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Protein

Ectodysplasin-A

Gene

EDA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity).By similarity3 Publications
Isoform 1: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.2 Publications
Isoform 3: Binds only to the receptor EDA2R.2 Publications

GO - Molecular functioni

  • death receptor agonist activity Source: UniProtKB
  • death receptor binding Source: UniProtKB
  • receptor binding Source: HGNC

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000158813-MONOMER.
ReactomeiR-HSA-5669034. TNFs bind their physiological receptors.
SIGNORiQ92838.

Names & Taxonomyi

Protein namesi
Recommended name:
Ectodysplasin-A
Alternative name(s):
Ectodermal dysplasia protein
Short name:
EDA protein
Cleaved into the following 2 chains:
Gene namesi
Name:EDA
Synonyms:ED1, EDA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:3157. EDA.

Subcellular locationi

  • Cell membrane By similarity; Single-pass type II membrane protein By similarity
Ectodysplasin-A, secreted form :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 41CytoplasmicSequence analysisAdd BLAST41
Transmembranei42 – 62Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini63 – 391ExtracellularSequence analysisAdd BLAST329

GO - Cellular componenti

  • apical part of cell Source: Ensembl
  • collagen trimer Source: UniProtKB-KW
  • cytoskeleton Source: ProtInc
  • endoplasmic reticulum membrane Source: Ensembl
  • extracellular region Source: UniProtKB-SubCell
  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: Ensembl
  • intracellular membrane-bounded organelle Source: HPA
  • membrane Source: ProtInc
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)23 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias.
See also OMIM:305100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07531051L → Q in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_01061154H → Y in XHED. 1 Publication1
Natural variantiVAR_01061255L → R in XHED. 1 Publication1
Natural variantiVAR_01348460C → R in XHED. 1 Publication1
Natural variantiVAR_00517961Y → H in XHED. 1 PublicationCorresponds to variant rs132630308dbSNPEnsembl.1
Natural variantiVAR_00518063E → K in XHED. 1 PublicationCorresponds to variant rs132630311dbSNPEnsembl.1
Natural variantiVAR_00518169R → L in XHED. 1 PublicationCorresponds to variant rs132630309dbSNPEnsembl.1
Natural variantiVAR_075311125S → C in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_075312132Q → P in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054454153R → C in XHED; abolishes proteolytic processing. 4 PublicationsCorresponds to variant rs397516662dbSNPEnsembl.1
Natural variantiVAR_075313153R → H in XHED; unknown pathological significance. 1 PublicationCorresponds to variant rs140642493dbSNPEnsembl.1
Natural variantiVAR_005182155R → C in XHED; abolishes proteolytic processing. 7 PublicationsCorresponds to variant rs132630312dbSNPEnsembl.1
Natural variantiVAR_005183156R → C in XHED; abolishes proteolytic processing. 6 PublicationsCorresponds to variant rs132630313dbSNPEnsembl.1
Natural variantiVAR_064858156R → G in XHED. 1 Publication1
Natural variantiVAR_005184156R → H in XHED; abolishes proteolytic processing. 7 PublicationsCorresponds to variant rs132630314dbSNPEnsembl.1
Natural variantiVAR_054455156R → S in XHED. 1 Publication1
Natural variantiVAR_054456158K → N in XHED; abolishes proteolytic processing. 2 PublicationsCorresponds to variant rs727504649dbSNPEnsembl.1
Natural variantiVAR_054457183 – 194Missing in XHED. 3 PublicationsAdd BLAST12
Natural variantiVAR_054458184 – 189Missing in XHED. 1 Publication6
Natural variantiVAR_054459185 – 196Missing in XHED. 3 PublicationsAdd BLAST12
Natural variantiVAR_054460189G → E in XHED. 1 Publication1
Natural variantiVAR_054461191 – 196Missing in XHED. 2 Publications6
Natural variantiVAR_064859192 – 197Missing in XHED. 1 Publication6
Natural variantiVAR_075314193 – 201Missing in XHED; unknown pathological significance. 1 Publication9
Natural variantiVAR_054462198G → A in XHED. 1 Publication1
Natural variantiVAR_054463207G → R in XHED. 1 Publication1
Natural variantiVAR_064860207G → V in XHED. 1 Publication1
Natural variantiVAR_005185209P → L in XHED. 1 PublicationCorresponds to variant rs132630315dbSNPEnsembl.1
Natural variantiVAR_064861211T → R in XHED. 1 Publication1
Natural variantiVAR_054465218 – 223Missing in XHED. 1 Publication6
