Gene Report

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Basic Info

Approved Symbol	CHMP1B
Symbol Alias	CHMP1.5, C18orf2, Vps46B
Approved Name	charged multivesicular body protein 1B
Previous Name	chromatin modifying protein 1B
Location	18p11.21
Position	chr18:11851396-11854449, 1
External Links	HGNC: 24287 Entrez Gene: 57132 Ensembl: ENSG00000255112 UCSC: uc002kqe.3
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McNabb, L. D.,2005	SNP: rs1249624, rs1786581 Haplotype: rs1786581 - rs1249624()	Variation in the CHMP1.5 gene does not appear to be associated with bipolar disorder.	Negative	Comment on Study
Yosifova, A.,2009	SNP: rs1786581	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0019904	protein domain specific binding	molecular function	IPI[17928862]	24
GO:0007034	vacuolar transport	biological process	IEA	1

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0039702	viral budding via host ESCRT complex	biological process	IDA[24878737]	1
GO:0015031	protein transport	biological process	IEA	21
GO:0030117	membrane coat	cellular component	IDA[24878737]	2
GO:0007080	mitotic metaphase plate congression	biological process	IMP[20616062]	1
GO:0031902	late endosome membrane	cellular component	IEA	5
GO:0006997	nucleus organization	biological process	IMP[20616062]	2
GO:0010824	regulation of centrosome duplication	biological process	IMP[20616062]	1
GO:0045184	establishment of protein localization	biological process	IMP[23015756]	3
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0051301	cell division	biological process	IMP[19129479]	20
GO:0005515	protein binding	molecular function	IPI[14505570]	563
GO:0000815	ESCRT III complex	cellular component	IDA[24878737]	1
GO:0000920	cell separation after cytokinesis	biological process	IMP[20616062]	1
GO:1901673	regulation of mitotic spindle assembly	biological process	IMP[20616062]	1
GO:0005829	cytosol	cellular component	IEA	223

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 13)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CHMP1B	VPS4B	NO	in vitro	14505570
CHMP1B	RAB11A	NO	yeast 2-hybrid	16730941
CHMP1B	C15orf23	NO	yeast 2-hybrid	16730941
CHMP1B	RASSF7	NO	yeast 2-hybrid	16730941
CHMP1B	SSRP1	NO	yeast 2-hybrid	16730941
CHMP1B	CNOT10	NO	yeast 2-hybrid	16730941
CHMP1B	SUCLG1	NO	yeast 2-hybrid	16730941
CHMP1B	CHMP4B	NO	yeast 2-hybrid	16730941
CHMP1B	CHMP1A	NO	yeast 2-hybrid	14505570 , 16730941
CHMP1B	CHMP5	NO	yeast 2-hybrid	16730941
CHMP1B	STAMBP	NO	in vivo;yeast 2-hybrid	16730941
CHMP1B	SNRNP200	NO	yeast 2-hybrid	16730941
CHMP1B	VPS4A	NO	in vitro;in vivo;yeast 2-hybrid	11559748 , 16730941

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1249624	chr18:11855801 - 11855801(1)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/1/0)
rs1786581	chr18:11852183 - 11852183(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	2(0/2/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
18p11-q12.3	chr18:0-45900000	1 (0/0/1)
18pter-p11	chr18:0-18500000	1 (0/1/0)
Chr 18	chr18:0-80373285	1 (1/0/0)
18p11	chr18:0-18500000	6 (1/2/3)
18p	chr18:0-18500000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr18:11851396..11854449 View in gBrowse