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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

  • receptor binding Source: HGNC

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation

Enzyme and pathway databases

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4141CytoplasmicSequence analysisAdd
BLAST
Transmembranei42 – 6221Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini63 – 391329ExtracellularSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511L → Q in XHED; unknown pathological significance. 1 Publication
VAR_075310
Natural varianti54 – 541H → Y in XHED. 1 Publication
VAR_010611
Natural varianti55 – 551L → R in XHED. 1 Publication
VAR_010612
Natural varianti60 – 601C → R in XHED. 1 Publication
VAR_013484
Natural varianti61 – 611Y → H in XHED. 1 Publication
Corresponds to variant rs132630308 [ dbSNP | Ensembl ].
VAR_005179
Natural varianti63 – 631E → K in XHED. 1 Publication
Corresponds to variant rs132630311 [ dbSNP | Ensembl ].
VAR_005180
Natural varianti69 – 691R → L in XHED. 1 Publication
Corresponds to variant rs132630309 [ dbSNP | Ensembl ].
VAR_005181
Natural varianti125 – 1251S → C in XHED; unknown pathological significance. 1 Publication
VAR_075311
Natural varianti132 – 1321Q → P in XHED; unknown pathological significance. 1 Publication
VAR_075312
Natural varianti153 – 1531R → C in XHED; abolishes proteolytic processing. 4 Publications
Corresponds to variant rs397516662 [ dbSNP | Ensembl ].
VAR_054454
Natural varianti153 – 1531R → H in XHED; unknown pathological significance. 1 Publication
Corresponds to variant rs140642493 [ dbSNP | Ensembl ].
VAR_075313
Natural varianti155 – 1551R → C in XHED; abolishes proteolytic processing. 7 Publications
Corresponds to variant rs132630312 [ dbSNP | Ensembl ].
VAR_005182
Natural varianti156 – 1561R → C in XHED; abolishes proteolytic processing. 6 Publications
Corresponds to variant rs132630313 [ dbSNP | Ensembl ].
VAR_005183
Natural varianti156 – 1561R → G in XHED. 1 Publication
VAR_064858
Natural varianti156 – 1561R → H in XHED; abolishes proteolytic processing. 7 Publications
Corresponds to variant rs132630314 [ dbSNP | Ensembl ].
VAR_005184
Natural varianti156 – 1561R → S in XHED. 1 Publication
VAR_054455
Natural varianti158 – 1581K → N in XHED; abolishes proteolytic processing. 2 Publications
Corresponds to variant rs727504649 [ dbSNP | Ensembl ].
VAR_054456
Natural varianti183 – 19412Missing in XHED. 3 Publications
VAR_054457Add
BLAST
Natural varianti184 – 1896Missing in XHED. 1 Publication
VAR_054458
Natural varianti185 – 19612Missing in XHED. 3 Publications
VAR_054459Add
BLAST
Natural varianti189 – 1891G → E in XHED. 1 Publication
VAR_054460
Natural varianti191 – 1966Missing in XHED. 2 Publications
VAR_054461
Natural varianti192 – 1976Missing in XHED. 1 Publication
VAR_064859
Natural varianti193 – 2019Missing in XHED; unknown pathological significance. 1 Publication
VAR_075314
Natural varianti198 – 1981G → A in XHED. 1 Publication
VAR_054462
Natural varianti207 – 2071G → R in XHED. 1 Publication
VAR_054463
Natural varianti207 – 2071G → V in XHED. 1 Publication
VAR_064860
Natural varianti209 – 2091P → L in XHED. 1 Publication
Corresponds to variant rs132630315 [ dbSNP | Ensembl ].
VAR_005185
Natural varianti211 – 2111T → R in XHED. 1 Publication
VAR_064861
Natural varianti218 – 2236Missing in XHED. 1 Publication
VAR_054465
Natural varianti218 – 2181G → D in XHED. 1 Publication
VAR_054464
Natural varianti219 – 23012Missing in XHED; unknown pathological significance. 1 Publication
VAR_075315Add
BLAST
Natural varianti224 – 2241G → A in XHED. 1 Publication
Corresponds to variant rs132630316 [ dbSNP | Ensembl ].
VAR_005186
Natural varianti252 – 2521H → L in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_005187
Natural varianti252 – 2521H → Y in XHED. 1 Publication
VAR_013485
Natural varianti255 – 2551G → C in XHED. 1 Publication
VAR_011077
Natural varianti255 – 2551G → D in XHED; mild. 1 Publication
VAR_011078
