EDAR (ectodysplasin A receptor)

Gene

• Entrez ID: 10913
• Gene name: Ectodysplasin A receptor
• Gene symbol: EDAR
• Synonyms (NCBI Gene): DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1
• Disease Acronyms (UniProt): ECTD10A, ECTD10B
• Chromosome: 2
• Chromosome location: 2q13
• Summary: This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908450	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908452	G>A	Pathogenic	Stop gained, coding sequence variant
rs121908453	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908454	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908455	T>G	Pathogenic	Coding sequence variant, missense variant
rs121908456	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs199544410	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs368841777	C>T	Pathogenic	Splice donor variant
rs370972367	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs557166582	G>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs747806672	C>T	Pathogenic	Missense variant, coding sequence variant
rs749688157	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs757233170	T>C	Likely-pathogenic	Splice acceptor variant
rs773885029	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs777022647	C>T	Pathogenic	Missense variant, coding sequence variant
rs780424781	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs797044435	C>T	Pathogenic	Splice donor variant
rs797044436	TCTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797044437	C>T	Pathogenic	Splice donor variant
rs886039348	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs886039564	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041005	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs917638291	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060499610	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793107	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793684	AGCCCTG>CGGGCTCCTCATCA	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs1310296844	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1432041144	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553443360	AA>-	Pathogenic	Stop gained, coding sequence variant
rs1553444895	C>T	Likely-pathogenic	Splice donor variant
rs1553445945	C>T	Pathogenic	Splice donor variant
rs1553448320	C>G	Pathogenic	Coding sequence variant, missense variant
rs1558793621	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1558793736	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558814135	G>AA	Pathogenic	Frameshift variant, coding sequence variant
rs1558814967	AAAGGGGGGTGTTGTGGC>-	Pathogenic	Intron variant
rs1574362082	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT498249	hsa-miR-5197-5p	PAR-CLIP	22291592
MIRT498248	hsa-miR-3665	PAR-CLIP	22291592
MIRT498247	hsa-miR-185-5p	PAR-CLIP	22291592
MIRT498246	hsa-miR-4306	PAR-CLIP	22291592
MIRT498245	hsa-miR-4644	PAR-CLIP	22291592
MIRT498244	hsa-miR-5192	PAR-CLIP	22291592
MIRT498243	hsa-miR-1207-5p	PAR-CLIP	22291592
MIRT498242	hsa-miR-4763-3p	PAR-CLIP	22291592
MIRT498241	hsa-miR-4736	PAR-CLIP	22291592
MIRT498240	hsa-miR-6880-5p	PAR-CLIP	22291592
MIRT498239	hsa-miR-7150	PAR-CLIP	22291592
MIRT443000	hsa-miR-3691-3p	PAR-CLIP	22100165
MIRT442998	hsa-miR-4480	PAR-CLIP	22100165
MIRT442999	hsa-miR-5701	PAR-CLIP	22100165
MIRT442997	hsa-miR-3611	PAR-CLIP	22100165
MIRT498249	hsa-miR-5197-5p	PAR-CLIP	22291592
MIRT498248	hsa-miR-3665	PAR-CLIP	22291592
MIRT498247	hsa-miR-185-5p	PAR-CLIP	22291592
MIRT498246	hsa-miR-4306	PAR-CLIP	22291592
MIRT498245	hsa-miR-4644	PAR-CLIP	22291592
MIRT498244	hsa-miR-5192	PAR-CLIP	22291592
MIRT498243	hsa-miR-1207-5p	PAR-CLIP	22291592
MIRT498242	hsa-miR-4763-3p	PAR-CLIP	22291592
MIRT498241	hsa-miR-4736	PAR-CLIP	22291592
MIRT498240	hsa-miR-6880-5p	PAR-CLIP	22291592
MIRT498239	hsa-miR-7150	PAR-CLIP	22291592
MIRT443000	hsa-miR-3691-3p	PAR-CLIP	22100165
