Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	60401
Gene name	Ectodysplasin A2 receptor
Gene symbol	EDA2R
Synonyms (NCBI Gene)	EDA-A2REDAA2RTNFRSF27XEDAR
Chromosome	X
Chromosome location	Xq12
Summary	The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin,

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Show/Hide all (227)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016618	hsa-miR-484	Sequencing	20371350
MIRT544097	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT544096	hsa-miR-567	PAR-CLIP	21572407
MIRT558240	hsa-miR-4796-5p	PAR-CLIP	21572407
MIRT544095	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT558239	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT544093	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT544094	hsa-miR-3924	PAR-CLIP	21572407
MIRT544092	hsa-miR-297	PAR-CLIP	21572407
MIRT558238	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT558237	hsa-miR-147a	PAR-CLIP	21572407
MIRT558236	hsa-miR-4455	PAR-CLIP	21572407
MIRT558235	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT544097	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT544096	hsa-miR-567	PAR-CLIP	21572407
MIRT544095	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT544093	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT544094	hsa-miR-3924	PAR-CLIP	21572407
MIRT544092	hsa-miR-297	PAR-CLIP	21572407
MIRT537892	hsa-miR-28-5p	PAR-CLIP	22012620
MIRT537891	hsa-miR-3139	PAR-CLIP	22012620
MIRT537890	hsa-miR-708-5p	PAR-CLIP	22012620
MIRT537889	hsa-miR-4779	PAR-CLIP	22012620
MIRT537888	hsa-miR-6760-5p	PAR-CLIP	22012620
MIRT537887	hsa-miR-4302	PAR-CLIP	22012620
MIRT537886	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT537885	hsa-miR-3150b-3p	PAR-CLIP	22012620
MIRT537884	hsa-miR-4784	PAR-CLIP	22012620
MIRT537883	hsa-miR-4419a	PAR-CLIP	22012620
MIRT537882	hsa-miR-4510	PAR-CLIP	22012620
MIRT537881	hsa-miR-6127	PAR-CLIP	22012620
MIRT537880	hsa-miR-6129	PAR-CLIP	22012620
MIRT537879	hsa-miR-6130	PAR-CLIP	22012620
MIRT537878	hsa-miR-6133	PAR-CLIP	22012620
MIRT537877	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT537876	hsa-miR-7154-3p	PAR-CLIP	22012620
MIRT537875	hsa-miR-765	PAR-CLIP	22012620
MIRT537874	hsa-miR-6894-5p	PAR-CLIP	22012620
MIRT537873	hsa-miR-1249-5p	PAR-CLIP	22012620
MIRT537872	hsa-miR-6797-5p	PAR-CLIP	22012620
MIRT537871	hsa-miR-7847-3p	PAR-CLIP	22012620
MIRT537870	hsa-miR-3911	PAR-CLIP	22012620
MIRT537869	hsa-miR-3915	PAR-CLIP	22012620
MIRT537868	hsa-miR-1224-5p	PAR-CLIP	22012620
MIRT537867	hsa-miR-4689	PAR-CLIP	22012620
MIRT537866	hsa-miR-6858-5p	PAR-CLIP	22012620
MIRT537865	hsa-miR-7113-5p	PAR-CLIP	22012620
MIRT544097	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT544096	hsa-miR-567	PAR-CLIP	21572407
MIRT558240	hsa-miR-4796-5p	PAR-CLIP	21572407
MIRT544095	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT558239	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT544093	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT544094	hsa-miR-3924	PAR-CLIP	21572407
MIRT544092	hsa-miR-297	PAR-CLIP	21572407
MIRT558238	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT558237	hsa-miR-147a	PAR-CLIP	21572407
MIRT558236	hsa-miR-4455	PAR-CLIP	21572407
MIRT558235	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT544097	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT544096	hsa-miR-567	PAR-CLIP	21572407
MIRT544095	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT544093	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT544094	hsa-miR-3924	PAR-CLIP	21572407
