EDA (ectodysplasin A)

Gene

• Entrez ID: 1896
• Gene name: Ectodysplasin A
• Gene symbol: EDA
• Synonyms: ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs132630308	T>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs132630309	G>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs132630310	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs132630311	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs132630312	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630313	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630314	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630315	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630316	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630317	G>A,T	Pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs132630318	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs132630319	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs132630320	C>G	Pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs132630321	C>T	Pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs142948132	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs387907197	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397516654	T>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs397516656	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs397516657	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516659	T>C	Pathogenic	Non coding transcript variant, missense variant, initiator codon variant
rs397516660	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs397516661	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs397516662	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397516665	TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs397516666	AATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCC>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs397516667	CCAGGACCCCCAGGACCTCCAGGACCCC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397516668	CAGGACCTCCAGGACCCC>-,CAGGACCTCCAGGACCCCCAGGACCTCCAGGACCCC	Pathogenic	Genic downstream transcript variant, inframe insertion, inframe deletion, coding sequence variant
rs397516670	TCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397516671	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397516672	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs397516675	G>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs397516676	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397516677	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397516679	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs397516681	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs397516682	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant
rs483352804	G>A,T	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs727503007	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs727503008	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs727503009	A>G,T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs727503010	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs727503011	C>T	Pathogenic	Genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs727504417	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs727504537	G>A	Pathogenic	Splice donor variant
rs727504649	A>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs727504750	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs727504814	T>C,G	Pathogenic	Splice donor variant
rs727505013	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs727505089	->GGGT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs749830948	G>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs780582849	C>A,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, synonymous variant
rs780966428	G>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs781394318	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs876657639	C>T	Pathogenic-likely-pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs876657640	A>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs876657641	G>A,C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs876657642	A>C	Likely-pathogenic	Intron variant, missense variant, genic downstream transcript variant, coding sequence variant