MIRT442998	hsa-miR-4480	PAR-CLIP	22100165
MIRT442999	hsa-miR-5701	PAR-CLIP	22100165
MIRT442997	hsa-miR-3611	PAR-CLIP	22100165
MIRT951984	hsa-miR-1343	CLIP-seq
MIRT951985	hsa-miR-142-3p	CLIP-seq
MIRT951986	hsa-miR-23a	CLIP-seq
MIRT951987	hsa-miR-23b	CLIP-seq
MIRT951988	hsa-miR-23c	CLIP-seq
MIRT951989	hsa-miR-3136-3p	CLIP-seq
MIRT951990	hsa-miR-3190	CLIP-seq
MIRT951991	hsa-miR-3192	CLIP-seq
MIRT951992	hsa-miR-3202	CLIP-seq
MIRT951993	hsa-miR-346	CLIP-seq
MIRT951994	hsa-miR-3647-3p	CLIP-seq
MIRT951995	hsa-miR-3689a-3p	CLIP-seq
MIRT951996	hsa-miR-3689c	CLIP-seq
MIRT951997	hsa-miR-3922-5p	CLIP-seq
MIRT951998	hsa-miR-4254	CLIP-seq
MIRT951999	hsa-miR-4286	CLIP-seq
MIRT952000	hsa-miR-4288	CLIP-seq
MIRT952001	hsa-miR-4303	CLIP-seq
MIRT952002	hsa-miR-4493	CLIP-seq
MIRT952003	hsa-miR-4533	CLIP-seq
MIRT952004	hsa-miR-4652-3p	CLIP-seq
MIRT952005	hsa-miR-4682	CLIP-seq
MIRT952006	hsa-miR-4690-3p	CLIP-seq
MIRT952007	hsa-miR-4691-3p	CLIP-seq
MIRT952008	hsa-miR-4717-3p	CLIP-seq
MIRT952009	hsa-miR-4728-5p	CLIP-seq
MIRT952010	hsa-miR-4753-5p	CLIP-seq
MIRT952011	hsa-miR-4761-5p	CLIP-seq
MIRT952012	hsa-miR-4773	CLIP-seq
MIRT952013	hsa-miR-543	CLIP-seq
MIRT952014	hsa-miR-570	CLIP-seq
MIRT952015	hsa-miR-619	CLIP-seq
MIRT952016	hsa-miR-632	CLIP-seq
MIRT952017	hsa-miR-639	CLIP-seq
MIRT1981931	hsa-miR-1260	CLIP-seq
MIRT1981932	hsa-miR-1260b	CLIP-seq
MIRT1981933	hsa-miR-188-3p	CLIP-seq
MIRT1981934	hsa-miR-3156-3p	CLIP-seq
MIRT1981935	hsa-miR-3182	CLIP-seq
MIRT1981936	hsa-miR-412	CLIP-seq
MIRT1981937	hsa-miR-541	CLIP-seq
MIRT1981938	hsa-miR-616	CLIP-seq
MIRT1981939	hsa-miR-654-5p	CLIP-seq
MIRT1981940	hsa-miR-662	CLIP-seq
MIRT1981941	hsa-miR-759	CLIP-seq
MIRT2216797	hsa-miR-15a	CLIP-seq
MIRT2216798	hsa-miR-15b	CLIP-seq
MIRT2216799	hsa-miR-16	CLIP-seq
MIRT2216800	hsa-miR-195	CLIP-seq
MIRT2216801	hsa-miR-3155	CLIP-seq
MIRT2216802	hsa-miR-3155b	CLIP-seq
MIRT2216803	hsa-miR-3913-3p	CLIP-seq
MIRT2216804	hsa-miR-424	CLIP-seq
MIRT2216805	hsa-miR-4291	CLIP-seq
MIRT2216806	hsa-miR-4448	CLIP-seq
MIRT2216807	hsa-miR-484	CLIP-seq
MIRT2216808	hsa-miR-497	CLIP-seq
MIRT2216809	hsa-miR-545	CLIP-seq
MIRT2216810	hsa-miR-579	CLIP-seq
MIRT2448645	hsa-miR-25	CLIP-seq
MIRT2448646	hsa-miR-298	CLIP-seq
MIRT2448647	hsa-miR-32	CLIP-seq
MIRT2448648	hsa-miR-363	CLIP-seq
MIRT2448649	hsa-miR-367	CLIP-seq
MIRT2448650	hsa-miR-3678-3p	CLIP-seq
MIRT2448651	hsa-miR-4307	CLIP-seq
MIRT2448652	hsa-miR-548a-5p	CLIP-seq
MIRT2448653	hsa-miR-548ab	CLIP-seq
MIRT2448654	hsa-miR-548ak	CLIP-seq
MIRT2448655	hsa-miR-548b-5p	CLIP-seq
MIRT2448656	hsa-miR-548c-5p	CLIP-seq
MIRT2448657	hsa-miR-548d-5p	CLIP-seq
MIRT2448658	hsa-miR-548h	CLIP-seq
MIRT2448659	hsa-miR-548i	CLIP-seq
MIRT2448660	hsa-miR-548j	CLIP-seq
MIRT2448661	hsa-miR-548k	CLIP-seq
MIRT2448662	hsa-miR-548l	CLIP-seq
MIRT2448663	hsa-miR-548w	CLIP-seq
MIRT2448664	hsa-miR-548y	CLIP-seq
MIRT2448665	hsa-miR-559	CLIP-seq
MIRT2448666	hsa-miR-92a	CLIP-seq
MIRT2448667	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001942	Process	Hair follicle development	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	11039935
GO:0004888	Function	Transmembrane signaling receptor activity	NAS	10431241
GO:0005515	Function	Protein binding	IPI	11039935, 27144394
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0008544	Process	Epidermis development	TAS	12270937
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016021	Component	Integral component of membrane	NAS	10431241
GO:0030154	Process	Cell differentiation	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0038023	Function	Signaling receptor activity	IBA	21873635
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043473	Process	Pigmentation	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IBA	21873635
GO:0060662	Process	Salivary gland cavitation	IEA
GO:1901224	Process	Positive regulation of NIK/NF-kappaB signaling	IEA

