Details for: EDA

Gene ID: 1896

Symbol: EDA

Ensembl ID: ENSG00000158813

Description: ectodysplasin A

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 152.6887
    Cell Significance Index: -23.7500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 93.6748
    Cell Significance Index: -23.7600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 50.0294
    Cell Significance Index: -23.6200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.2627
    Cell Significance Index: -23.7500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.5045
    Cell Significance Index: -22.9900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.8545
    Cell Significance Index: -23.7200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.4331
    Cell Significance Index: 118.7900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.3747
    Cell Significance Index: 50.7600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.2167
    Cell Significance Index: 170.1100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.0339
    Cell Significance Index: 39.7000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 1.9185
    Cell Significance Index: 19.8600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.3274
    Cell Significance Index: 18.1100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0205
    Cell Significance Index: 202.5200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5995
    Cell Significance Index: 414.6700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5748
    Cell Significance Index: 115.3000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4558
    Cell Significance Index: 11.4000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.4531
    Cell Significance Index: 65.8700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4340
    Cell Significance Index: 82.6000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3703
    Cell Significance Index: 132.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3151
    Cell Significance Index: 19.3700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.3128
    Cell Significance Index: 8.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2707
    Cell Significance Index: 12.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2604
    Cell Significance Index: 25.7600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.2350
    Cell Significance Index: 2.9300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2254
    Cell Significance Index: 4.9400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.2140
    Cell Significance Index: 1.4500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1741
    Cell Significance Index: 2.5700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1517
    Cell Significance Index: 136.9900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1272
    Cell Significance Index: 20.6800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.1121
    Cell Significance Index: 1.6100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1081
    Cell Significance Index: 199.2900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1041
    Cell Significance Index: 196.0800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0969
    Cell Significance Index: 0.7900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0730
    Cell Significance Index: 7.9400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0664
    Cell Significance Index: 11.9700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0641
    Cell Significance Index: 98.6500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0630
    Cell Significance Index: 10.7600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0463
    Cell Significance Index: 29.4100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0444
    Cell Significance Index: 1.2800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0320
    Cell Significance Index: 43.5300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0285
    Cell Significance Index: 12.9200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0232
    Cell Significance Index: 1.3900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0161
    Cell Significance Index: 0.7100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0115
    Cell Significance Index: 5.0700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0102
    Cell Significance Index: 0.3900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0100
    Cell Significance Index: 0.2800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0006
    Cell Significance Index: 0.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0004
    Cell Significance Index: 0.0500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0119
    Cell Significance Index: -0.8000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0149
    Cell Significance Index: -1.8300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0213
    Cell Significance Index: -1.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0219
    Cell Significance Index: -0.7700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0248
    Cell Significance Index: -18.3600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0272
    Cell Significance Index: -19.9300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0341
    Cell Significance Index: -25.8500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0359
    Cell Significance Index: -20.2600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0401
    Cell Significance Index: -25.0600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0654
    Cell Significance Index: -18.8200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0942
    Cell Significance Index: -1.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1010
    Cell Significance Index: -4.7100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1054
    Cell Significance Index: -10.9700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1088
    Cell Significance Index: -13.9500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1137
    Cell Significance Index: -23.9600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1210
    Cell Significance Index: -16.6100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1228
    Cell Significance Index: -2.6200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1235
    Cell Significance Index: -12.6200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1255
    Cell Significance Index: -2.7200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1314
    Cell Significance Index: -9.0900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1368
    Cell Significance Index: -8.3900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1535
    Cell Significance Index: -17.5900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1771
    Cell Significance Index: -22.8800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1948
    Cell Significance Index: -4.0400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2113
    Cell Significance Index: -24.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2312
    Cell Significance Index: -12.0100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2360
    Cell Significance Index: -5.6600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2575