Natural varianti266 – 2661L → R in XHED. 1 Publication
VAR_064862
Natural varianti269 – 2691G → V in XHED. 1 Publication
VAR_013486
Natural varianti274 – 2741W → G in XHED. 2 Publications
VAR_011079
Natural varianti274 – 2741W → R in XHED. 1 Publication
VAR_064863
Natural varianti291 – 2911G → R in XHED. 4 Publications
Corresponds to variant rs397516677 [ dbSNP | Ensembl ].
VAR_010613
Natural varianti291 – 2911G → W in XHED. 1 Publication
VAR_010614
Natural varianti293 – 2931L → P in XHED. 1 Publication
VAR_064864
Natural varianti296 – 2961L → V in XHED. 1 Publication
VAR_064865
Natural varianti298 – 2981D → H in XHED. 1 Publication
VAR_010615
Natural varianti298 – 2981D → Y in XHED. 1 Publication
VAR_054466
Natural varianti299 – 2991G → D in XHED. 1 Publication
VAR_064866
Natural varianti299 – 2991G → S in XHED. 4 Publications
Corresponds to variant rs397516679 [ dbSNP | Ensembl ].
VAR_005188
Natural varianti302 – 3021F → S in XHED. 1 Publication
VAR_013487
Natural varianti304 – 3041Y → H in XHED; unknown pathological significance. 1 Publication
VAR_075316
Natural varianti306 – 3061Q → H in XHED. 1 Publication
VAR_054467
Natural varianti307 – 3071V → G in XHED. 1 Publication
VAR_054468
Natural varianti316 – 3161D → E in XHED; unknown pathological significance. 1 Publication
VAR_075317
Natural varianti319 – 3191S → R in XHED. 2 Publications
VAR_067319
Natural varianti320 – 3201Y → C in XHED. 1 Publication
VAR_054469
Natural varianti323 – 3231V → G in XHED. 1 Publication
VAR_064867
Natural varianti332 – 3321C → F in XHED; unknown pathological significance. 1 Publication
VAR_075318
Natural varianti332 – 3321C → Y in XHED. 1 Publication
VAR_011080
Natural varianti343 – 3431Y → C in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_054470
Natural varianti346 – 3461C → Y in XHED. 1 Publication
VAR_064869
Natural varianti349 – 3491A → T in XHED. 4 Publications
Corresponds to variant rs132630317 [ dbSNP | Ensembl ].
VAR_005189
Natural varianti350 – 3501G → D in XHED; unknown pathological significance. 1 Publication
VAR_075319
Natural varianti354 – 3541L → P in XHED. 1 Publication
VAR_067250
Natural varianti356 – 3561A → D in XHED. 1 Publication
VAR_005190
Natural varianti356 – 3561A → V in XHED. 1 Publication
VAR_064870
Natural varianti357 – 3571R → P in XHED. 1 Publication
VAR_005191
Natural varianti358 – 3581Q → E in XHED. 1 Publication
Corresponds to variant rs132630320 [ dbSNP | Ensembl ].
VAR_054471
Natural varianti358 – 3581Q → H in XHED; unknown pathological significance. 1 Publication
VAR_075320
Natural varianti360 – 3601I → N in XHED. 1 Publication
VAR_054472
Natural varianti372 – 3721N → D in XHED. 1 Publication
VAR_054473
Natural varianti373 – 3731M → I in XHED. 1 Publication
VAR_054474
Natural varianti374 – 3741S → R in XHED; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_054475
Natural varianti378 – 3781T → M in XHED. 3 Publications
VAR_013488
Natural varianti378 – 3781T → P in XHED. 1 Publication
VAR_054476
Natural varianti381 – 3811G → R in XHED. 1 Publication
VAR_064871
Natural varianti381 – 3811G → V in XHED; unknown pathological significance. 1 Publication
VAR_075321
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651R → G in STHAGX1. 1 Publication
Corresponds to variant rs132630319 [ dbSNP | Ensembl ].
VAR_029534
Natural varianti259 – 2591A → E in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_071454
Natural varianti260 – 2601I → S in STHAGX1. 1 Publication
VAR_071455
Natural varianti289 – 2891R → C in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_071456
Natural varianti289 – 2891R → L in STHAGX1. 1 Publication
VAR_071457
Natural varianti334 – 3341R → H in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
Corresponds to variant rs142948132 [ dbSNP | Ensembl ].
VAR_071458
Natural varianti338 – 3381T → M in STHAGX1. 1 Publication
Corresponds to variant rs132630321 [ dbSNP | Ensembl ].
VAR_064868
Natural varianti379 – 3791F → V in STHAGX1. 1 Publication
VAR_071459