MIRT544092	hsa-miR-297	PAR-CLIP	21572407
MIRT537892	hsa-miR-28-5p	PAR-CLIP	22012620
MIRT537891	hsa-miR-3139	PAR-CLIP	22012620
MIRT537890	hsa-miR-708-5p	PAR-CLIP	22012620
MIRT537889	hsa-miR-4779	PAR-CLIP	22012620
MIRT537888	hsa-miR-6760-5p	PAR-CLIP	22012620
MIRT537887	hsa-miR-4302	PAR-CLIP	22012620
MIRT537886	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT537885	hsa-miR-3150b-3p	PAR-CLIP	22012620
MIRT537884	hsa-miR-4784	PAR-CLIP	22012620
MIRT537883	hsa-miR-4419a	PAR-CLIP	22012620
MIRT537882	hsa-miR-4510	PAR-CLIP	22012620
MIRT537881	hsa-miR-6127	PAR-CLIP	22012620
MIRT537880	hsa-miR-6129	PAR-CLIP	22012620
MIRT537879	hsa-miR-6130	PAR-CLIP	22012620
MIRT537878	hsa-miR-6133	PAR-CLIP	22012620
MIRT537877	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT537876	hsa-miR-7154-3p	PAR-CLIP	22012620
MIRT537875	hsa-miR-765	PAR-CLIP	22012620
MIRT537874	hsa-miR-6894-5p	PAR-CLIP	22012620
MIRT537873	hsa-miR-1249-5p	PAR-CLIP	22012620
MIRT537872	hsa-miR-6797-5p	PAR-CLIP	22012620
MIRT537871	hsa-miR-7847-3p	PAR-CLIP	22012620
MIRT537870	hsa-miR-3911	PAR-CLIP	22012620
MIRT537869	hsa-miR-3915	PAR-CLIP	22012620
MIRT537868	hsa-miR-1224-5p	PAR-CLIP	22012620
MIRT537867	hsa-miR-4689	PAR-CLIP	22012620
MIRT537866	hsa-miR-6858-5p	PAR-CLIP	22012620
MIRT537865	hsa-miR-7113-5p	PAR-CLIP	22012620
MIRT951948	hsa-miR-1184	CLIP-seq
MIRT951949	hsa-miR-1470	CLIP-seq
MIRT951950	hsa-miR-1915	CLIP-seq
MIRT951951	hsa-miR-3155	CLIP-seq
MIRT951952	hsa-miR-3155b	CLIP-seq
MIRT951953	hsa-miR-320a	CLIP-seq
MIRT951954	hsa-miR-320b	CLIP-seq
MIRT951955	hsa-miR-320c	CLIP-seq
MIRT951956	hsa-miR-320d	CLIP-seq
MIRT951957	hsa-miR-320e	CLIP-seq
MIRT951958	hsa-miR-370	CLIP-seq
MIRT951959	hsa-miR-4421	CLIP-seq
MIRT951960	hsa-miR-4429	CLIP-seq
MIRT951961	hsa-miR-4446-5p	CLIP-seq
MIRT951962	hsa-miR-4469	CLIP-seq
MIRT951963	hsa-miR-4667-3p	CLIP-seq
MIRT951964	hsa-miR-4710	CLIP-seq
MIRT951965	hsa-miR-4726-3p	CLIP-seq
MIRT951966	hsa-miR-4786-3p	CLIP-seq
MIRT951967	hsa-miR-4792	CLIP-seq
MIRT951968	hsa-miR-539	CLIP-seq
MIRT951969	hsa-miR-596	CLIP-seq
MIRT951970	hsa-miR-944	CLIP-seq
MIRT951971	hsa-miR-1255a	CLIP-seq
MIRT951972	hsa-miR-1255b	CLIP-seq
MIRT951973	hsa-miR-3127-3p	CLIP-seq
MIRT951974	hsa-miR-3134	CLIP-seq
MIRT951975	hsa-miR-3166	CLIP-seq
MIRT951976	hsa-miR-3667-3p	CLIP-seq
MIRT951977	hsa-miR-3674	CLIP-seq
MIRT951978	hsa-miR-3935	CLIP-seq
MIRT951979	hsa-miR-4771	CLIP-seq
MIRT951980	hsa-miR-520d-5p	CLIP-seq
MIRT951981	hsa-miR-524-5p	CLIP-seq
MIRT951982	hsa-miR-570	CLIP-seq
MIRT951983	hsa-miR-875-5p	CLIP-seq
MIRT1981924	hsa-miR-219-2-3p	CLIP-seq
MIRT1981925	hsa-miR-24	CLIP-seq
MIRT1981926	hsa-miR-2964a-3p	CLIP-seq
MIRT1981927	hsa-miR-4284	CLIP-seq
MIRT1981928	hsa-miR-4452	CLIP-seq
MIRT1981929	hsa-miR-489	CLIP-seq
MIRT1981930	hsa-miR-583	CLIP-seq
MIRT1981924	hsa-miR-219-2-3p	CLIP-seq
MIRT1981926	hsa-miR-2964a-3p	CLIP-seq
MIRT1981928	hsa-miR-4452	CLIP-seq
MIRT2448642	hsa-miR-4633-3p	CLIP-seq
MIRT2448643	hsa-miR-610	CLIP-seq
MIRT2448644	hsa-miR-708	CLIP-seq
MIRT2448642	hsa-miR-4633-3p	CLIP-seq
MIRT2448643	hsa-miR-610	CLIP-seq
MIRT2448644	hsa-miR-708	CLIP-seq
MIRT2520773	hsa-miR-1179	CLIP-seq
MIRT2520774	hsa-miR-1245b-3p	CLIP-seq
MIRT2520775	hsa-miR-1246	CLIP-seq
MIRT2520776	hsa-miR-1288	CLIP-seq
MIRT2520777	hsa-miR-1304	CLIP-seq
MIRT2520778	hsa-miR-135a	CLIP-seq
MIRT2520779	hsa-miR-135b	CLIP-seq
MIRT2520780	hsa-miR-142-3p	CLIP-seq
MIRT2520781	hsa-miR-147	CLIP-seq
MIRT2520782	hsa-miR-1587	CLIP-seq
MIRT2520783	hsa-miR-183	CLIP-seq