Natural variantiVAR_054464218G → D in XHED. 1 Publication1
Natural variantiVAR_075315219 – 230Missing in XHED; unknown pathological significance. 1 PublicationAdd BLAST12
Natural variantiVAR_005186224G → A in XHED. 1 PublicationCorresponds to variant rs132630316dbSNPEnsembl.1
Natural variantiVAR_005187252H → L in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_013485252H → Y in XHED. 1 Publication1
Natural variantiVAR_011077255G → C in XHED. 1 Publication1
Natural variantiVAR_011078255G → D in XHED; mild. 1 Publication1
Natural variantiVAR_064862266L → R in XHED. 1 Publication1
Natural variantiVAR_013486269G → V in XHED. 1 Publication1
Natural variantiVAR_011079274W → G in XHED. 2 Publications1
Natural variantiVAR_064863274W → R in XHED. 1 Publication1
Natural variantiVAR_010613291G → R in XHED. 4 PublicationsCorresponds to variant rs397516677dbSNPEnsembl.1
Natural variantiVAR_010614291G → W in XHED. 1 Publication1
Natural variantiVAR_064864293L → P in XHED. 1 Publication1
Natural variantiVAR_064865296L → V in XHED. 1 Publication1
Natural variantiVAR_010615298D → H in XHED. 1 Publication1
Natural variantiVAR_054466298D → Y in XHED. 1 Publication1
Natural variantiVAR_064866299G → D in XHED. 1 Publication1
Natural variantiVAR_005188299G → S in XHED. 4 PublicationsCorresponds to variant rs397516679dbSNPEnsembl.1
Natural variantiVAR_013487302F → S in XHED. 1 Publication1
Natural variantiVAR_075316304Y → H in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054467306Q → H in XHED. 1 Publication1
Natural variantiVAR_054468307V → G in XHED. 1 Publication1
Natural variantiVAR_075317316D → E in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_067319319S → R in XHED. 2 Publications1
Natural variantiVAR_054469320Y → C in XHED. 1 Publication1
Natural variantiVAR_064867323V → G in XHED. 1 Publication1
Natural variantiVAR_075318332C → F in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_011080332C → Y in XHED. 1 Publication1
Natural variantiVAR_054470343Y → C in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_064869346C → Y in XHED. 1 Publication1
Natural variantiVAR_005189349A → T in XHED. 4 PublicationsCorresponds to variant rs132630317dbSNPEnsembl.1
Natural variantiVAR_075319350G → D in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_067250354L → P in XHED. 1 Publication1
Natural variantiVAR_005190356A → D in XHED. 1 Publication1
Natural variantiVAR_064870356A → V in XHED. 1 Publication1
Natural variantiVAR_005191357R → P in XHED. 1 Publication1
Natural variantiVAR_054471358Q → E in XHED. 1 PublicationCorresponds to variant rs132630320dbSNPEnsembl.1
Natural variantiVAR_075320358Q → H in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054472360I → N in XHED. 1 Publication1
Natural variantiVAR_054473372N → D in XHED. 1 Publication1
Natural variantiVAR_054474373M → I in XHED. 1 Publication1
Natural variantiVAR_054475374S → R in XHED; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_013488378T → M in XHED. 3 Publications1
Natural variantiVAR_054476378T → P in XHED. 1 Publication1
Natural variantiVAR_064871381G → R in XHED. 1 Publication1
Natural variantiVAR_075321381G → V in XHED; unknown pathological significance. 1 Publication1
Tooth agenesis, selective, X-linked, 1 (STHAGX1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).
See also OMIM:313500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02953465R → G in STHAGX1. 1 PublicationCorresponds to variant rs132630319dbSNPEnsembl.1
Natural variantiVAR_071454259A → E in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_071455260I → S in STHAGX1. 1 Publication1
Natural variantiVAR_071456289R → C in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_071457289R → L in STHAGX1. 1 Publication1
Natural variantiVAR_071458334R → H in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant rs142948132dbSNPEnsembl.1
Natural variantiVAR_064868338T → M in STHAGX1. 1 PublicationCorresponds to variant rs132630321dbSNPEnsembl.1
Natural variantiVAR_071459379F → V in STHAGX1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi159R → A: Abolishes proteolytic processing. 1 Publication1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNETi1896.
MalaCardsiEDA.
MIMi305100. phenotype.
313500. phenotype.
OpenTargetsiENSG00000158813.
Orphaneti2227. Hypodontia.
99798. Oligodontia.
181. X-linked hypohidrotic ectodermal dysplasia.
PharmGKBiPA27601.

