Q9HAV5 (TNR27_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Tumor necrosis factor receptor superfamily member 27

Alternative name(s):
X-linked ectodysplasin-A2 receptor
Short name=EDA-A2 receptor

Gene names

Name:	EDA2R
Synonyms:	TNFRSF27, XEDAR
ORF Names:	UNQ2448/PRO5727/PRO34080

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	297 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6. Ref.2
Subunit structure	Associates with TRAF1, TRAF3 and TRAF6.
Subcellular location	Membrane; Single-pass type III membrane protein.
Sequence similarities	Contains 3 TNFR-Cys repeats.

Ontologies

Keywords
Biological process	Differentiation
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Molecular function	Developmental protein Receptor
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW embryo development Non-traceable author statement Ref.2. Source: HGNC epidermis development Non-traceable author statement Ref.1. Source: UniProtKB positive regulation of JNK cascade Inferred from direct assay Ref.2. Source: HGNC positive regulation of NF-kappaB transcription factor activity Inferred from direct assay Ref.1. Source: HGNC
Cellular_component	integral to membrane Inferred by curator Ref.2. Source: HGNC integral to plasma membrane Inferred from electronic annotation. Source: InterPro
Molecular_function	tumor necrosis factor-activated receptor activity Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9HAV5-1)

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.

Isoform 2 (identifier: Q9HAV5-2)

Also known as: Long;

The sequence of this isoform differs from the canonical sequence as follows:
     172-172: R → REKLIIFSDPVPASLNLIPEFA

Isoform 3 (identifier: Q9HAV5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     172-172: R → RVT