rs876657684	->GGGC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs876657685	ACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACC>-	Pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs876657686	CAGGTCCTCCTGGTCCTC>-	Pathogenic, pathogenic-likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs876657687	T>C,G	Pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs879255551	C>T	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs879255552	A>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs879255611	C>A,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886039344	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886039347	C>T	Uncertain-significance, pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs886039466	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042021	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886042183	G>A,T	Uncertain-significance, pathogenic	Synonymous variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1057517731	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057517882	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057517971	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057518211	A>C	Likely-pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1057520742	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057521131	G>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064793104	GATTCCTGGAATTCCAGG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs1064793105	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064793106	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1085307599	T>C	Likely-pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1131691566	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs1131692034	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1555972067	CCGCCTT>AA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555972071	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555972137	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556098384	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556098553	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556098570	C>-,CC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556098733	G>C,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs1556098806	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1556098978	ACCCCCTGGCCTCCAGG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556110195	TATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGC>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, downstream transcript variant, coding sequence variant
rs1556110379	C>G	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs1556110934	C>TCAAGATGG	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant
rs1569272194	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569272328	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569272528	->A	Pathogenic	Intron variant
rs1569384962	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569404780	A>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569404873	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569406514	->TA	Pathogenic	Coding sequence variant, frameshift variant, intron variant, genic downstream transcript variant
rs1569407346	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1602221405	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602564282	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602618442	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602624745	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1602625000	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051411	hsa-let-7f-5p	CLASH	23622248
MIRT951892	hsa-let-7a	CLIP-seq
MIRT951893	hsa-let-7b	CLIP-seq
MIRT951894	hsa-let-7c	CLIP-seq
MIRT951895	hsa-let-7d	CLIP-seq
MIRT951896	hsa-let-7e	CLIP-seq
MIRT951897	hsa-let-7f	CLIP-seq
MIRT951898	hsa-let-7g	CLIP-seq
MIRT951899	hsa-let-7i	CLIP-seq
MIRT951900	hsa-miR-1247	CLIP-seq
MIRT951901	hsa-miR-1260	CLIP-seq
MIRT951902	hsa-miR-1260b	CLIP-seq
MIRT951903	hsa-miR-1299	CLIP-seq
MIRT951904	hsa-miR-130a	CLIP-seq
MIRT951905	hsa-miR-130b	CLIP-seq
MIRT951906	hsa-miR-1324	CLIP-seq
MIRT951907	hsa-miR-188-3p	CLIP-seq
MIRT951908	hsa-miR-301a	CLIP-seq
MIRT951909	hsa-miR-301b	CLIP-seq
MIRT951910	hsa-miR-3065-5p	CLIP-seq
MIRT951911	hsa-miR-3121-5p	CLIP-seq
MIRT951912	hsa-miR-3156-3p	CLIP-seq
MIRT951913	hsa-miR-3160-5p	CLIP-seq
MIRT951914	hsa-miR-3176	CLIP-seq
MIRT951915	hsa-miR-326	CLIP-seq
MIRT951916	hsa-miR-330-5p	CLIP-seq
MIRT951917	hsa-miR-3591-5p	CLIP-seq
MIRT951918	hsa-miR-3666	CLIP-seq
MIRT951919	hsa-miR-3689d	CLIP-seq
MIRT951920	hsa-miR-370	CLIP-seq
MIRT951921	hsa-miR-3922-3p	CLIP-seq
MIRT951922	hsa-miR-4257	CLIP-seq
MIRT951923	hsa-miR-4287	CLIP-seq
MIRT951924	hsa-miR-4295	CLIP-seq
MIRT951925	hsa-miR-4301	CLIP-seq
MIRT951926	hsa-miR-4330	CLIP-seq