Polymorphism and mutation databases

BioMutaiEDA.
DMDMi6166135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000345381 – 391Ectodysplasin-A, membrane formAdd BLAST391
ChainiPRO_0000034539160 – 391Ectodysplasin-A, secreted form1 PublicationAdd BLAST232

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi313N-linked (GlcNAc...)Sequence analysis1
Glycosylationi372N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.By similarity
Processing by furin produces a secreted form.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei159 – 160Cleavage; by furin1 Publication2

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

PaxDbiQ92838.
PeptideAtlasiQ92838.
PRIDEiQ92838.

PTM databases

iPTMnetiQ92838.
PhosphoSitePlusiQ92838.

Miscellaneous databases

PMAP-CutDBQ92838.

Expressioni

Tissue specificityi

Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord.1 Publication

Gene expression databases

BgeeiENSG00000158813.
ExpressionAtlasiQ92838. baseline and differential.
GenevisibleiQ92838. HS.

Organism-specific databases

HPAiHPA037972.
HPA037973.

Interactioni

Subunit structurei

Homotrimer. The homotrimers may then dimerize and form higher-order oligomers.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ATP6V0CP274493EBI-529425,EBI-721179
CYB561P494473EBI-529425,EBI-8646596
DOLKQ9UPQ85EBI-529425,EBI-8645574
EMP3P548525EBI-529425,EBI-3907816
GIMAP5Q96F153EBI-529425,EBI-6166686
LEPROTL1Q6FHL73EBI-529425,EBI-10249700
MALP211453EBI-529425,EBI-3932027
NIPAL3Q6P4995EBI-529425,EBI-10252783
OSTCQ9NRP03EBI-529425,EBI-1044658
OSTCLQ8TBU15EBI-529425,EBI-10273677
PLNP266785EBI-529425,EBI-692836
SEC22AQ96IW75EBI-529425,EBI-8652744

GO - Molecular functioni

  • death receptor agonist activity Source: UniProtKB
  • death receptor binding Source: UniProtKB
  • receptor binding Source: HGNC

Protein-protein interaction databases

BioGridi108224. 70 interactors.
IntActiQ92838. 22 interactors.
STRINGi9606.ENSP00000363680.

Structurei

Secondary structure

1391
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi249 – 254Combined sources6
Beta strandi257 – 261Combined sources5
Helixi262 – 264Combined sources3
Helixi266 – 269Combined sources4
Beta strandi275 – 279Combined sources5
Turni281 – 283Combined sources3
Beta strandi284 – 286Combined sources3
Turni288 – 290Combined sources3
Beta strandi293 – 295Combined sources3
Beta strandi299 – 305Combined sources7
Beta strandi308 – 316Combined sources9
Beta strandi318 – 324Combined sources7
Beta strandi327 – 336Combined sources10
Beta strandi338 – 340Combined sources3
Beta strandi342 – 354Combined sources13
Beta strandi359 – 364Combined sources6
Beta strandi370 – 372Combined sources3
Turni375 – 377Combined sources3
Beta strandi378 – 386Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1RJ7X-ray2.30A/B/D/E/F/G/H/I/J/K/L/M233-391[»]
1RJ8X-ray2.23A/B/D/E/F/G230-389[»]
DisProtiDP00460.
ProteinModelPortaliQ92838.
SMRiQ92838.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ92838.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini180 – 229Collagen-likeAdd BLAST50