Other IDs

• MIM: 604095
• HGNC: 2895
• e!Ensembl: ENSG00000135960

Protein

• UniProt ID: Q9UNE0
• Protein name: Tumor necrosis factor receptor superfamily member EDAR (Anhidrotic ectodysplasin receptor 1) (Downless homolog) (EDA-A1 receptor) (Ectodermal dysplasia receptor) (Ectodysplasin-A receptor)
• Protein function: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.
• PDB: 7X9G
• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines.
• Sequence:

  MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSC
  GYGTKDEDYGCVPCPAEKFSKGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGY
  YMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFPGTSGSSTLSPFQHAHKELSG
  QGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPACCTSHPGKSVEAQVSKDEEKK
  EAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDEEPAPDKQGSPEL
  CLLSLVHLAREKSATSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRML
  SSTYNSEKAVVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIER
  LDAVESLCADILEWAGVVPPASQPHAAS

• Sequence length: 448

Pathways

KEGG:

Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway

Reactome:

TNFs bind their physiological receptors

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Ectodermal dysplasia	Ectodermal Dysplasia, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, Ectodermal Dysplasia 3, Anhidrotic, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157	16435307, 10431241, 23401279, 24641098, 20979233, 27657131, 19438931, 16029325, 17125505, 18231121, 22032522, 24884697, 26336973, 15373768, 27305980
Hypohidrotic ectodermal dysplasia	Autosomal recessive hypohidrotic ectodermal dysplasia, Autosomal dominant hypohidrotic ectodermal dysplasia	rs104894415, rs28937872, rs104894416
Hypohidrotic ectodermal dysplasia, x-linked	Christ-Siemens-Touraine syndrome, Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)	rs132630308, rs132630310, rs132630311, rs132630312, rs132630313, rs132630314, rs132630316, rs132630317, rs132630318, rs1569404873, rs1569406514, rs132630321, rs387907197, rs397516654, rs397516656, rs397516657, rs397516659, rs397516660, rs397516661, rs397516662, rs397516664, rs397516665, rs397516666, rs397516667, rs397516668, rs397516670, rs397516671, rs397516672, rs397516675, rs397516676, rs397516677, rs397516679, rs397516681, rs397516682, rs727504814, rs727505013, rs727504417, rs727503008, rs727503011, rs727505089, rs727504537, rs727504649, rs727503007, rs727503010, rs876657640, rs876657685, rs876657684, rs876657686, rs876657641, rs876657642, rs876657687, rs876657639, rs879255551, rs879255552, rs886039344, rs886039347, rs886042021, rs1057517731, rs1057520742, rs1057521131, rs1064793104, rs1064793105, rs749830948, rs1131692034, rs1556110379, rs1555972067, rs1556110934, rs1556039088, rs1556039084, rs1556092261, rs1556098384, rs1556098570, rs1556098733, rs1556110308, rs1556098978, rs886042183, rs1555972071, rs1569404780, rs1569272203, rs1569272528, rs1569384962, rs1569404950, rs1569407150, rs1569407346, rs1569272328, rs1569272194, rs1602618255, rs1602618398, rs1602622972, rs1602624745, rs1602614385, rs780966428, rs1602618442, rs1602625000, rs1602614410, rs1602221405, rs2019017595, rs2020137674, rs2020138975, rs2020139065, rs2020255486, rs2020140911
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Mitochondrial dna depletion syndrome	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)	