MIRT2520784	hsa-miR-18a	CLIP-seq
MIRT2520785	hsa-miR-18b	CLIP-seq
MIRT2520786	hsa-miR-1972	CLIP-seq
MIRT2520787	hsa-miR-2110	CLIP-seq
MIRT2520788	hsa-miR-2964a-5p	CLIP-seq
MIRT2520789	hsa-miR-302f	CLIP-seq
MIRT2520790	hsa-miR-3124-3p	CLIP-seq
MIRT2520791	hsa-miR-3126-5p	CLIP-seq
MIRT2520792	hsa-miR-3150a-3p	CLIP-seq
MIRT2520793	hsa-miR-3151	CLIP-seq
MIRT2520794	hsa-miR-3162-3p	CLIP-seq
MIRT2520795	hsa-miR-3199	CLIP-seq
MIRT2520796	hsa-miR-3200-5p	CLIP-seq
MIRT2520797	hsa-miR-3613-3p	CLIP-seq
MIRT2520798	hsa-miR-3613-5p	CLIP-seq
MIRT2520799	hsa-miR-361-3p	CLIP-seq
MIRT2520800	hsa-miR-3616-3p	CLIP-seq
MIRT2520801	hsa-miR-3673	CLIP-seq
MIRT951977	hsa-miR-3674	CLIP-seq
MIRT2520802	hsa-miR-3685	CLIP-seq
MIRT2520803	hsa-miR-371b-5p	CLIP-seq
MIRT2520804	hsa-miR-384	CLIP-seq
MIRT2520805	hsa-miR-4251	CLIP-seq
MIRT2520806	hsa-miR-4260	CLIP-seq
MIRT2520807	hsa-miR-4271	CLIP-seq
MIRT2520808	hsa-miR-4314	CLIP-seq
MIRT2520809	hsa-miR-4329	CLIP-seq
MIRT2520810	hsa-miR-4330	CLIP-seq
MIRT2520811	hsa-miR-4446-3p	CLIP-seq
MIRT2520812	hsa-miR-4447	CLIP-seq
MIRT2520813	hsa-miR-4471	CLIP-seq
MIRT2520814	hsa-miR-4472	CLIP-seq
MIRT2520815	hsa-miR-4473	CLIP-seq
MIRT2520816	hsa-miR-4492	CLIP-seq
MIRT2520817	hsa-miR-4498	CLIP-seq
MIRT2520818	hsa-miR-4650-5p	CLIP-seq
MIRT2520819	hsa-miR-4656	CLIP-seq
MIRT2520820	hsa-miR-4659a-5p	CLIP-seq
MIRT2520821	hsa-miR-4659b-5p	CLIP-seq
MIRT2520822	hsa-miR-4662a-3p	CLIP-seq
MIRT2520823	hsa-miR-4674	CLIP-seq
MIRT2520824	hsa-miR-4675	CLIP-seq
MIRT2520825	hsa-miR-4715-3p	CLIP-seq
MIRT2520826	hsa-miR-4718	CLIP-seq
MIRT2520827	hsa-miR-4721	CLIP-seq
MIRT2520828	hsa-miR-4725-3p	CLIP-seq
MIRT2520829	hsa-miR-4728-3p	CLIP-seq
MIRT2520830	hsa-miR-4732-5p	CLIP-seq
MIRT2520831	hsa-miR-4735-3p	CLIP-seq
MIRT2520832	hsa-miR-4741	CLIP-seq
MIRT2520833	hsa-miR-4781-3p	CLIP-seq
MIRT2520834	hsa-miR-4802-3p	CLIP-seq
MIRT2520835	hsa-miR-490-3p	CLIP-seq
MIRT2520836	hsa-miR-490-5p	CLIP-seq
MIRT2520837	hsa-miR-491-5p	CLIP-seq
MIRT2520838	hsa-miR-500a	CLIP-seq
MIRT2520839	hsa-miR-501-5p	CLIP-seq
MIRT2520840	hsa-miR-510	CLIP-seq
MIRT2520841	hsa-miR-511	CLIP-seq
MIRT2520842	hsa-miR-512-3p	CLIP-seq
MIRT2520843	hsa-miR-512-5p	CLIP-seq
MIRT2520844	hsa-miR-520f	CLIP-seq
MIRT2520845	hsa-miR-564	CLIP-seq
MIRT1981930	hsa-miR-583	CLIP-seq
MIRT2520846	hsa-miR-599	CLIP-seq
MIRT2520847	hsa-miR-619	CLIP-seq
MIRT2520848	hsa-miR-626	CLIP-seq
MIRT2520849	hsa-miR-628-5p	CLIP-seq
MIRT2520850	hsa-miR-635	CLIP-seq
MIRT2520851	hsa-miR-649	CLIP-seq
MIRT2520852	hsa-miR-762	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	11039935
GO:0005031	Function	Tumor necrosis factor receptor activity	IEA
GO:0005031	Function	Tumor necrosis factor receptor activity	NAS	11039935
GO:0005515	Function	Protein binding	IPI	11039935, 12270937, 15280356, 27144394, 28514442, 32296183, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12270937
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0008544	Process	Epidermis development	NAS	11039935
GO:0010668	Process	Ectodermal cell differentiation	TAS	12270937
GO:0016020	Component	Membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	11039935
GO:0030154	Process	Cell differentiation	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEA
GO:0038023	Function	Signaling receptor activity	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	11039935
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IBA
GO:0046330	Process	Positive regulation of JNK cascade	IDA	12270937
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IEA

