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EDA2R
Identifiers
Aliases	EDA2R, EDA-A2R, EDAA2R, TNFRSF27, XEDAR, ectodysplasin A2 receptor
External IDs	OMIM: 300276; MGI: 2442860; HomoloGene: 11033; GeneCards: EDA2R; OMA:EDA2R - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq12 Start 66,595,637 bp End 66,639,298 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X C3 Start 96,377,446 bp End 96,420,822 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium right adrenal cortex right uterine tube Descending thoracic aorta ascending aorta testicle smooth muscle tissue left adrenal gland canal of the cervix left adrenal cortex Top expressed in temporal muscle ankle gastrocnemius muscle endothelial cell of lymphatic vessel triceps brachii muscle muscle of thigh quadriceps femoris muscle soleus muscle medial head of gastrocnemius muscle tibialis anterior muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding tumor necrosis factor-activated receptor activity signaling receptor activity Cellular component integral component of membrane integral component of plasma membrane intracellular anatomical structure membrane plasma membrane Biological process multicellular organism development cell differentiation tumor necrosis factor-mediated signaling pathway positive regulation of JNK cascade positive regulation of NF-kappaB transcription factor activity ectodermal cell differentiation intrinsic apoptotic signaling pathway by p53 class mediator epidermis development tissue development positive regulation of I-kappaB kinase/NF-kappaB signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 60401 245527 Ensembl ENSG00000131080 ENSMUSG00000034457 UniProt Q9HAV5 Q8BX35 RefSeq (mRNA) NM_001199687 NM_001199688 NM_001199689 NM_001242310 NM_021783 NM_001324199 NM_001324201 NM_001324202 NM_001324204 NM_001324205 NM_001324206 NM_001161432 NM_001161433 NM_175540 RefSeq (protein) NP_001186616 NP_001229239 NP_001311128 NP_001311130 NP_001311131 NP_001311133 NP_001311134 NP_001311135 NP_068555 NP_001154904 NP_001154905 NP_780749 Location (UCSC) Chr X: 66.6 – 66.64 Mb Chr X: 96.38 – 96.42 Mb PubMed search
Wikidata
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Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene.

EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Multiple alternatively spliced transcript variants have been found for this gene, but some variants lack sufficient support.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000131080 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000034457 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM (Oct 2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science. 290 (5491): 523–7. Bibcode:2000Sci...290..523Y. doi:10.1126/science.290.5491.523. PMID 11039935.
6. ^ "Entrez Gene: EDA2R ectodysplasin A2 receptor".

Further reading

• Hashimoto T, Cui CY, Schlessinger D (2006). "Repertoire of mouse ectodysplasin-A (EDA-A) isoforms". Gene. 371 (1): 42–51. doi:10.1016/j.gene.2005.11.003. PMID 16423472.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Sinha SK, Chaudhary PM (2004). "Induction of apoptosis by X-linked ectodermal dysplasia receptor via a caspase 8-dependent mechanism". J. Biol. Chem. 279 (40): 41873–81. doi:10.1074/jbc.M407363200. PMID 15280356.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Sinha SK, Zachariah S, Quiñones HI, et al. (2003). "Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor". J. Biol. Chem. 277 (47): 44953–61. doi:10.1074/jbc.M207923200. PMID 12270937.
• Naito A, Yoshida H, Nishioka E, et al. (2002). "TRAF6-deficient mice display hypohidrotic ectodermal dysplasia". Proc. Natl. Acad. Sci. U.S.A. 99 (13): 8766–71. Bibcode:2002PNAS...99.8766N. doi:10.1073/pnas.132636999. PMC 124373. PMID 12060722.

External links

• EDA2R+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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