Gene Report

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Basic Info

Approved Symbol	EVA1A
Previous Symbol	TMEM166, FAM176A
Symbol Alias	FLJ13391
Approved Name	eva-1 homolog A (C. elegans)
Previous Name	transmembrane protein 166, "family with sequence similarity 176, member A"
Location	2p12
Position	chr2:75469302-75569722, -1
External Links	HGNC: 25816 Entrez Gene: 84141 Ensembl: ENSG00000115363 UCSC: uc002sni.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Sharp S.I., 2014	SNP: rs191379486, rs150650642, rs6756306, rs6756748, rs190745719 Other variant: EVA1A_chr2:75693696:D	Significant association of SNP in this gene with BD was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA	360
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52
GO:0005765	lysosomal membrane	cellular component	IEA	14
GO:0006914	autophagy	biological process	IEA	3
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0006915	apoptotic process	biological process	IEA	39

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs17011370	chr2:75465497 - 75465497(1)	downstream_gene_variant	1(0/1/0)
rs190745719	chr2:75472855 - 75472855(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs191379486	chr2:75465165 - 75465165(1)	downstream_gene_variant	1(1/0/0)
rs6756306	chr2:75471970 - 75471970(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs6756748	chr2:75472531 - 75472531(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs150650642	chr2:75467580 - 75467580(1)	downstream_gene_variant	1(1/0/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
EVA1A_chr2:75693696:D	insertion/deletion	Downstream of ENST00000485891, ENST00000490746	1 (1/0/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2p16.1-q11.2	chr2:54700000-102100000	1 (1/0/0)
2p16.2-p11.2	chr2:52600000-91800000	1 (1/0/0)
2p12	chr2:74800000-83100000	1 (0/0/1)
Chr 2	chr2:0-242193529	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr2:75469302..75569722 View in gBrowse