Gene Report

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Basic Info

Approved Symbol	ELAVL2
Symbol Alias	HuB, HEL-N1
Approved Name	ELAV like neuron-specific RNA binding protein 2
Previous Name	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2, "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"
Name Alias	Hu antigen B
Location	9p21
Position	chr9:23690104-23826337, -1
External Links	HGNC: 3313 Entrez Gene: 1993 Ensembl: ENSG00000107105 UCSC: uc003zpu.3
No. of Studies	2 (Positive: 0; Negative: 0; trend: 2)
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
Georgieva, L., 2014		A de novo CNV in this gene was detected in BD.	Trend	Comment on Study
Smith, E. N.,2011	SNP: rs6475738	Suggestive association of this gene was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003730	mRNA 3'-UTR binding	molecular function	TAS[8158249]	4

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0000166	nucleotide binding	molecular function	IEA	17
GO:0005515	protein binding	molecular function	IPI[17289661]	563
GO:0006355	regulation of transcription, DNA-templated	biological process	TAS[8158249]	62
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44

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
ELAVL2	ELAVL3	NO	in vitro;in vivo;yeast 2-hybrid	12384599
ELAVL2	ELAVL4	NO	in vitro;in vivo;yeast 2-hybrid	12384599

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6475738	chr9:23353941 - 23353941(1)		1(0/0/1)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lyudmila Georgieva[2014]_4	chr9:23765046-23953634 (UCSC build 37, hg19)	188588	9p21.3	deletion

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
9p22.3-p21.1	chr9:14200000-33200000	1 (0/0/1)
Chr 9	chr9:0-138394717	3 (0/3/0)
9p21	chr9:19900000-33200000	2 (0/1/1)
9p21-p12	chr9:19900000-40000000	1 (0/0/1)
9p21.3	chr9:19900000-25600000	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: chr9:23690104..23826337 View in gBrowse