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi159 – 1591R → A: Abolishes proteolytic processing. 1 Publication

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiEDA.
DMDMi6166135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 391391Ectodysplasin-A, membrane formPRO_0000034538Add
BLAST
Chaini160 – 391232Ectodysplasin-A, secreted form1 PublicationPRO_0000034539Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi313 – 3131N-linked (GlcNAc...)Sequence analysis
Glycosylationi372 – 3721N-linked (GlcNAc...)Sequence analysis

Post-translational modificationi

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei159 – 1602Cleavage; by furin1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

PaxDbiQ92838.
PeptideAtlasiQ92838.
PRIDEiQ92838.

PTM databases

iPTMnetiQ92838.
PhosphoSiteiQ92838.

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
DOLKQ9UPQ83EBI-529425,EBI-8645574
EMP3P548523EBI-529425,EBI-3907816
GIMAP5Q96F153EBI-529425,EBI-6166686
LEPROTL1Q6FHL73EBI-529425,EBI-10249700
MALP211453EBI-529425,EBI-3932027
NIPAL3Q6P4993EBI-529425,EBI-10252783
OSTCQ9NRP03EBI-529425,EBI-1044658
OSTCLQ8TBU13EBI-529425,EBI-10273677
PLNP266783EBI-529425,EBI-692836
SEC22AQ96IW73EBI-529425,EBI-8652744

GO - Molecular functioni

  • receptor binding Source: HGNC

Protein-protein interaction databases

BioGridi108224. 70 interactions.
IntActiQ92838. 13 interactions.
STRINGi9606.ENSP00000363680.

