Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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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)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[12783847]	283

GO terms by database search (count: 63)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006888	ER to Golgi vesicle-mediated transport	biological process	IEA	6
GO:0007212	dopamine receptor signaling pathway	biological process	IEA	2
GO:0005794	Golgi apparatus	cellular component	IDA[15837803]	60
GO:0042802	identical protein binding	molecular function	IPI[22119730]	44
GO:0007569	cell aging	biological process	IEA	5
GO:0016234	inclusion body	cellular component	IEA	2
GO:0016197	endosomal transport	biological process	IEA	3
GO:0048666	neuron development	biological process	IEA	7
GO:0007626	locomotory behavior	biological process	IEA	23
GO:0045505	dynein intermediate chain binding	molecular function	IDA[20515468]	1
GO:0000132	establishment of mitotic spindle orientation	biological process	IMP[20696378]	2
GO:0008340	determination of adult lifespan	biological process	IEA	1
GO:0006890	retrograde vesicle-mediated transport, Golgi to ER	biological process	IMP[20515468]	2
GO:0005783	endoplasmic reticulum	cellular component	IDA[17704510]	49
GO:0030659	cytoplasmic vesicle membrane	cellular component	IDA[7748555]	12
GO:0051592	response to calcium ion	biological process	IEA	7
GO:0002039	p53 binding	molecular function	IPI[10823891]	7
GO:0007029	endoplasmic reticulum organization	biological process	IEA	3
GO:0046902	regulation of mitochondrial membrane permeability	biological process	IEA	2
GO:0030073	insulin secretion	biological process	IEA	6
GO:0007030	Golgi organization	biological process	IMP[20515468]	4
GO:0047496	vesicle transport along microtubule	biological process	IMP[20515468]	5
GO:0030425	dendrite	cellular component	IDA[7748555]	65
GO:0007625	grooming behavior	biological process	IEA	5
GO:0051402	neuron apoptotic process	biological process	IEA	4
GO:0007283	spermatogenesis	biological process	IEA	29
GO:0008134	transcription factor binding	molecular function	IBA	28
GO:0009952	anterior/posterior pattern specification	biological process	IEA	6
GO:0005515	protein binding	molecular function	IPI[10823891]	563
GO:0021990	neural plate formation	biological process	IEA	1
GO:0042445	hormone metabolic process	biological process	IEA	4
GO:0034452	dynactin binding	molecular function	IPI[18922795]	1
GO:0005776	autophagic vacuole	cellular component	IDA[17704510]	2
GO:0048487	beta-tubulin binding	molecular function	IDA[11870213]	4
GO:0051881	regulation of mitochondrial membrane potential	biological process	IEA	3
GO:0034047	regulation of protein phosphatase type 2A activity	biological process	IMP[21562226]	1
GO:0005829	cytosol	cellular component	IDA[20515468]	223
GO:0043524	negative regulation of neuron apoptotic process	biological process	IEA	26
GO:0048513	organ development	biological process	IBA	2
GO:0021756	striatum development	biological process	IEA	3
GO:0055072	iron ion homeostasis	biological process	IEA	2
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0008088	axon cargo transport	biological process	IEA	2
GO:0043234	protein complex	cellular component	IDA[18922795]	27
GO:0050809	diazepam binding	molecular function	IEA	1
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	biological process	IMP[19240112]	6
GO:0048167	regulation of synaptic plasticity	biological process	IEA	9
GO:0006606	protein import into nucleus	biological process	IEA	3
GO:0051938	L-glutamate import	biological process	IEA	3
GO:0008542	visual learning	biological process	IEA	17
GO:0019805	quinolinate biosynthetic process	biological process	IEA	1
GO:0035176	social behavior	biological process	IEA	17
GO:0000050	urea cycle	biological process	IEA	1
GO:0031587	positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	biological process	IDA[12873381]	1
GO:0021988	olfactory lobe development	biological process	IEA	1
GO:0044325	ion channel binding	molecular function	IDA[12873381]	14
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0000052	citrulline metabolic process	biological process	IEA	1
GO:0005770	late endosome	cellular component	IDA[17704510]	4
GO:0048341	paraxial mesoderm formation	biological process	IEA	1
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0019244	lactate biosynthetic process from pyruvate	biological process	IEA	1
GO:0030424	axon	cellular component	IDA[7748555]	39

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01510	Neurodegenerative Diseases	10
hsa05040	Huntington's disease	6