Sequence similaritiesi

Belongs to the tumor necrosis factor family.Curated
Contains 1 collagen-like domain.Curated

Keywords - Domaini

Collagen, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IH6U. Eukaryota.
ENOG41121ZD. LUCA.
GeneTreeiENSGT00730000111220.
HOVERGENiHBG005564.
InParanoidiQ92838.
KOiK05480.
OMAiDEKPYSE.
OrthoDBiEOG091G0GBQ.
PhylomeDBiQ92838.
TreeFamiTF332099.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiIPR006052. TNF_dom.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view]
PfamiPF00229. TNF. 1 hit.
[Graphical view]
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiPS50049. TNF_2. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q92838-1) [UniParc]FASTAAdd to basket
Also known as: A1, II, EDA11 Publication

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGYPEVERRE LLPAAAPRER GSQGCGCGGA PARAGEGNSC LLFLGFFGLS
60 70 80 90 100
LALHLLTLCC YLELRSELRR ERGAESRLGG SGTPGTSGTL SSLGGLDPDS
110 120 130 140 150
PITSHLGQPS PKQQPLEPGE AALHSDSQDG HQMALLNFFF PDEKPYSEEE
160 170 180 190 200
SRRVRRNKRS KSNEGADGPV KNKKKGKKAG PPGPNGPPGP PGPPGPQGPP
210 220 230 240 250
GIPGIPGIPG TTVMGPPGPP GPPGPQGPPG LQGPSGAADK AGTRENQPAV
260 270 280 290 300
VHLQGQGSAI QVKNDLSGGV LNDWSRITMN PKVFKLHPRS GELEVLVDGT
310 320 330 340 350
YFIYSQVEVY YINFTDFASY EVVVDEKPFL QCTRSIETGK TNYNTCYTAG
360 370 380 390
VCLLKARQKI AVKMVHADIS INMSKHTTFF GAIRLGEAPA S
Length:391
Mass (Da):41,294
Last modified:July 15, 1999 - v2
Checksum:i15DB3F5053293CBA
GO
Isoform 2 (identifier: Q92838-2) [UniParc]FASTAAdd to basket
Also known as: I

The sequence of this isoform differs from the canonical sequence as follows:
     133-135: MAL → GHQ
     136-391: Missing.

Show »
Length:135
Mass (Da):14,048
Checksum:i90C19D0674EC540D
GO
Isoform 3 (identifier: Q92838-3) [UniParc]FASTAAdd to basket
Also known as: A2, EDA21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     307-308: Missing.

Show »
Length:389
Mass (Da):41,065
Checksum:i9289F3104CD83454
GO
Isoform 4 (identifier: Q92838-5) [UniParc]FASTAAdd to basket
Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     133-147: MALLNFFFPDEKPYS → VSHLVGAAAAPSPRG
     148-391: Missing.

Show »
Length:147
Mass (Da):15,097
Checksum:i4B46D2AF7EF8063D
GO
Isoform 5 (identifier: Q92838-6) [UniParc]FASTAAdd to basket
Also known as: D

The sequence of this isoform differs from the canonical sequence as follows:
     133-142: MALLNFFFPD → ACFPQVLLSL
     143-391: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:142
Mass (Da):14,798
Checksum:iC0ACDCC07BE70D7F
GO
Isoform 6 (identifier: Q92838-7) [UniParc]FASTAAdd to basket
Also known as: E

The sequence of this isoform differs from the canonical sequence as follows:
     133-147: MALLNFFFPDEKPYS → DFDYIISFSYGLQGFC
     148-391: Missing.

Show »
Length:148
Mass (Da):15,582
Checksum:iB4473D0DBEFFD289
GO
Isoform 7 (identifier: Q92838-8) [UniParc]FASTAAdd to basket
Also known as: F

The sequence of this isoform differs from the canonical sequence as follows:
     133-147: MALLNFFFPDEKPYS → LHVSFSLRKKKAGHQ
     148-391: Missing.

