtin
|
| EnsemblGeneID | ENSG00000197386 ⓘ |
| EntrezGeneID | 3064 ⓘ |
| expandedCAGRepeatLeadsTo |
protein aggregation
ⓘ
toxic gain of function ⓘ |
| expressedIn |
brain
ⓘ
neurons ⓘ |
| fullName | huntingtin ⓘ |
| geneFamily | polyglutamine disease genes ⓘ |
| geneType | single-copy gene ⓘ |
| hasMouseOrtholog |
Htt
ⓘ
linked to:
HTT
|
| hasMutationType | CAG trinucleotide repeat expansion ⓘ |
| hasReferenceProteinSequence | NP_002102 ⓘ |
| hasReferenceSequence | NM_002111 ⓘ |
| hasRepeatRegion | polyglutamine tract ⓘ |
| hasRepeatUnit | CAG ⓘ |
| HGNCID | HGNC:4851 ⓘ |
| highExpressionIn |
cortex
ⓘ
striatum ⓘ |
| inheritancePatternOfAssociatedDisease | autosomal dominant ⓘ |
| interactsWith |
HAP1
ⓘ
REST ⓘ
linked to:
REST API
dynein motor complex ⓘ |
| locatedOnChromosome | chromosome 4 ⓘ |
| mouseHttKnockoutPhenotype | embryonic lethality ⓘ |
| mutationCauses |
Huntington's disease
ⓘ
linked to:
Huntington's chorea
|
| normalCAGRepeatRange | about 10–35 repeats ⓘ |
| OMIMID | 613004 ⓘ |
| organism | Homo sapiens ⓘ |
| participatesIn |
axonal transport
ⓘ
cell survival pathways ⓘ transcriptional regulation ⓘ vesicle trafficking ⓘ |
| pathogenicCAGRepeatThreshold | about 36 or more repeats ⓘ |
| pathogenicMechanismInDisease | neurodegeneration of medium spiny neurons ⓘ |
| proteinLength | 3144 amino acids ⓘ |
| UniProtID | P42858 ⓘ |
| usedIn | genetic testing for Huntington's disease ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: HTT gene Description of subject: The HTT gene encodes the huntingtin protein, and mutations in this gene—particularly CAG trinucleotide repeat expansions—cause Huntington's disease, a progressive neurodegenerative disorder.
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.