MIRT951927	hsa-miR-4421	CLIP-seq
MIRT951928	hsa-miR-4458	CLIP-seq
MIRT951929	hsa-miR-4473	CLIP-seq
MIRT951930	hsa-miR-4500	CLIP-seq
MIRT951931	hsa-miR-454	CLIP-seq
MIRT951932	hsa-miR-4670-3p	CLIP-seq
MIRT951933	hsa-miR-4671-3p	CLIP-seq
MIRT951934	hsa-miR-4685-3p	CLIP-seq
MIRT951935	hsa-miR-4768-5p	CLIP-seq
MIRT951936	hsa-miR-4782-5p	CLIP-seq
MIRT951937	hsa-miR-4789-3p	CLIP-seq
MIRT951938	hsa-miR-495	CLIP-seq
MIRT951939	hsa-miR-516b	CLIP-seq
MIRT951940	hsa-miR-98	CLIP-seq
MIRT951941	hsa-miR-1323	CLIP-seq
MIRT951942	hsa-miR-3921	CLIP-seq
MIRT951943	hsa-miR-4653-5p	CLIP-seq
MIRT951944	hsa-miR-4714-5p	CLIP-seq
MIRT951945	hsa-miR-548g	CLIP-seq
MIRT951946	hsa-miR-548o	CLIP-seq
MIRT951947	hsa-miR-582-3p	CLIP-seq
MIRT951892	hsa-let-7a	CLIP-seq
MIRT951893	hsa-let-7b	CLIP-seq
MIRT951894	hsa-let-7c	CLIP-seq
MIRT951895	hsa-let-7d	CLIP-seq
MIRT951896	hsa-let-7e	CLIP-seq
MIRT951897	hsa-let-7f	CLIP-seq
MIRT951898	hsa-let-7g	CLIP-seq
MIRT951899	hsa-let-7i	CLIP-seq
MIRT1981896	hsa-miR-1	CLIP-seq
MIRT1981897	hsa-miR-103a	CLIP-seq
MIRT1981898	hsa-miR-107	CLIP-seq
MIRT1981899	hsa-miR-15a	CLIP-seq
MIRT1981900	hsa-miR-15b	CLIP-seq
MIRT1981901	hsa-miR-16	CLIP-seq
MIRT1981902	hsa-miR-194	CLIP-seq
MIRT1981903	hsa-miR-195	CLIP-seq
MIRT1981904	hsa-miR-205	CLIP-seq
MIRT1981905	hsa-miR-206	CLIP-seq
MIRT1981906	hsa-miR-3673	CLIP-seq
MIRT1981907	hsa-miR-3692	CLIP-seq
MIRT951920	hsa-miR-370	CLIP-seq
MIRT1981908	hsa-miR-3978	CLIP-seq
MIRT1981909	hsa-miR-424	CLIP-seq
MIRT951922	hsa-miR-4257	CLIP-seq
MIRT1981910	hsa-miR-4279	CLIP-seq
MIRT1981911	hsa-miR-4434	CLIP-seq
MIRT951928	hsa-miR-4458	CLIP-seq
MIRT951930	hsa-miR-4500	CLIP-seq
MIRT1981912	hsa-miR-4516	CLIP-seq
MIRT1981913	hsa-miR-4531	CLIP-seq
MIRT1981914	hsa-miR-4659a-5p	CLIP-seq
MIRT1981915	hsa-miR-4659b-5p	CLIP-seq
MIRT1981916	hsa-miR-4688	CLIP-seq
MIRT951935	hsa-miR-4768-5p	CLIP-seq
MIRT1981917	hsa-miR-4769-3p	CLIP-seq
MIRT1981918	hsa-miR-4790-3p	CLIP-seq
MIRT1981919	hsa-miR-497	CLIP-seq
MIRT1981920	hsa-miR-513a-5p	CLIP-seq
MIRT1981921	hsa-miR-613	CLIP-seq
MIRT1981922	hsa-miR-802	CLIP-seq
MIRT1981923	hsa-miR-877	CLIP-seq
MIRT951940	hsa-miR-98	CLIP-seq
MIRT1981911	hsa-miR-4434	CLIP-seq
MIRT1981912	hsa-miR-4516	CLIP-seq
MIRT1981913	hsa-miR-4531	CLIP-seq
MIRT951892	hsa-let-7a	CLIP-seq
MIRT951893	hsa-let-7b	CLIP-seq
MIRT951894	hsa-let-7c	CLIP-seq
MIRT951895	hsa-let-7d	CLIP-seq
MIRT951896	hsa-let-7e	CLIP-seq
MIRT951897	hsa-let-7f	CLIP-seq
MIRT951898	hsa-let-7g	CLIP-seq
MIRT951899	hsa-let-7i	CLIP-seq
MIRT2216790	hsa-miR-1245b-5p	CLIP-seq
MIRT2216791	hsa-miR-3142	CLIP-seq
MIRT951914	hsa-miR-3176	CLIP-seq
MIRT2216792	hsa-miR-3183	CLIP-seq
MIRT951921	hsa-miR-3922-3p	CLIP-seq
MIRT951922	hsa-miR-4257	CLIP-seq
MIRT2216793	hsa-miR-4312	CLIP-seq
MIRT1981911	hsa-miR-4434	CLIP-seq
MIRT951928	hsa-miR-4458	CLIP-seq
MIRT951930	hsa-miR-4500	CLIP-seq
MIRT1981912	hsa-miR-4516	CLIP-seq
MIRT1981913	hsa-miR-4531	CLIP-seq
MIRT2216794	hsa-miR-4650-5p	CLIP-seq
MIRT2216795	hsa-miR-4690-5p	CLIP-seq
MIRT2216796	hsa-miR-4723-3p	CLIP-seq
MIRT951940	hsa-miR-98	CLIP-seq
MIRT951892	hsa-let-7a	CLIP-seq
MIRT951893	hsa-let-7b	CLIP-seq
MIRT951894	hsa-let-7c	CLIP-seq
MIRT951895	hsa-let-7d	CLIP-seq
MIRT951896	hsa-let-7e	CLIP-seq
MIRT951897	hsa-let-7f	CLIP-seq
MIRT951898	hsa-let-7g	CLIP-seq
MIRT951899	hsa-let-7i	CLIP-seq
MIRT951922	hsa-miR-4257	CLIP-seq
MIRT1981911	hsa-miR-4434	CLIP-seq
MIRT951928	hsa-miR-4458	CLIP-seq
MIRT951930	hsa-miR-4500	CLIP-seq
MIRT1981912	hsa-miR-4516	CLIP-seq
MIRT1981913	hsa-miR-4531	CLIP-seq
MIRT951940	hsa-miR-98	CLIP-seq
MIRT951914	hsa-miR-3176	CLIP-seq
MIRT951921	hsa-miR-3922-3p	CLIP-seq
MIRT2465189	hsa-miR-4468	CLIP-seq
MIRT2465190	hsa-miR-4494	CLIP-seq
MIRT2465191	hsa-miR-4771	CLIP-seq
MIRT2465192	hsa-miR-624	CLIP-seq
MIRT2520769	hsa-miR-141	CLIP-seq
MIRT2520770	hsa-miR-200a	CLIP-seq
MIRT2520771	hsa-miR-4734	CLIP-seq
MIRT951935	hsa-miR-4768-5p	CLIP-seq
MIRT2520772	hsa-miR-486-3p	CLIP-seq
MIRT2679735	hsa-miR-1200	CLIP-seq
MIRT2679736	hsa-miR-1207-5p	CLIP-seq
MIRT2520769	hsa-miR-141	CLIP-seq
MIRT2679737	hsa-miR-1827	CLIP-seq
MIRT2520770	hsa-miR-200a	CLIP-seq
MIRT2679738	hsa-miR-4324	CLIP-seq
MIRT2679739	hsa-miR-4514	CLIP-seq
MIRT2679740	hsa-miR-4645-5p	CLIP-seq
MIRT2679741	hsa-miR-4649-3p	CLIP-seq
MIRT2679742	hsa-miR-4673	CLIP-seq
MIRT2679743	hsa-miR-4692	CLIP-seq
MIRT2679744	hsa-miR-4763-3p	CLIP-seq
MIRT951935	hsa-miR-4768-5p	CLIP-seq
MIRT2520772	hsa-miR-486-3p	CLIP-seq
MIRT2679745	hsa-miR-544b	CLIP-seq
MIRT2679746	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LEF1	Unknown	12039047

