Eda ectodysplasin-A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Edaprovided by MGI
Official Full Name: ectodysplasin-Aprovided by MGI
Primary source: MGI:MGI:1195272
See related: Ensembl:ENSMUSG00000059327 AllianceGenome:MGI:1195272
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ta; Ed1; HED; EDA1; XLHED; tabby; Eda-A1; Eda-A2; Tnlg7c
Summary: Predicted to enable death receptor agonist activity and death receptor binding activity. Acts upstream of or within several processes, including animal organ development; cell-matrix adhesion; and positive regulation of signal transduction. Located in apical part of cell and endoplasmic reticulum membrane. Is integral component of plasma membrane. Is expressed in several structures, including alimentary system; brain; future brain; nasal gland epithelium; and skin. Used to study hypohidrotic ectodermal dysplasia. Human ortholog(s) of this gene implicated in ectodermal dysplasia 1 and tooth agenesis. Orthologous to human EDA (ectodysplasin A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in limb E14.5 (RPKM 2.5), subcutaneous fat pad adult (RPKM 1.6) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: X C3; X 43.59 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (99019212..99444366)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (99975606..100400760)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ectodysplasin Signaling through XEDAR Is Required for Mammary Gland Morphogenesis.
Title: Ectodysplasin Signaling through XEDAR Is Required for Mammary Gland Morphogenesis.
Macrophage-derived EDA-A2 inhibits intestinal stem cells by targeting miR-494/EDA2R/beta-catenin signaling in mice.
Title: Macrophage-derived EDA-A2 inhibits intestinal stem cells by targeting miR-494/EDA2R/β-catenin signaling in mice.
A crucial implication of Eda signaling in the cornea-lacrimal gland feedback loop, both in physiological and pathophysiological conditions. These findings demonstrate that Eda downstream targets could help alleviate dry eye symptoms.
Title: Ectodysplasin-A signaling is a key integrator in the lacrimal gland-cornea feedback loop.
These findings in rodent hypohidrotic ectodermal dysplasia models imply that hypomorphic as well as null mutations in EDAR signalling pathway genes may predispose to otitis media.
Title: Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia.
results indicate that EDA/NKX2-3 signaling is essential for enamel knot formation during tooth morphogenesis in mice
Title: The transcription factor NKX2-3 mediates p21 expression and ectodysplasin-A signaling in the enamel knot for cusp formation in tooth development.
EDA gene expression contributes to the maintenance of epithelial barrier function.
Title: Ectodysplasin A regulates epithelial barrier function through sonic hedgehog signalling pathway.
loss of Fgf20 delays formation of Eda-induced supernumerary mammary buds and normalizes the embryonic and postnatal hyperbranching phenotype of Eda overexpressing mice.
Title: Ectodysplasin target gene Fgf20 regulates mammary bud growth and ductal invasion and branching during puberty.
Eda initiates a signaling cascade and recruits a BAF complex to specific gene loci to facilitate transcription during organogenesis.
Title: Eda-activated RelB recruits an SWI/SNF (BAF) chromatin-remodeling complex and initiates gene transcription in skin appendage formation.
Gain- and loss-of-function approaches reveal that liver-derived EDA regulates systemic glucose metabolism, suggesting that EDA is a hepatokine that can contribute to impaired skeletal muscle insulin sensitivity in obesity.
Title: A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.
This is the first analysis of the role of Eda in the root, showing a direct role for this pathway during postnatal mouse development, and it suggests that changes in proliferation and angle of HERS may underlie taurodontism in a range of syndromes.
Title: The Impact of the Eda Pathway on Tooth Root Development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (14) 1 citation
Chemically and radiation induced (2)
Radiation induced (5)
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC24264P1 (e-PCR)
- UniSTS:272245

PMC24264P2 (e-PCR)
- UniSTS:272246

PMC24264P3 (e-PCR)
- UniSTS:272247

PMC24264P4 (e-PCR)
- UniSTS:272248

AF016628 (e-PCR)
- UniSTS:160892

Eda (e-PCR), detects polymorphism
- UniSTS:275864

px-7h4 (e-PCR)
- UniSTS:258461

mHAa21e2.seq (e-PCR)
- UniSTS:125944

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables death receptor agonist activity	IBA Inferred from Biological aspect of Ancestor more info
enables death receptor agonist activity	ISO Inferred from Sequence Orthology more info
enables death receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables death receptor binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables tumor necrosis factor receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle placode formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in odontogenesis of dentin-containing tooth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within salivary gland cavitation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within trachea gland development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ectodysplasin-A

Names: EDA protein homolog; tumor necrosis factor ligand 7c

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001177937.1 → NP_001171408.1 ectodysplasin-A isoform 2

See identical proteins and their annotated locations for NP_001171408.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame small segment in the CDS, as compared to variant 1. The resulting isoform (2) lacks two internal aa, as compared to isoform 1.

