Gene Report

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Basic Info

Approved Symbol	TUBA8
Previous Symbol	TUBAL2
Approved Name	tubulin, alpha 8
Location	22q11
Position	chr22:18110331-18146554, 1
External Links	HGNC: 12410 Entrez Gene: 51807 Ensembl: ENSG00000183785 UCSC: uc002znv.2
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		2 SNP typed, Median D'=0.53, Median r<sup>2</sup> =0.03, 2 LD blocks, NA block coverage, there exists SNP or haplotype nominal P-value < 0.01 in BP and all SNP or haplotype P-value > 0.05 in SZ/SZA.. This gene is highly suggestive to BP , not suggestive to SZ/SZA.	Positive	Comment on Study
Yosifova, A.,2009	SNP: rs362043	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: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005525	GTP binding	molecular function	IEA	20
GO:0051258	protein polymerization	biological process	IEA	3
GO:0005200	structural constituent of cytoskeleton	molecular function	IEA	9
GO:0007017	microtubule-based process	biological process	IEA	2
GO:0008152	metabolic process	biological process	IEA	50
GO:0005874	microtubule	cellular component	IEA	24
GO:0003924	GTPase activity	molecular function	IEA	14
GO:0005737	cytoplasm	cellular component	IEA	322

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04540	Gap junction	15

ID	Name	No. of Genes in BDgene	Brief Description
hsa05131	EPEC	6
hsa05130	Pathogenic Escherichia coli infection	6

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
TUBA8	SIAH1	NO	yeast 2-hybrid	11146551
TUBA8	PXN	NO	in vivo;yeast 2-hybrid	10840040
TUBA8	MYC	NO	in vitro;in vivo	7651436
TUBA8	TCP1	NO	in vivo	9885248

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs362043	chr22:18113683 - 18113683(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q11	chr22:15000000-25500000	1 (0/1/0)
22q11.2	chr22:17400000-25500000	2 (0/2/0)
Chr 22	chr22:0-50818468	2 (0/1/1)

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

Gene relationship with SZ

Reference	Description	Result Category
16380905	This gene is highly suggestive to BP , not suggestive to SZ/SZA.	Negative

Gene relationship with MDD

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Region: chr22:18110331..18146554 View in gBrowse