Edaradd MGI Mouse Gene Detail - MGI:1931001 - EDAR associated via death domain

Symbol

Edaradd
Name

EDAR associated via death domain
Synonyms

1810032E07Rik, 5830469M23Rik, EDAR (ectodysplasin-A receptor)-associated death domain

Feature Type

protein coding gene
IDs

MGI:1931001
NCBI Gene: 171211
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr13:12487513-12535319 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 4.77 cM
Mapping Data

20 experiments

SNPs within 2kb

1541 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1931001	protein coding gene	Chr13:12486090-12535413 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020232	protein coding gene	Chr13:9235904-9286705 (-)
A/J	MGP_AJ_G0020188	protein coding gene	Chr13:9057543-9108086 (-)
AKR/J	MGP_AKRJ_G0020163	protein coding gene	Chr13:9260528-9311186 (-)
BALB/cJ	MGP_BALBcJ_G0020171	protein coding gene	Chr13:9042520-9092737 (-)
C3H/HeJ	MGP_C3HHeJ_G0019975	protein coding gene	Chr13:9389613-9446276 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020618	protein coding gene	Chr13:9655231-9707246 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018225	protein coding gene	Chr13:8888505-8940599 (-)
CAST/EiJ	MGP_CASTEiJ_G0019513	protein coding gene	Chr13:9100936-9154094 (-)
CBA/J	MGP_CBAJ_G0019942	protein coding gene	Chr13:9913217-9967165 (-)
DBA/2J	MGP_DBA2J_G0020059	protein coding gene	Chr13:8877193-8927479 (-)
FVB/NJ	MGP_FVBNJ_G0020044	protein coding gene	Chr13:8695407-8745204 (-)
LP/J	MGP_LPJ_G0020133	protein coding gene	Chr13:9335267-9386461 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020080	protein coding gene	Chr13:10195831-10248726 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020646	protein coding gene	Chr13:9158817-9208790 (-)
PWK/PhJ	MGP_PWKPhJ_G0019276	protein coding gene	Chr13:8916199-8968850 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0019083	protein coding gene	Chr13:9142291-9198721 (-)
WSB/EiJ	MGP_WSBEiJ_G0019573	protein coding gene	Chr13:9124461-9179916 (-)

Human Ortholog

EDARADD, EDAR associated via death domain

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EDARADD, EDAR associated via death domain
Synonyms

CR, ECTD11A, ECTD11B, ED3, EDA3
Links

HGNC:14341

NCBI Gene ID: 128178

neXtProt AC: NX_Q8WWZ3

UniProt: Q8WWZ3
Chr Location

1q42.3-q43; chr1:236348257-236502915 (+) GRCh38

MGI Vertebrate Homology

Edaradd stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EDARADD
Gene Tree

Edaradd

Diseases

2 with human EDARADD associations

				Human Disease	Mouse Models
				ectodermal dysplasia 11A IDs ectodermal dysplasia 11A DOID:0111653 OMIM:614940
				ectodermal dysplasia 11B IDs ectodermal dysplasia 11B DOID:0111654 OMIM:614941

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

13 phenotypes from 5 alleles in 5 genetic backgrounds
58 phenotypes from multigenic genotypes
2 images
38 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Chemically induced (ENU)

2
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

2
Spontaneous

2
Targeted

1
Genomic Mutations

1 involving Edaradd
Incidental Mutations

APF
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Spontaneous mutations may lead to a kinked tail, reduced fertility, abnormal respiration and sparse hair. Chemically-induced mutants may show developmental defects in teeth, hair and ectoderm-derived glands, reduced viability and fertility, respiratory disorders, and lipid, myelin and brain defects.

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All GO Annotations

9
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

824
Tissues

57
cDNA Data

22
Literature Summary

11

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA EDARADD

Xenbase edaradd

ZFIN edaradd

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All Sequences

43
RefSeq

5
UniProt

4
CCDS

CCDS36593.1

Ensembl

ENSMUSG00000095105 (Evidence)
NCBI Gene

171211

			Length	Strain/Species	Flank
genomic	ENSMUSG00000095105	Ensembl Gene Model \| MGI Sequence Detail	47807	C57BL/6J	± kb
transcript	ENSMUST00000179308	Ensembl \| MGI Sequence Detail	6668	Not Applicable
polypeptide	ENSMUSP00000136158	Ensembl \| MGI Sequence Detail	208	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000006889 ectodysplasin-A receptor-associated adapter protein

(term hierarchy)
InterPro Domains

IPR000488 Death domain

IPR011029 Death-like domain superfamily

IPR039200 Ectodysplasin-A receptor-associated adapter protein

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All nucleic 23

Genomic 1

cDNA 22

Microarray probesets 4

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MGD-MRK-2121, MGI:1923329, MGI:1923604, MGI:88488

Summaries

All 78

Developmental Gene Expression 11

Gene Ontology 8

Phenotypes 38
Earliest

J:13040 Falconer DS, et al., The genetics and development of "crinkled", a new mutant in the house mouse. J Genet. 1951;50(2):324-344
Latest

J:348702 Wang Q, et al., ASH2L Mediates Epidermal Differentiation and Hair Follicle Morphogenesis through H3K4me3 Modification. J Invest Dermatol. 2024 Apr 4;

TSS for Edaradd:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr121464	Chr13:12535258-12535298 (-)	41 bp
Tssr121463	Chr13:12534935-12534978 (-)	362 bp
Tssr121462	Chr13:12516880-12516882 (-)	18,438 bp
Tssr121461	Chr13:12490377-12490427 (-)	44,917 bp
Tssr121460	Chr13:12488414-12488419 (-)	46,902 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24