Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	CHCHD3
Symbol Alias	FLJ20420, MINOS3, PPP1R22
Approved Name	coiled-coil-helix-coiled-coil-helix domain containing 3
Name Alias	mitochondrial inner membrane organizing system 3, "protein phosphatase 1, regulatory subunit 22"
Location	7q33
Position	chr7:132784868-133082088, -1
External Links	HGNC: 21906 Entrez Gene: 54927 Ensembl: ENSG00000106554 UCSC: uc003vre.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Huang, J.,2010	SNP: rs12539410	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[22567091]	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007007	inner mitochondrial membrane organization	biological process	IMP[21081504]	2
GO:0005515	protein binding	molecular function	IPI[16189514]	563
GO:0019902	phosphatase binding	molecular function	IDA[19389623]	9
GO:0008053	mitochondrial fusion	biological process	IMP[21081504]	2
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0005739	mitochondrion	cellular component	IDA; ISS	75
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[22567091]	62
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0032947	protein complex scaffold	molecular function	ISS	5
GO:0005737	cytoplasm	cellular component	IDA[22567091]	322
GO:0001227	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	molecular function	IDA[22567091]	2
GO:0005743	mitochondrial inner membrane	cellular component	ISS	12

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CHCHD3	CCDC85B	NO	yeast 2-hybrid	16189514
CHCHD3	KRTAP4-12	NO	yeast 2-hybrid	16189514

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs12539410	chr7:132381325 - 132381325(1)	downstream_gene_variant; intron_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)
7q31-33	chr7:107800000-138500000	1 (0/1/0)

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

Gene relationship with SZ

Reference	Description	Result Category
20713499	No significant association of this gene was observed in SZ.	Negative

Gene relationship with MDD

Reference	Description	Category in MDD
20713499	Suggestive association was found with MDD.	Trend

View in gBrowse

Region: chr7:132784868..133082088 View in gBrowse