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
HuntingtonPathway	Inhibition of Huntington's disease neurodegeneration by histone deacetylase inhibitors	3

BioCarta pathways by database search (count: 0)

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HTT	IKBKAP	NO	in vitro;yeast 2-hybrid	15383276
HTT	MAP3K10	NO	in vitro;in vivo	10801775
HTT	CBS	NO	in vivo;yeast 2-hybrid	9466992 , 10434301
HTT	DLG4	NO	in vitro;in vivo	11319238
HTT	CHD3	NO	in vitro;yeast 2-hybrid	15383276
HTT	GRB2	NO	in vitro;in vivo	9079622
HTT	HIP1	NO	in vitro;in vivo;yeast 2-hybrid	11063258 , 9147654
HTT	PRPF40B	NO	yeast 2-hybrid	9700202
HTT	GAPDH	NO	in vitro	8612237
HTT	AKT1	YES	in vitro;in vivo	12062094
HTT	TAF4	NO	in vitro	11988536
HTT	HIP1R	NO	in vivo	11063258
HTT	TP53	NO	in vitro;in vivo	10823891
HTT	TUBB	YES	in vitro;in vivo	11870213
HTT	UBE2K	NO	in vitro;yeast 2-hybrid	8702625
HTT	REST	NO	in vivo	12881722
HTT	PRPF40A	NO	in vitro;in vivo;yeast 2-hybrid	9700202
HTT	TPR	NO	in vitro;in vivo;yeast 2-hybrid	15654337
HTT	CASP6	NO	in vitro	10770929
HTT	TCERG1	NO	in vitro;yeast 2-hybrid	11172033
HTT	TRIP10	NO	in vitro	12604778
HTT	PFN2	NO	yeast 2-hybrid	15383276
HTT	SYMPK	NO	yeast 2-hybrid	9700202
HTT	KIAA1377	NO	yeast 2-hybrid	15383276
HTT	CRMP1	NO	in vivo	15383276
HTT	SETD2	NO	in vitro;in vivo;yeast 2-hybrid	9700202
HTT	SP1	NO	in vitro;in vivo;yeast 2-hybrid	11839795 , 11988536
HTT	CTBP1	NO	in vivo	11739372
HTT	SAP30	NO	in vivo	10441327
HTT	ZDHHC17	NO	in vitro;in vivo;yeast 2-hybrid	12393793 , 9700202 , 15603740
HTT	SH3GL3	NO	in vitro;in vivo;yeast 2-hybrid	9809064
HTT	MTSS1	NO	yeast 2-hybrid	15383276
HTT	GPRASP2	NO	yeast 2-hybrid	15383276
HTT	CXorf27	NO	yeast 2-hybrid	9700202
HTT	C15orf63	NO	yeast 2-hybrid	9700202
HTT	AP2A2	NO	yeast 2-hybrid	9700202
HTT	PIAS4	YES	in vitro	15383276
HTT	GIT1	NO	in vitro;in vivo;yeast 2-hybrid	15383276
HTT	MED31	NO	in vitro	15383276
HTT	FICD	NO	yeast 2-hybrid	9700202
HTT	SUMO1	NO	in vitro	15064418
HTT	NCOR1	NO	in vitro;in vivo;yeast 2-hybrid	10441327
HTT	HAP1	NO	in vitro;in vivo;yeast 2-hybrid	7477378 , 10974549 , 9668110 , 9599014 , 9454836
HTT	XRCC6	NO	in vitro;yeast 2-hybrid	15383276
HTT	UTP14A	NO	yeast 2-hybrid	15383276
HTT	SIN3A	NO	in vitro;in vivo	10823891
HTT	PDK2	NO	yeast 2-hybrid	16169070
HTT	SH3GLB1	NO	in vitro	12456676
HTT	PACSIN1	NO	in vitro;in vivo;yeast 2-hybrid	12354780
HTT	CASP3	NO	in vitro	10770929
HTT	RASA1	NO	in vitro;in vivo	9079622
HTT	F8A1	NO	in vivo	11035034

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs363075	chr4:3135947 - 3135947(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/0/1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
4p16.3	chr4:0-4500000	1 (1/0/0)
Chr 4	chr4:0-190214555	3 (0/3/0)
4p16	chr4:0-11300000	2 (0/1/1)
4p	chr4:0-50000000	1 (0/1/0)

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)

Reference	ID in SZGene	Result Category
11121205	56	Negative
7815437	56	Negative

Gene relationship with MDD

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Region: chr4:3074681..3243959 View in gBrowse