Gene Report

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Basic Info

Approved Symbol	EDA2R
Symbol Alias	XEDAR, EDA-A2R, EDAA2R, TNFRSF27
Approved Name	ectodysplasin A2 receptor
Location	Xq11.1
Position	chrX:66595637-66639298, -1
External Links	HGNC: 17756 Entrez Gene: 60401 Ensembl: ENSG00000131080 UCSC: uc004dwt.2
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
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
Georgi, B., 2014	SNP: rs73221529	Amish-specific putative damaging exonic missense variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004872	receptor activity	molecular function	IDA[11039935]	19
GO:0007275	multicellular organismal development	biological process	IEA	24
GO:0005887	integral component of plasma membrane	cellular component	IEA	158
GO:0016021	integral component of membrane	cellular component	IC[12270937]	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008544	epidermis development	biological process	NAS[11039935]	7
GO:0033209	tumor necrosis factor-mediated signaling pathway	biological process	NAS[11039935]	2
GO:0010668	ectodermal cell differentiation	biological process	IC[12270937]	1
GO:0046330	positive regulation of JNK cascade	biological process	IDA[12270937]	4
GO:0005515	protein binding	molecular function	IPI[11039935]	563
GO:0051092	positive regulation of NF-kappaB transcription factor activity	biological process	IDA[11039935]	12
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	biological process	IEA	2
GO:0005031	tumor necrosis factor-activated receptor activity	molecular function	NAS[11039935]	1

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: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
EDA2R	FADD	NO	in vitro	15280356
EDA2R	TRAF6	NO	in vitro;in vivo	12060722 , 15280356
EDA2R	EDA	NO	in vitro	11039935 , 12270937
EDA2R	TRAF3	NO	in vitro;in vivo	12270937 , 15280356
EDA2R	CASP8	NO	in vitro	15280356

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs73221529	chrX:66615999 - 66615999(1)	missense_variant	1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chrX:66595637..66639298 View in gBrowse