Show »
Length:147
Mass (Da):15,443
Checksum:iF49B7DEFB05D4336
GO
Isoform 8 (identifier: Q92838-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     265-267: Missing.
     307-308: Missing.

Show »
Length:386
Mass (Da):40,750
Checksum:iE498990FECC30F26
GO

Sequence cautioni

The sequence AAC77372 differs from that shown. Intron retention.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07531051L → Q in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_01061154H → Y in XHED. 1 Publication1
Natural variantiVAR_01061255L → R in XHED. 1 Publication1
Natural variantiVAR_01348460C → R in XHED. 1 Publication1
Natural variantiVAR_00517961Y → H in XHED. 1 PublicationCorresponds to variant rs132630308dbSNPEnsembl.1
Natural variantiVAR_00518063E → K in XHED. 1 PublicationCorresponds to variant rs132630311dbSNPEnsembl.1
Natural variantiVAR_02953465R → G in STHAGX1. 1 PublicationCorresponds to variant rs132630319dbSNPEnsembl.1
Natural variantiVAR_00518169R → L in XHED. 1 PublicationCorresponds to variant rs132630309dbSNPEnsembl.1
Natural variantiVAR_036590118P → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_075311125S → C in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_075312132Q → P in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054454153R → C in XHED; abolishes proteolytic processing. 4 PublicationsCorresponds to variant rs397516662dbSNPEnsembl.1
Natural variantiVAR_075313153R → H in XHED; unknown pathological significance. 1 PublicationCorresponds to variant rs140642493dbSNPEnsembl.1
Natural variantiVAR_005182155R → C in XHED; abolishes proteolytic processing. 7 PublicationsCorresponds to variant rs132630312dbSNPEnsembl.1
Natural variantiVAR_005183156R → C in XHED; abolishes proteolytic processing. 6 PublicationsCorresponds to variant rs132630313dbSNPEnsembl.1
Natural variantiVAR_064858156R → G in XHED. 1 Publication1
Natural variantiVAR_005184156R → H in XHED; abolishes proteolytic processing. 7 PublicationsCorresponds to variant rs132630314dbSNPEnsembl.1
Natural variantiVAR_054455156R → S in XHED. 1 Publication1
Natural variantiVAR_054456158K → N in XHED; abolishes proteolytic processing. 2 PublicationsCorresponds to variant rs727504649dbSNPEnsembl.1
Natural variantiVAR_054457183 – 194Missing in XHED. 3 PublicationsAdd BLAST12
Natural variantiVAR_054458184 – 189Missing in XHED. 1 Publication6
Natural variantiVAR_054459185 – 196Missing in XHED. 3 PublicationsAdd BLAST12
Natural variantiVAR_054460189G → E in XHED. 1 Publication1
Natural variantiVAR_054461191 – 196Missing in XHED. 2 Publications6
Natural variantiVAR_064859192 – 197Missing in XHED. 1 Publication6
Natural variantiVAR_075314193 – 201Missing in XHED; unknown pathological significance. 1 Publication9
Natural variantiVAR_054462198G → A in XHED. 1 Publication1
Natural variantiVAR_054463207G → R in XHED. 1 Publication1
Natural variantiVAR_064860207G → V in XHED. 1 Publication1
Natural variantiVAR_005185209P → L in XHED. 1 PublicationCorresponds to variant rs132630315dbSNPEnsembl.1
Natural variantiVAR_064861211T → R in XHED. 1 Publication1
Natural variantiVAR_054465218 – 223Missing in XHED. 1 Publication6
Natural variantiVAR_054464218G → D in XHED. 1 Publication1
Natural variantiVAR_075315219 – 230Missing in XHED; unknown pathological significance. 1 PublicationAdd BLAST12
Natural variantiVAR_005186224G → A in XHED. 1 PublicationCorresponds to variant rs132630316dbSNPEnsembl.1
Natural variantiVAR_005187252H → L in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_013485252H → Y in XHED. 1 Publication1
Natural variantiVAR_011077255G → C in XHED. 1 Publication1
Natural variantiVAR_011078255G → D in XHED; mild. 1 Publication1
