ADHDgene Database

Gene Report

Basic Info

Approved Symbol	CHCHD3
Symbol Alias	FLJ20420
Approved Name	coiled-coil-helix-coiled-coil-helix domain containing 3
Location	7q33
Position	chr7:132469623-132766848, -
External Links	HGNC: 21906 Entrez Gene: 54927 Ensembl: ENSG00000106554 UCSC: uc010lmj.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_Lionel[2011]_7	chr7:0-0 (NCBI36 / hg18)	159	7q32.3	Gain	M
CNV_Elia[2010]_81	chr7:132132696-132314965 (NCBI Build 35 (hg17))	182270	7q33	Duplication	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0008053	mitochondrial fusion	Biological Process		3
GO:0019902	phosphatase binding	Molecular Function	IDA[19389623]	5
GO:0005743	mitochondrial inner membrane	Cellular Component		44
GO:0007007	inner mitochondrial membrane organization	Biological Process		2
GO:0032947	protein complex scaffold	Molecular Function		5
GO:0001227	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	Molecular Function		1
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	Biological Process		78
GO:0005634	nucleus	Cellular Component		770
GO:0005515	protein binding	Molecular Function	IPI[19389623]	910
GO:0005739	mitochondrion	Cellular Component		183
GO:0005737	cytoplasm	Cellular Component		690

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with CHCHD3 (count: 3)

Gene Symbol	Pathway Count	Pathway List
OPA1	5	mitochondrial fusion; mitochondrial inner membrane; inner mitochondrial membrane organization; protein binding; mitochondrion;
MAPK1	5	phosphatase binding; nucleus; protein binding; mitochondrion; cytoplasm;
TCF25	5	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; mitochondrion; cytoplasm;

Genes shared at least 2 KEGG pathways with CHCHD3 (count: 0)

View in gBrowse

Region: chr7:132469623..132766848 View in gBrowse