    Cell Significance Index: -18.2100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2822
    Cell Significance Index: -22.3500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3035
    Cell Significance Index: -22.6200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3213
    Cell Significance Index: -20.7300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3278
    Cell Significance Index: -15.4100
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.3478
    Cell Significance Index: -4.4600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3697
    Cell Significance Index: -23.3000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3887
    Cell Significance Index: -20.2500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4126
    Cell Significance Index: -13.5100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4134
    Cell Significance Index: -13.1700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4340
    Cell Significance Index: -22.7900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4565
    Cell Significance Index: -14.6200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4644
    Cell Significance Index: -16.2700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5230
    Cell Significance Index: -26.4300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.5434
    Cell Significance Index: -14.7900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.5583
    Cell Significance Index: -9.2000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6001
    Cell Significance Index: -22.0300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.6146
    Cell Significance Index: -15.3300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.6157
    Cell Significance Index: -17.5700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.6391
    Cell Significance Index: -20.2200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6407
    Cell Significance Index: -13.4100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6426
    Cell Significance Index: -22.3300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6512
    Cell Significance Index: -17.4200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.6648
    Cell Significance Index: -16.2200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6876
    Cell Significance Index: -14.8600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** EDA is a non-coding gene that encodes a protein, EDA_HUMAN, which is involved in cell-cell signaling and interaction. The EDA protein is a ligand that binds to its receptor, EDAR (Ectodysplasin Receptor), triggering a cascade of downstream signaling events. These events regulate various cellular processes, including cell proliferation, differentiation, and survival. The EDA protein is also involved in the regulation of the immune response, with implications for the development and progression of autoimmune diseases. **Pathways and Functions:** EDA's involvement in multiple signaling pathways is a testament to its complexity and multifaceted role in cellular processes. The canonical Wnt signaling pathway, which is crucial for development and tissue homeostasis, is activated by EDA binding to its receptor, EDAR. This activation leads to the regulation of gene expression, cell proliferation, and differentiation. The NF-κB pathway, which is involved in immune responses and inflammation, is also regulated by EDA. The EDA protein interacts with various transcription factors, including NF-κB, to modulate gene expression and promote immune responses. **Clinical Significance:** The clinical significance of EDA is evident from its association with various diseases, including autoimmune disorders, cancer, and developmental abnormalities. Mutations in the EDA gene have been linked to conditions such as ectodermal dysplasia, a group of disorders characterized by abnormalities in the development of skin, hair, and nails. Additionally, EDA has been implicated in the development and progression of autoimmune diseases, including rheumatoid arthritis and lupus. The EDA protein's role in regulating the immune response makes it a potential therapeutic target for the treatment of autoimmune disorders. In conclusion, EDA is a complex gene with far-reaching implications for our understanding of immune regulation, cell differentiation, and development. Further research into the functions and clinical significance of EDA is warranted, particularly in the context of autoimmune disorders and developmental abnormalities. **Signaling Pathways:** 1. **Canonical Wnt signaling pathway**: EDA binding to its receptor, EDAR, activates the canonical Wnt signaling pathway, leading to the regulation of gene expression, cell proliferation, and differentiation. 2. **NF-κB pathway**: EDA interacts with NF-κB, a transcription factor involved in immune responses and inflammation, to modulate gene expression and promote immune responses. 3. **Apical part of cell**: EDA is involved in the regulation of cell-cell signaling and interaction at the apical part of cells. 4. **Cytokine signaling in immune system**: EDA regulates cytokine signaling in the immune system, with implications for the development and progression of autoimmune diseases. 5. **Positive regulation of canonical NF-κB signal transduction**: EDA promotes the activation of the NF-κB pathway, leading to the regulation of gene expression and immune responses. **Signaling Receptors:** 1. **EDAR (Ectodysplasin Receptor)**: EDA binds to its receptor, EDAR, triggering a cascade of downstream signaling events. 2. **TNFR2 (Tumor necrosis factor receptor 2)**: EDA interacts with TNFR2, a receptor involved in the regulation of immune responses and inflammation. **Signaling Effectors:** 1. **NF-κB**: EDA interacts with NF-κB, a transcription factor involved in immune responses and inflammation, to modulate gene expression and promote immune responses. 2. **Wnt/β-catenin**: EDA activates the Wnt/β-catenin signaling pathway, leading to the regulation of gene expression and cell proliferation. **Cell Types:** 1. **OFF-bipolar cell**: EDA is significantly expressed in OFF-bipolar cells, which are involved in the regulation of visual processing. 2. **Retinal bipolar neuron**: EDA is expressed in retinal bipolar neurons, which are involved in the regulation of visual processing. 3. **Cortical cell of adrenal gland**: EDA is expressed in cortical cells of the adrenal gland, which are involved in the regulation of stress responses. 4. **Cardiac neuron**: EDA is expressed in cardiac neurons, which are involved in the regulation of cardiovascular function. **Diseases Associated with EDA:** 1. **Ectodermal dysplasia**: Mutations in the EDA gene have been linked to conditions such as ectodermal dysplasia, a group of disorders characterized by abnormalities in the development of skin, hair, and nails. 2. **Autoimmune disorders**: EDA has been implicated in the development and progression of autoimmune diseases, including rheumatoid arthritis and lupus. 3. **Cancer**: EDA has been linked to the development and progression of cancer, particularly in the context of immune regulation and tumor microenvironment.