Source sequence(s)

AF016627, AJ243657, CJ207760, DQ168876

UniProtKB/TrEMBL

A0A0U5J8Q0

Conserved Domains (1) summary

cd00184
Location:249 → 381

TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
NM_001177938.1 → NP_001171409.1 ectodysplasin-A isoform 3

See identical proteins and their annotated locations for NP_001171409.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame small segment in the CDS, as compared to variant 1. The resulting isoform (3) lacks three internal aa, as compared to isoform 1.

Source sequence(s)

CJ207760, DQ168877

UniProtKB/TrEMBL

Q1L2E0

Conserved Domains (1) summary

cd00184
Location:249 → 380

TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
NM_001177939.1 → NP_001171410.1 ectodysplasin-A isoform 4

See identical proteins and their annotated locations for NP_001171410.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks two in-frame small segments in the CDS, as compared to variant 1. The resulting isoform (4) lacks five internal aa, as compared to isoform 1.

Source sequence(s)

AF016627, AJ243658, CJ207760, DQ168876

Consensus CDS

CCDS53143.1

UniProtKB/Swiss-Prot

O54693

UniProtKB/TrEMBL

Q3UV69

Related

ENSMUSP00000109408.2, ENSMUST00000113778.8

Conserved Domains (1) summary

cd00184
Location:249 → 378

TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
NM_001177940.1 → NP_001171411.1 ectodysplasin-A isoform 5

See identical proteins and their annotated locations for NP_001171411.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (5) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

CJ207760, DQ168878

Consensus CDS

CCDS53144.1

UniProtKB/TrEMBL

Q1L2D9

Related

ENSMUSP00000071397.3, ENSMUST00000071453.3

Conserved Domains (1) summary

cd00184
Location:241 → 375

TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
NM_001177941.1 → NP_001171412.1 ectodysplasin-A isoform 6

See identical proteins and their annotated locations for NP_001171412.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks an in-frame exon and two in-frame small segments in the CDS, as compared to variant 1. The resulting isoform (6) is shorter but has the same N- and C-termini, as compared to isoform 1.

Source sequence(s)

CJ207760, DQ168879

Consensus CDS

CCDS53145.1

UniProtKB/TrEMBL

Q1L2D8

Related

ENSMUSP00000109411.2, ENSMUST00000113781.8

Conserved Domains (1) summary

cd00184
Location:241 → 370

TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
NM_001177942.1 → NP_001171413.1 ectodysplasin-A isoform 7

Status: VALIDATED

Description

Transcript Variant: This variant (7) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (7) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AF004435, CJ207760, DQ168876

Consensus CDS

CCDS53141.1

UniProtKB/Swiss-Prot

O54693

UniProtKB/TrEMBL

Q3UV69

Related

ENSMUSP00000109410.2, ENSMUST00000113780.8

Conserved Domains (1) summary

cl00147
Location:249 → 369

TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
NM_001177943.1 → NP_001171414.1 ectodysplasin-A isoform 8

See identical proteins and their annotated locations for NP_001171414.1

Status: VALIDATED

Description

Transcript Variant: This variant (8) lacks a small segment but has an additional exon in the CDS, as compared to variant 1. The resulting isoform (8) is shorter and has a different C-terminus, as compared to isoform 1.

Source sequence(s)

CJ207760, DQ168880

Consensus CDS

CCDS53142.1

UniProtKB/TrEMBL

Q1L2D6

Related

ENSMUSP00000109406.2, ENSMUST00000113776.8

Conserved Domains (1) summary

cl00147
Location:249 → 309

TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
NM_001177944.1 → NP_001171415.1 ectodysplasin-A isoform 8

See identical proteins and their annotated locations for NP_001171415.1

Status: VALIDATED

Description

Transcript Variant: This variant (9) lacks a small segment but has an additional exon in the CDS, as compared to variant 1. The resulting isoform (8) is shorter and has a different C-terminus, as compared to isoform 1.

Source sequence(s)

CJ207760, DQ168881

Consensus CDS

CCDS53142.1

UniProtKB/TrEMBL

Q1L2D6

Related

ENSMUSP00000109405.2, ENSMUST00000113775.8

Conserved Domains (1) summary

cl00147
Location:249 → 309

TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
NM_010099.2 → NP_034229.1 ectodysplasin-A isoform 1

See identical proteins and their annotated locations for NP_034229.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL671299, AL671979, AL773561

Consensus CDS

CCDS30299.1

UniProtKB/Swiss-Prot

B7ZMT7, O35705, O54693, Q9QWJ8, Q9QZ01, Q9QZ02

UniProtKB/TrEMBL

Q3UV69

Related

ENSMUSP00000109409.2, ENSMUST00000113779.8

Conserved Domains (1) summary

cd00184
Location:249 → 383

TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...