Gene Report

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Basic Info

Approved Symbol	PMCH
Symbol Alias	MCH
Approved Name	pro-melanin-concentrating hormone
Location	12q23.2
Position	chr12:102196459-102197845, -1
External Links	HGNC: 9109 Entrez Gene: 5367 Ensembl: ENSG00000183395 UCSC: uc001tjl.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
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
Gratacos, M.,2009	SNP: rs10860845	Nominal associations with bipolar disorder was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IEA	283
GO:0007268	synaptic transmission	biological process	IEA	116
GO:0007275	multicellular organismal development	biological process	IEA	24
GO:0030154	cell differentiation	biological process	IEA	31

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030354	melanin-concentrating hormone activity	molecular function	IEA	1
GO:0005576	extracellular region	cellular component	NAS[8326825]; TAS	97
GO:0007218	neuropeptide signaling pathway	biological process	IEA	18
GO:0007631	feeding behavior	biological process	ISS	12
GO:0007283	spermatogenesis	biological process	IEA	29

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 8)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PMCH	PCSK2	NO	in vivo	10037747
PMCH	PCSK1	NO	in vivo	10037747
PMCH	CPE	NO	in vivo	8770919
PMCH	PCSK6	NO	in vitro;in vivo	10037747
PMCH	FURIN	NO	in vivo	10037747
PMCH	NPY	NO	in vitro	12106685
PMCH	PCSK7	NO	in vivo	10037747
PMCH	PCSK5	YES	in vivo	10037747

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10860845	chr12:102203924 - 102203924(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs7973796		chr12:102202345 - 102202345(1)	downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant

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)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q23	chr12:95800000-108600000	2 (0/1/1)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Reference	ID in SZGene	Result Category
17541984	526	Negative

Gene relationship with MDD

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Region: chr12:102196459..102197845 View in gBrowse