Structurei

Secondary structure

1
391
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi249 – 2546Combined sources
Beta strandi257 – 2615Combined sources
Helixi262 – 2643Combined sources
Helixi266 – 2694Combined sources
Beta strandi275 – 2795Combined sources
Turni281 – 2833Combined sources
Beta strandi284 – 2863Combined sources
Turni288 – 2903Combined sources
Beta strandi293 – 2953Combined sources
Beta strandi299 – 3057Combined sources
Beta strandi308 – 3169Combined sources
Beta strandi318 – 3247Combined sources
Beta strandi327 – 33610Combined sources
Beta strandi338 – 3403Combined sources
Beta strandi342 – 35413Combined sources
Beta strandi359 – 3646Combined sources
Beta strandi370 – 3723Combined sources
Turni375 – 3773Combined sources
Beta strandi378 – 3869Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 242-390.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ92838.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini180 – 22950Collagen-likeAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511L → Q in XHED; unknown pathological significance. 1 Publication
VAR_075310
Natural varianti54 – 541H → Y in XHED. 1 Publication
VAR_010611
Natural varianti55 – 551L → R in XHED. 1 Publication
VAR_010612
Natural varianti60 – 601C → R in XHED. 1 Publication
VAR_013484
Natural varianti61 – 611Y → H in XHED. 1 Publication
Corresponds to variant rs132630308 [ dbSNP | Ensembl ].
VAR_005179
Natural varianti63 – 631E → K in XHED. 1 Publication
Corresponds to variant rs132630311 [ dbSNP | Ensembl ].
VAR_005180
Natural varianti65 – 651R → G in STHAGX1. 1 Publication
Corresponds to variant rs132630319 [ dbSNP | Ensembl ].
VAR_029534
Natural varianti69 – 691R → L in XHED. 1 Publication
Corresponds to variant rs132630309 [ dbSNP | Ensembl ].
VAR_005181
Natural varianti118 – 1181P → L in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036590
Natural varianti125 – 1251S → C in XHED; unknown pathological significance. 1 Publication
VAR_075311
Natural varianti132 – 1321Q → P in XHED; unknown pathological significance. 1 Publication
VAR_075312
Natural varianti153 – 1531R → C in XHED; abolishes proteolytic processing. 4 Publications
Corresponds to variant rs397516662 [ dbSNP | Ensembl ].
VAR_054454
Natural varianti153 – 1531R → H in XHED; unknown pathological significance. 1 Publication
Corresponds to variant rs140642493 [ dbSNP | Ensembl ].
VAR_075313
Natural varianti155 – 1551R → C in XHED; abolishes proteolytic processing. 7 Publications
Corresponds to variant rs132630312 [ dbSNP | Ensembl ].
VAR_005182
Natural varianti156 – 1561R → C in XHED; abolishes proteolytic processing. 6 Publications
Corresponds to variant rs132630313 [ dbSNP | Ensembl ].
VAR_005183
Natural varianti156 – 1561R → G in XHED. 1 Publication
VAR_064858
Natural varianti156 – 1561R → H in XHED; abolishes proteolytic processing. 7 Publications
Corresponds to variant rs132630314 [ dbSNP | Ensembl ].
VAR_005184
Natural varianti156 – 1561R → S in XHED. 1 Publication
VAR_054455
Natural varianti158 – 1581K → N in XHED; abolishes proteolytic processing. 2 Publications
Corresponds to variant rs727504649 [ dbSNP | Ensembl ].
VAR_054456
Natural varianti183 – 19412Missing in XHED. 3 Publications
VAR_054457Add
BLAST
Natural varianti184 – 1896Missing in XHED. 1 Publication
VAR_054458
Natural varianti185 – 19612Missing in XHED. 3 Publications
VAR_054459Add
BLAST
Natural varianti189 – 1891G → E in XHED. 1 Publication
VAR_054460
Natural varianti191 – 1966Missing in XHED. 2 Publications
VAR_054461
Natural varianti192 – 1976Missing in XHED. 1 Publication
VAR_064859
Natural varianti193 – 2019Missing in XHED; unknown pathological significance. 1 Publication
VAR_075314
Natural varianti198 – 1981G → A in XHED. 1 Publication
VAR_054462
Natural varianti207 – 2071G → R in XHED. 1 Publication
VAR_054463
Natural varianti207 – 2071G → V in XHED. 1 Publication
VAR_064860
Natural varianti209 – 2091P → L in XHED. 1 Publication
Corresponds to variant rs132630315 [ dbSNP | Ensembl ].
VAR_005185
Natural varianti211 – 2111T → R in XHED. 1 Publication
VAR_064861
Natural varianti218 – 2236Missing in XHED. 1 Publication
VAR_054465
Natural varianti218 – 2181G → D in XHED. 1 Publication
VAR_054464