Natural variantiVAR_071454259A → E in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_071455260I → S in STHAGX1. 1 Publication1
Natural variantiVAR_064862266L → R in XHED. 1 Publication1
Natural variantiVAR_013486269G → V in XHED. 1 Publication1
Natural variantiVAR_011079274W → G in XHED. 2 Publications1
Natural variantiVAR_064863274W → R in XHED. 1 Publication1
Natural variantiVAR_071456289R → C in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_071457289R → L in STHAGX1. 1 Publication1
Natural variantiVAR_010613291G → R in XHED. 4 PublicationsCorresponds to variant rs397516677dbSNPEnsembl.1
Natural variantiVAR_010614291G → W in XHED. 1 Publication1
Natural variantiVAR_064864293L → P in XHED. 1 Publication1
Natural variantiVAR_064865296L → V in XHED. 1 Publication1
Natural variantiVAR_010615298D → H in XHED. 1 Publication1
Natural variantiVAR_054466298D → Y in XHED. 1 Publication1
Natural variantiVAR_064866299G → D in XHED. 1 Publication1
Natural variantiVAR_005188299G → S in XHED. 4 PublicationsCorresponds to variant rs397516679dbSNPEnsembl.1
Natural variantiVAR_013487302F → S in XHED. 1 Publication1
Natural variantiVAR_075316304Y → H in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054467306Q → H in XHED. 1 Publication1
Natural variantiVAR_054468307V → G in XHED. 1 Publication1
Natural variantiVAR_075317316D → E in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_067319319S → R in XHED. 2 Publications1
Natural variantiVAR_054469320Y → C in XHED. 1 Publication1
Natural variantiVAR_064867323V → G in XHED. 1 Publication1
Natural variantiVAR_075318332C → F in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_011080332C → Y in XHED. 1 Publication1
Natural variantiVAR_071458334R → H in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant rs142948132dbSNPEnsembl.1
Natural variantiVAR_064868338T → M in STHAGX1. 1 PublicationCorresponds to variant rs132630321dbSNPEnsembl.1
Natural variantiVAR_054470343Y → C in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_064869346C → Y in XHED. 1 Publication1
Natural variantiVAR_005189349A → T in XHED. 4 PublicationsCorresponds to variant rs132630317dbSNPEnsembl.1
Natural variantiVAR_075319350G → D in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_067250354L → P in XHED. 1 Publication1
Natural variantiVAR_005190356A → D in XHED. 1 Publication1
Natural variantiVAR_064870356A → V in XHED. 1 Publication1
Natural variantiVAR_005191357R → P in XHED. 1 Publication1
Natural variantiVAR_054471358Q → E in XHED. 1 PublicationCorresponds to variant rs132630320dbSNPEnsembl.1
Natural variantiVAR_075320358Q → H in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054472360I → N in XHED. 1 Publication1
Natural variantiVAR_054473372N → D in XHED. 1 Publication1
Natural variantiVAR_054474373M → I in XHED. 1 Publication1
Natural variantiVAR_054475374S → R in XHED; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_013488378T → M in XHED. 3 Publications1
Natural variantiVAR_054476378T → P in XHED. 1 Publication1
Natural variantiVAR_071459379F → V in STHAGX1. 1 Publication1
Natural variantiVAR_064871381G → R in XHED. 1 Publication1
Natural variantiVAR_075321381G → V in XHED; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006458133 – 147MALLN…EKPYS → VSHLVGAAAAPSPRG in isoform 4. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_006459133 – 147MALLN…EKPYS → DFDYIISFSYGLQGFC in isoform 6. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_006460133 – 147MALLN…EKPYS → LHVSFSLRKKKAGHQ in isoform 7. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_006456133 – 142MALLNFFFPD → ACFPQVLLSL in isoform 5. 1 Publication10
Alternative sequenceiVSP_006454133 – 135MAL → GHQ in isoform 2. 1 Publication