Harmonizome 3.0

huntingtin

Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]

HTT antisense RNA (head to head)

Predicted to be involved in regulation of gene expression. [provided by Alliance of Genome Resources, Mar 2025]

From ChEA Transcription Factor Targets

target genes of the HTT transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term htt in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Hub Proteins Protein-Protein Interactions

interacting proteins for hub protein HTT from the curated Hub Proteins Protein-Protein Interactions dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for HTT from the Pathway Commons Protein-Protein Interactions dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the HTT gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the HTT-18923047-STHdh-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

From CORUM Protein Complexes

proteins in the Htt-Dctn1-Hap1 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the InsP3R1-HAP1A-Htt complex protein complex from the CORUM Protein Complexes dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the 5-HTT brain serotonin transporter levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From ChEA Transcription Factor Targets 2022

target genes of the HTT-18923047-STHDH-HUMAN transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the 5-HTT brain serotonin transporter levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.