Natural varianti219 – 23012Missing in XHED; unknown pathological significance. 1 Publication
VAR_075315Add
BLAST
Natural varianti224 – 2241G → A in XHED. 1 Publication
Corresponds to variant rs132630316 [ dbSNP | Ensembl ].
VAR_005186
Natural varianti252 – 2521H → L in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_005187
Natural varianti252 – 2521H → Y in XHED. 1 Publication
VAR_013485
Natural varianti255 – 2551G → C in XHED. 1 Publication
VAR_011077
Natural varianti255 – 2551G → D in XHED; mild. 1 Publication
VAR_011078
Natural varianti259 – 2591A → E in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_071454
Natural varianti260 – 2601I → S in STHAGX1. 1 Publication
VAR_071455
Natural varianti266 – 2661L → R in XHED. 1 Publication
VAR_064862
Natural varianti269 – 2691G → V in XHED. 1 Publication
VAR_013486
Natural varianti274 – 2741W → G in XHED. 2 Publications
VAR_011079
Natural varianti274 – 2741W → R in XHED. 1 Publication
VAR_064863
Natural varianti289 – 2891R → C in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_071456
Natural varianti289 – 2891R → L in STHAGX1. 1 Publication
VAR_071457
Natural varianti291 – 2911G → R in XHED. 4 Publications
Corresponds to variant rs397516677 [ dbSNP | Ensembl ].
VAR_010613
Natural varianti291 – 2911G → W in XHED. 1 Publication
VAR_010614
Natural varianti293 – 2931L → P in XHED. 1 Publication
VAR_064864
Natural varianti296 – 2961L → V in XHED. 1 Publication
VAR_064865
Natural varianti298 – 2981D → H in XHED. 1 Publication
VAR_010615
Natural varianti298 – 2981D → Y in XHED. 1 Publication
VAR_054466
Natural varianti299 – 2991G → D in XHED. 1 Publication
VAR_064866
Natural varianti299 – 2991G → S in XHED. 4 Publications
Corresponds to variant rs397516679 [ dbSNP | Ensembl ].
VAR_005188
Natural varianti302 – 3021F → S in XHED. 1 Publication
VAR_013487
Natural varianti304 – 3041Y → H in XHED; unknown pathological significance. 1 Publication
VAR_075316
Natural varianti306 – 3061Q → H in XHED. 1 Publication
VAR_054467
Natural varianti307 – 3071V → G in XHED. 1 Publication
VAR_054468
Natural varianti316 – 3161D → E in XHED; unknown pathological significance. 1 Publication
VAR_075317
Natural varianti319 – 3191S → R in XHED. 2 Publications
VAR_067319
Natural varianti320 – 3201Y → C in XHED. 1 Publication
VAR_054469
Natural varianti323 – 3231V → G in XHED. 1 Publication
VAR_064867
Natural varianti332 – 3321C → F in XHED; unknown pathological significance. 1 Publication
VAR_075318
Natural varianti332 – 3321C → Y in XHED. 1 Publication
VAR_011080
Natural varianti334 – 3341R → H in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
Corresponds to variant rs142948132 [ dbSNP | Ensembl ].
VAR_071458
Natural varianti338 – 3381T → M in STHAGX1. 1 Publication
Corresponds to variant rs132630321 [ dbSNP | Ensembl ].
VAR_064868
Natural varianti343 – 3431Y → C in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_054470
Natural varianti346 – 3461C → Y in XHED. 1 Publication
VAR_064869
Natural varianti349 – 3491A → T in XHED. 4 Publications
Corresponds to variant rs132630317 [ dbSNP | Ensembl ].
VAR_005189
Natural varianti350 – 3501G → D in XHED; unknown pathological significance. 1 Publication
VAR_075319
Natural varianti354 – 3541L → P in XHED. 1 Publication
VAR_067250
Natural varianti356 – 3561A → D in XHED. 1 Publication
VAR_005190
Natural varianti356 – 3561A → V in XHED. 1 Publication
VAR_064870
Natural varianti357 – 3571R → P in XHED. 1 Publication
VAR_005191
Natural varianti358 – 3581Q → E in XHED. 1 Publication
Corresponds to variant rs132630320 [ dbSNP | Ensembl ].
VAR_054471
Natural varianti358 – 3581Q → H in XHED; unknown pathological significance. 1 Publication
VAR_075320
Natural varianti360 – 3601I → N in XHED. 1 Publication
VAR_054472
Natural varianti372 – 3721N → D in XHED. 1 Publication
VAR_054473
Natural varianti373 – 3731M → I in XHED. 1 Publication
VAR_054474
Natural varianti374 – 3741S → R in XHED; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication
VAR_054475
Natural varianti378 – 3781T → M in XHED. 3 Publications
VAR_013488
Natural varianti378 – 3781T → P in XHED. 1 Publication
VAR_054476
Natural varianti379 – 3791F → V in STHAGX1. 1 Publication
VAR_071459
Natural varianti381 – 3811G → R in XHED. 1 Publication