MIM	HGNC	e!Ensembl
300276	17756	ENSG00000131080

Q9HAV5

Protein name

Tumor necrosis factor receptor superfamily member 27 (X-linked ectodysplasin-A2 receptor) (EDA-A2 receptor)

Protein function

Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00020	TNFR_c6	3 → 41	TNFR/NGFR cysteine-rich region	Domain
PF00020	TNFR_c6	44 → 83	TNFR/NGFR cysteine-rich region	Domain

Sequence

MDCQENEYWDQWGRCVTCQRCGPGQELSKDCGYGEGGDAYCTACPPRRYKSSWGHHRCQS
CITCAVINRVQKVNCTATSNAVCGDCLPRFYRKTRIGGLQDQECIPCTKQTPTSEVQCAF
QLSLVEADTPTVPPQEATLVALVSSLLVVFTLAFLGLFFLYCKQFFNRHCQRGGLLQFEA
DKTAKEESLFPVPPSKETSAESQVSENIFQTQPLNPILEDDCSSTSGFPTQESFTMASCT
SESHSHWVHSPIECTELDLQKFSSSASYTGAETLGGNTVESTGDRLELNVPFEVPSP

Sequence length

297

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway		TNFs bind their physiological receptors

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRIST-SIEMENS-TOURAINE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	BEFREE	22309448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	18385763, 22309448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASDB_DG	22693459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	18385763, 22309448, 24352509, 27060448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20145163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20145163	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39300389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37919386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37079385	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	ORPHANET_DG	22889853		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	12270937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20145163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31829409, 33637015	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked hypohidrotic ectodermal dysplasia	Hypohidrotic Ectodermal Dysplasia, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

EDA2R (ectodysplasin A2 receptor)