Gene Report

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Basic Info

Approved Symbol	EDAR
Previous Symbol	ED3, DL
Symbol Alias	ED5, EDA3, Edar, ED1R, EDA1R
Approved Name	ectodysplasin A receptor
Previous Name	ectodysplasin 1, anhidrotic receptor
Location	2q13
Position	chr2:108894471-108989372, -1
External Links	HGNC: 2895 Entrez Gene: 10913 Ensembl: ENSG00000135960 UCSC: uc002teq.4
No. of Studies	1 (Positive: 0; Negative: 1; 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
Xu, W., 2014	SNP: rs260632	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IEA	360
GO:0016021	integral component of membrane	cellular component	NAS[10431241]	219
GO:0030154	cell differentiation	biological process	IEA	31
GO:0004872	receptor activity	molecular function	IDA[11039935]	19

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008544	epidermis development	biological process	TAS[12270937]	7
GO:0006915	apoptotic process	biological process	IEA	39
GO:0004888	transmembrane signaling receptor activity	molecular function	NAS[10431241]	10
GO:0007165	signal transduction	biological process	IEA	136
GO:0045177	apical part of cell	cellular component	IEA	13
GO:0042346	positive regulation of NF-kappaB import into nucleus	biological process	IEA	4
GO:0060662	salivary gland cavitation	biological process	IEA	2
GO:0043473	pigmentation	biological process	IEA	5
GO:0042475	odontogenesis of dentin-containing tooth	biological process	IEA	8
GO:0005515	protein binding	molecular function	IPI[11039935]	563
GO:0001942	hair follicle development	biological process	IEA	4

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04060	Cytokine-cytokine receptor interaction	17

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
EDAR	EDA	NO	in vitro;in vivo	11309369
EDAR	TRAF3	NO	in vivo	11035039
EDAR	TRAF1	NO	in vivo	11035039
EDAR	EDARADD	YES	in vitro	11882293
EDAR	MAP3K14	NO	in vivo	11035039
EDAR	TRAF2	NO	in vivo	11035039

Related other genetic factors

Gene related SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs260632	chr2:108910513 - 108910513(1)	synonymous_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs12712027	chr2:108890617 - 108890617(1)	downstream_gene_variant
rs2127002	chr2:108892159 - 108892159(1)	downstream_gene_variant
rs260594	chr2:108917153 - 108917153(1)	intron_variant
rs260643	chr2:108923197 - 108923197(1)	intron_variant
rs2169812	chr2:108897600 - 108897600(1)	intron_variant
rs103855	chr2:108916261 - 108916261(1)	intron_variant
rs10209491	chr2:108893323 - 108893323(1)	downstream_gene_variant
rs7607563	chr2:108896865 - 108896865(1)	3_prime_UTR_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)
2q12.3-q22.1	chr2:106700000-141500000	1 (0/1/0)
2p13	chr2:108700000-112200000	2 (2/0/0)
Chr 2	chr2:0-242193529	3 (0/3/0)
2p11-q14	chr2:83100000-129100000	1 (0/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr2:108894471..108989372 View in gBrowse