Genular Protein ID: 3257661251

Symbol: EDA_HUMAN

Name: Ectodysplasin-A

UniProtKB Accession Codes:

Q92838 A0AUZ2 A2A337 B7ZLU2 B7ZLU4 O75910 Q5JS00 Q5JUM7 Q9UP77 Q9Y6L0 Q9Y6L1 Q9Y6L2 Q9Y6L3 Q9Y6L4

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 5 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 17 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 31 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 1 RefSeq 5 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8696334

Title: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.

PubMed ID: 8696334

DOI: 10.1038/ng0895-409

PubMed ID: 9683615

Title: Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

PubMed ID: 9683615

DOI: 10.1086/301984

PubMed ID: 9736768

Title: The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.

PubMed ID: 9736768

DOI: 10.1093/hmg/7.11.1661

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11039935

Title: Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.

PubMed ID: 11039935

DOI: 10.1126/science.290.5491.523

PubMed ID: 11309369

Title: Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.

PubMed ID: 11309369

DOI: 10.1093/hmg/10.9.953

PubMed ID: 11416205

Title: Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.

PubMed ID: 11416205

DOI: 10.1073/pnas.131076098

PubMed ID: 14656435

Title: The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity.

PubMed ID: 14656435

DOI: 10.1016/j.str.2003.11.009

PubMed ID: 9630076

Title: A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.

PubMed ID: 9630076

DOI: 10.1111/j.1399-0004.1998.tb02678.x

PubMed ID: 9507389

Title: Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.

PubMed ID: 9507389

DOI: 10.1136/jmg.35.2.112

PubMed ID: 10469321

Title: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg).

PubMed ID: 10469321

DOI: 10.1046/j.1523-1747.1999.00656.x

PubMed ID: 10951256

Title: A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia.

PubMed ID: 10951256

DOI: 10.1046/j.1523-1747.2000.00065-1.x

PubMed ID: 11343303

Title: Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.

PubMed ID: 11343303

DOI: 10.1002/ajmg.1225

PubMed ID: 11378824

Title: Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

PubMed ID: 11378824

DOI: 10.1038/sj.ejhg.5200635

PubMed ID: 11295832

Title: The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

PubMed ID: 11295832

DOI: 10.1002/humu.33

PubMed ID: 11279189

Title: Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

PubMed ID: 11279189

DOI: 10.1074/jbc.m101280200

PubMed ID: 12225002

Title: Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.

PubMed ID: 12225002

DOI: 10.1001/archderm.138.9.1256

PubMed ID: 12932274

Title: A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.

PubMed ID: 12932274

DOI: 10.1046/j.1365-2133.2003.05480.x

PubMed ID: 16583127

Title: A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

PubMed ID: 16583127

DOI: 10.1007/s10038-006-0389-2

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17256800

Title: A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.

PubMed ID: 17256800

DOI: 10.1002/ajmg.a.31567

PubMed ID: 18231121

Title: Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

PubMed ID: 18231121

DOI: 10.1038/sj.ejhg.5202012

PubMed ID: 18657636

Title: Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.

PubMed ID: 18657636

DOI: 10.1016/j.ejmg.2008.06.002

PubMed ID: 19438931

Title: Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.

PubMed ID: 19438931

DOI: 10.1111/j.1399-0004.2009.01178.x

PubMed ID: 19278982

Title: EDA gene mutations underlie non-syndromic oligodontia.

PubMed ID: 19278982

DOI: 10.1177/0022034508328627

PubMed ID: 19127222

Title: Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.

PubMed ID: 19127222

DOI: 10.1203/pdr.0b013e3181991229

PubMed ID: 20486090

Title: Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems.