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IDA	11039935
GO:0005123	Function	Death receptor binding	IBA	21873635
GO:0005164	Function	Tumor necrosis factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	11039935, 11780064, 24722188, 25416956, 25910212, 31515488, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005811	Component	Lipid droplet	IDA
GO:0005856	Component	Cytoskeleton	TAS	10484778
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0006955	Process	Immune response	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	TAS	8696334
GO:0016021	Component	Integral component of membrane	TAS	8696334
GO:0030154	Process	Cell differentiation	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0038177	Function	Death receptor agonist activity	IBA	21873635
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IMP	27144394
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043473	Process	Pigmentation	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0048018	Function	Receptor ligand activity	IBA	21873635
GO:0048513	Process	Animal organ development	IBA	21873635
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	11039935
GO:0060662	Process	Salivary gland cavitation	IEA
GO:0060789	Process	Hair follicle placode formation	IEA
GO:0061153	Process	Trachea gland development	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA

Other IDs

• MIM: 300451
• HGNC: 3157
• e!Ensembl: ENSG00000158813

Protein

• UniProt ID: Q92838
• Protein name: Ectodysplasin-A (Ectodermal dysplasia protein) (EDA protein) [Cleaved into: Ectodysplasin-A, membrane form; Ectodysplasin-A, secreted form]
• Protein function: Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:11039935, PubMed:27144394, PubMed:34582123, P
• PDB: 1RJ7, 1RJ8, 7X9G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00229	TNF	272 → 385	TNF(Tumour Necrosis Factor) family	Domain

• Sequence:

  MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCC
  YLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGE
  AALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRSKSNEGADGPVKNKKKGKKAG
  PPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
  AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGT
  YFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKI
  AVKMVHADISINMSKHTTFFGAIRLGEAPAS

• Sequence length: 391

Pathways

KEGG:

Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway

Reactome:

TNFs bind their physiological receptors

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Ectodermal dysplasia	Ectodermal Dysplasia	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
Hypertension	Hypertensive disease	rs13306026, rs13333226
Hypohidrotic ectodermal dysplasia	Anhydrotic Ectodermal Dysplasias	rs104894415, rs28937872, rs104894416
Hypohidrotic ectodermal dysplasia, x-linked	X-linked hypohidrotic ectodermal dysplasia, Christ-Siemens-Touraine syndrome	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	18231121, 20979233, 22008666, 11416205, 27305980, 11378824, 12949972, 12932274, 8696334, 20486090, 24312213, 21357618, 9507389, 11309369, 22428923, 12225002, 11295832, 18386312, 9683615, 27657131, 18076698, 19127222, 10469321, 17970812, 9736768, 9630076, 23553579, 22032522, 24724966, 19623212, 22350046, 21457804, 20236127, 17256800, 19438931, 15663448, 23991204, 26753551, 27144394, 18666859, 26273176, 27054699, 23744313, 22875504, 24487376, 11279189, 23926003, 10951256, 11343303, 18821982, 16583127, 18510547, 19278982, 14656435, 25333067
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
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	22535842
Oligodontia	Oligodontia	rs1591901585
Tooth agenesis, x-linked	Tooth Agenesis, Selective, X-Linked, 1	rs132630319, rs132630320, rs132630321, rs397516654, rs397516668, rs879255611, rs879255551, rs1064793104, rs1569272328	16583127, 19278982, 23625373, 23603338, 18657636, 27144394, 24487376

Unknown
Disease name	Disease term	dbSNP ID	References
Absent eyebrow	Absent eyebrow
Anhidrosis	Anhidrosis
Anodontia	Developmental absence of tooth
Congenital absent nipple	Congenital absent nipple
Congenital hypotrichia	Congenital hypotrichia
Eczema	Eczema
Frontal bossing	Frontal bossing
Hypodontia	Hypodontia		19623212, 19278982, 24487376
Hypohidrosis	Hypohidrosis
Hypopituitarism	Anterior hypopituitarism
Hypoplasia of nipple	Hypoplasia of nipple
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Microdontia	Microdontia (disorder)
Micrognathism	Micrognathism
Peg-shaped teeth	Peg-shaped teeth
Rhinitis	Rhinitis
Taurodontism	Taurodontism