rs121918307, rs515726185, rs121918308, rs121918309, rs2137715433, rs113994161, rs121908537, rs121908538, rs118192101, rs137854429, rs137854431, rs113994099, rs121918046, rs113994098, rs121918050, rs121918056, rs267606959, rs121909721, rs121909722, rs121909723, rs121909724, rs121913036, rs797044454, rs121913037, rs149977726, rs786205097, rs797044455, rs786205098, rs121913038, rs28931613, rs767245071, rs121913039, rs121913040, rs121913041, rs267607097, rs267607099, rs786205871, rs267607098, rs113994093, rs397507438, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs267607267, rs267607260, rs267607268, rs281865499, rs138439950, rs281865489, rs281865507, rs281865493, rs281865492, rs281865494, rs137886900, rs281865501, rs201889294, rs398123060, rs398123061, rs398123062, rs515726180, rs515726181, rs515726196, rs201732356, rs796052888, rs200440128, rs797046017, rs777604559, rs138479499, rs863224914, rs1064792855, rs1054084896, rs1064792857, rs1064792858, rs749827433, rs891107196, rs1064792860, rs1064792861, rs1064792862, rs199901350, rs1064792863, rs1064792864, rs1064792865, rs1064792866, rs1064792867, rs1064792868, rs1064792870, rs866001342, rs1064792872, rs892141220, rs1060499532, rs1060499534, rs1064792874, rs764275775, rs11479, rs1064792876, rs770277446, rs1064792877, rs1064792878, rs1064792879, rs773785934, rs1064792880, rs1064792881, rs1556486467, rs1556486029, rs1064792885, rs1064792886, rs1064792887, rs1064792888, rs1060499535, rs1064792889, rs1064792890, rs1064792891, rs1064792892, rs772037717, rs879255542, rs878853112, rs765882664, rs886041625, rs139590686, rs766160589, rs1057519447, rs375401970, rs886044113, rs749361266, rs1064793178, rs1554215766, rs751656896, rs747618415, rs1554215804, rs1554215959, rs1554215964, rs1554215986, rs1443104983, rs1411907961, rs1227524799, rs1554216735, rs750973870, rs1554218789, rs754142863, rs758395213, rs773850151, rs1554218821, rs1187832552, rs1554219474, rs775768793, rs368965675, rs1257765682, rs1394080480, rs1554221189, rs1554221191, rs964532159, rs1350566881, rs1554221258, rs1345325140, rs761902417, rs767543583, rs761974928, rs761215749, rs1554222122, rs1554222130, rs766892502, rs747536886, rs1182326570, rs1556488264, rs761665644, rs775576189, rs1354582663, rs1423840146, rs113055360, rs1553383467, rs1553383480, rs1057524366, rs1471478620, rs796052053, rs775445970, rs1011464708, rs140992482, rs1308442327, rs1369567672, rs750388794, rs1180285291, rs1572542092, rs764792655, rs1582402094, rs1584622847, rs1572543564, rs1572542511, rs200938111, rs772370243, rs1572555080, rs1582425360, rs1251044974, rs1573369925, rs1573374828, rs1582425406, rs1593479845, rs1582367960, rs1203886148, rs1573369929, rs1389068504, rs765023287, rs1587178460, rs1587186073, rs761608162, rs760629248, rs1052593047, rs972696428

Unknown
Disease term	Disease name	Evidence	References	Source
Acne	Acne			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	29246834
Anodontia	Associate	22581971, 23549991, 23991204, 24884697, 28808699, 31652981, 33205897, 33943035
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	35749392
Conjunctivitis Allergic	Inhibit	38064228
Deafness oligodontia syndrome	Associate	34593752
Dental Caries	Associate	24884697
Diabetes Mellitus	Associate	34618839
Disease	Associate	35749392
Ectodermal Dysplasia	Associate	18854857, 22581971, 26336973, 30974434, 34573371, 39244550
Ectodermal Dysplasia 1 Anhidrotic	Associate	15373768, 17125505, 19804850, 24884697, 31452656, 31652981, 33205897, 36448232, 39476951
Ectodermal Dysplasia 3 Anhidrotic	Associate	17125505, 9545409
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Associate	30974434
Fibula Fractures	Associate	26336973
Hair Diseases	Associate	26336973
Hereditary renal agenesis	Associate	39476951
Intellectual Disability	Associate	18854857
Metabolic Syndrome	Associate	34618839
Nail Diseases	Associate	36421794
Nails Malformed	Associate	36421794
Nasopharyngeal Carcinoma	Associate	26738743
Neural crest tumor	Associate	31796081
Osteogenesis Imperfecta	Associate	36421794
Prediabetic State	Associate	34618839
Sepsis	Associate	29885947
Sjogren's Syndrome	Associate	26724675
Skin Hair Eye Pigmentation Variation In 6	Associate	21712187
Sweat Gland Diseases	Associate	24884697
Systemic Inflammatory Response Syndrome	Associate	29885947