BDgene

Gene Report

Basic Info
Approved Symbol HTT
Previous Symbol HD
Symbol Alias IT15
Approved Name huntingtin
Previous Name huntingtin (Huntington disease)
Location 4p16.3
Position chr4:3074681-3243959, 1
External Links HGNC: 4851
Entrez Gene: 3064
Ensembl: ENSG00000197386
UCSC: uc021xkv.2
No. of Studies 1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 1)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Georgi, B., 2014 SNP: rs363075 Putative damaging exonic variant was found within this gene. Trend Comment on Study
Gene functional annotation
Gene related GO terms (count: 64)

GO terms by PBA (count: 1)

GO terms by database search (count: 63)


Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 2)


Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 1)

BioCarta pathways by database search (count: 0)


Gene related interactors from protein-protein interactions data in HPRD (count: 52)

Related other genetic factors
Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

LD-proxies (count: 0)


Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)


Gene relationship with MDD

View in gBrowse

Region: chr4:3074681..3243959 View in gBrowse
View in gBrowse