PubMed ID: 20486090

DOI: 10.4238/vol9-2gmr810

PubMed ID: 20979233

Title: Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

PubMed ID: 20979233

DOI: 10.1002/humu.21384

PubMed ID: 22008666

Title: Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

PubMed ID: 22008666

DOI: 10.1016/j.gene.2011.10.009

PubMed ID: 22350046

Title: A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.

PubMed ID: 22350046

PubMed ID: 23625373

Title: Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.

PubMed ID: 23625373

DOI: 10.1177/0022034513487557

PubMed ID: 23603338

Title: Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

PubMed ID: 23603338

DOI: 10.1177/0022034513487210

PubMed ID: 24487376

Title: Oligodontia and curly hair occur with ectodysplasin-a mutations.

PubMed ID: 24487376

DOI: 10.1177/0022034514522059

PubMed ID: 24724966

Title: Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

PubMed ID: 24724966

DOI: 10.1111/cge.12404

PubMed ID: 27657131

Title: Eight mutations of three genes (EDA, EDAR, and WNT10A) identified in seven hypohidrotic ectodermal dysplasia patients.

PubMed ID: 27657131

DOI: 10.3390/genes7090065

PubMed ID: 27144394

Title: Functional study of ectodysplasin-a mutations causing non-syndromic tooth agenesis.

PubMed ID: 27144394

DOI: 10.1371/journal.pone.0154884

PubMed ID: 34582123

Title: Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.

PubMed ID: 34582123

DOI: 10.1002/mgg3.1824

PubMed ID: 38287639

Title: Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.

PubMed ID: 38287639

DOI: 10.1111/odi.14878

Sequence Information:

  • Length: 391
  • Mass: 41294
  • Checksum: 15DB3F5053293CBA
  • Sequence:
    • MGYPEVERRE LLPAAAPRER GSQGCGCGGA PARAGEGNSC LLFLGFFGLS LALHLLTLCC 
YLELRSELRR ERGAESRLGG SGTPGTSGTL SSLGGLDPDS PITSHLGQPS PKQQPLEPGE 
AALHSDSQDG HQMALLNFFF PDEKPYSEEE SRRVRRNKRS KSNEGADGPV KNKKKGKKAG 
PPGPNGPPGP PGPPGPQGPP GIPGIPGIPG TTVMGPPGPP GPPGPQGPPG LQGPSGAADK 
AGTRENQPAV VHLQGQGSAI QVKNDLSGGV LNDWSRITMN PKVFKLHPRS GELEVLVDGT 
YFIYSQVEVY YINFTDFASY EVVVDEKPFL QCTRSIETGK TNYNTCYTAG VCLLKARQKI 
AVKMVHADIS INMSKHTTFF GAIRLGEAPA S

Genular Protein ID: 1345358815

Symbol: A0A0U5J797_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0U5J797

Database IDs:

ARBA 4 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 9 Gene3D 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 Pfam 1 RefSeq 1 SAM 2 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 26646413

Title: Comparative genomic analysis of eutherian tumor necrosis factor ligand genes.

PubMed ID: 26646413

DOI: 10.1007/s00251-015-0887-5

Title: Eutherian third-party data gene collections.

DOI: 10.1016/j.genrep.2019.100414

Sequence Information:

  • Length: 389
  • Mass: 41065
  • Checksum: 9289F3104CD83454
  • Sequence:
    • MGYPEVERRE LLPAAAPRER GSQGCGCGGA PARAGEGNSC LLFLGFFGLS LALHLLTLCC 
YLELRSELRR ERGAESRLGG SGTPGTSGTL SSLGGLDPDS PITSHLGQPS PKQQPLEPGE 
AALHSDSQDG HQMALLNFFF PDEKPYSEEE SRRVRRNKRS KSNEGADGPV KNKKKGKKAG 
PPGPNGPPGP PGPPGPQGPP GIPGIPGIPG TTVMGPPGPP GPPGPQGPPG LQGPSGAADK 
AGTRENQPAV VHLQGQGSAI QVKNDLSGGV LNDWSRITMN PKVFKLHPRS GELEVLVDGT 
YFIYSQVYYI NFTDFASYEV VVDEKPFLQC TRSIETGKTN YNTCYTAGVC LLKARQKIAV 
KMVHADISIN MSKHTTFFGA IRLGEAPAS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.