ADHDgene Database

Gene Report

Basic Info

Approved Symbol	DNAI2
Approved Name	dynein, axonemal, intermediate chain 2
Previous Name	dynein, axonemal, intermediate polypeptide 2
Name Alias	dynein intermediate chain 2
Location	17q25
Position	chr17:72270386-72311023, +
External Links	HGNC: 18744 Entrez Gene: 64446 Ensembl: ENSG00000171595 UCSC: uc002jkf.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_38	chr17:69439887-70135450 (NCBI36 / hg18)	695564	17q25.1	dup
CNV_Lesch[2011]_8	chr17:69250000-70180000 (NCBI Build 35 (hg17))	930000	17q25.1	Duplication	Maternal (affected)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0042384	cilium assembly	Biological Process	IMP[11153919]	15
GO:0035085	cilium axoneme	Cellular Component	IMP[11153919]	12
GO:0005858	axonemal dynein complex	Cellular Component	IMP[11153919]	3
GO:0005874	microtubule	Cellular Component		52
GO:0003777	microtubule motor activity	Molecular Function	IMP[11153919]	17

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05016	Huntington's disease	28	Huntington disease (HD) is an autosomal-dominant neurodegene...... Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction. More...

Genes shared at least 5 GO terms with DNAI2 (count: 0)

Genes shared at least 2 KEGG pathways with DNAI2 (count: 0)

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Region: chr17:72270386..72311023 View in gBrowse