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 297	297	Tumor necrosis factor receptor superfamily member 27		PRO_0000058938
Regions
	Topological domain	1 – 138	138	Extracellular Potential
	Transmembrane	139 – 159	21	Helical; Signal-anchor for type III membrane protein; Potential
	Topological domain	160 – 297	138	Cytoplasmic Potential
	Repeat	2 – 41	40	TNFR-Cys 1
	Repeat	43 – 83	41	TNFR-Cys 2
	Repeat	85 – 118	34	TNFR-Cys 3
Amino acid modifications
	Glycosylation	74	1	N-linked (GlcNAc...) Potential
	Disulfide bond	3 ↔ 15		By similarity
	Disulfide bond	18 ↔ 31		By similarity
	Disulfide bond	21 ↔ 41		By similarity
	Disulfide bond	44 ↔ 58		By similarity
	Disulfide bond	61 ↔ 75		By similarity
	Disulfide bond	64 ↔ 83		By similarity
	Disulfide bond	86 ↔ 104		By similarity
	Disulfide bond	107 ↔ 118		By similarity
Natural variations
	Alternative sequence	172	1	R → REKLIIFSDPVPASLNLIPE FA in isoform 2.		VSP_011568
	Alternative sequence	172	1	R → RVT in isoform 3.		VSP_011569
	Natural variant	57	1	R → K. Corresponds to variant rs1385699 [ dbSNP | Ensembl ].		VAR_044511
	Natural variant	129	1	T → A. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs1385698 [ dbSNP | Ensembl ].		VAR_044512
Experimental info
	Mutagenesis	256	1	E → R: Abolishes TRAF6 association. Ref.1
	Sequence conflict	236	1	M → V in AAN73210. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 30, 2010. Version 2. Checksum: 05DBB377DC59350C	FASTA	297	32,759
	10 20 30 40 50 60 MDCQENEYWD QWGRCVTCQR CGPGQELSKD CGYGEGGDAY CTACPPRRYK SSWGHHRCQS 70 80 90 100 110 120 CITCAVINRV QKVNCTATSN AVCGDCLPRF YRKTRIGGLQ DQECIPCTKQ TPTSEVQCAF 130 140 150 160 170 180 QLSLVEADTP TVPPQEATLV ALVSSLLVVF TLAFLGLFFL YCKQFFNRHC QRGGLLQFEA 190 200 210 220 230 240 DKTAKEESLF PVPPSKETSA ESQVSENIFQ TQPLNPILED DCSSTSGFPT QESFTMASCT 250 260 270 280 290 SESHSHWVHS PIECTELDLQ KFSSSASYTG AETLGGNTVE STGDRLELNV PFEVPSP
	Isoform 2 (Long) [UniParc]. Checksum: E18193A333561437	FASTA	318	35,054
	10 20 30 40 50 60 MDCQENEYWD QWGRCVTCQR CGPGQELSKD CGYGEGGDAY CTACPPRRYK SSWGHHRCQS 70 80 90 100 110 120 CITCAVINRV QKVNCTATSN AVCGDCLPRF YRKTRIGGLQ DQECIPCTKQ TPTSEVQCAF 130 140 150 160 170 180 QLSLVEADTP TVPPQEATLV ALVSSLLVVF TLAFLGLFFL YCKQFFNRHC QREKLIIFSD 190 200 210 220 230 240 PVPASLNLIP EFAGGLLQFE ADKTAKEESL FPVPPSKETS AESQVSENIF QTQPLNPILE 250 260 270 280 290 300 DDCSSTSGFP TQESFTMASC TSESHSHWVH SPIECTELDL QKFSSSASYT GAETLGGNTV 310 ESTGDRLELN VPFEVPSP
	Isoform 3 [UniParc]. Checksum: 09E894E7649780C2	FASTA	299	32,959
	10 20 30 40 50 60 MDCQENEYWD QWGRCVTCQR CGPGQELSKD CGYGEGGDAY CTACPPRRYK SSWGHHRCQS 70 80 90 100 110 120 CITCAVINRV QKVNCTATSN AVCGDCLPRF YRKTRIGGLQ DQECIPCTKQ TPTSEVQCAF 130 140 150 160 170 180 QLSLVEADTP TVPPQEATLV ALVSSLLVVF TLAFLGLFFL YCKQFFNRHC QRVTGGLLQF 190 200 210 220 230 240 EADKTAKEES LFPVPPSKET SAESQVSENI FQTQPLNPIL EDDCSSTSGF PTQESFTMAS 250 260 270 280 290 CTSESHSHWV HSPIECTELD LQKFSSSASY TGAETLGGNT VESTGDRLEL NVPFEVPSP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors." Yan M., Wang L.-C., Hymowitz S.G., Schilbach S., Lee J., Goddard A., de Vos A.M., Gao W.-Q., Dixit V.M. Science 290:523-527(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), MUTAGENESIS OF GLU-256, VARIANT ALA-129. Tissue: Fetal kidney.
[2]	"Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor." Sinha S.K., Zachariah S., Quinones H.I., Shindo M., Chaudhary P.M. J. Biol. Chem. 277:44953-44961(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, VARIANT ALA-129.
[3]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ALA-129.
[4]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-129. Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF298812 mRNA. Translation: AAG28761.1. AY152724 mRNA. Translation: AAN73210.1. AY358735 mRNA. Translation: AAQ89952.1. AY358736 mRNA. Translation: AAQ89953.1. AL353136 Genomic DNA. Translation: CAH70433.1. AL353136 Genomic DNA. Translation: CAH70434.1. BC034919 mRNA. Translation: AAH34919.1.
IPI	IPI00029116. IPI00456756. IPI00456757.
RefSeq	NP_001186616.1. NM_001199687.2. NP_001229239.1. NM_001242310.1. NP_068555.1. NM_021783.3.
UniGene	Hs.302017.
3D structure databases
ProteinModelPortal	Q9HAV5.
SMR	Q9HAV5. Positions 2-116.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HAV5. 8 interactions.
STRING	9606.ENSP00000363851.
PTM databases
PhosphoSite	Q9HAV5.
Proteomic databases
PaxDb	Q9HAV5.
PRIDE	Q9HAV5.
Protocols and materials databases
DNASU	60401.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000253392; ENSP00000253392; ENSG00000131080. ENST00000374719; ENSP00000363851; ENSG00000131080. ENST00000396050; ENSP00000379365; ENSG00000131080. ENST00000450752; ENSP00000402929; ENSG00000131080. ENST00000456230; ENSP00000393935; ENSG00000131080.
GeneID	60401.
KEGG	hsa:60401.
UCSC	uc004dwq.3. human. uc004dwt.2. human. uc022byh.1. human.
Organism-specific databases
CTD	60401.
GeneCards	GC0XM065732.
HGNC	HGNC:17756. EDA2R.
HPA	CAB015945.
MIM	300276. gene.
neXtProt	NX_Q9HAV5.
PharmGKB	PA134974675.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG28936.
HOGENOM	HOG000132464.
HOVERGEN	HBG059312.
KO	K05163.
OMA	SFTMASC.
OrthoDB	EOG47WNP3.
Gene expression databases
ArrayExpress	Q9HAV5.
Bgee	Q9HAV5.
CleanEx	HS_EDA2R.
Genevestigator	Q9HAV5.
GermOnline	ENSG00000131080. Homo sapiens.
Family and domain databases
InterPro	IPR001368. TNFR/NGFR_Cys_rich_reg. IPR022319. TNFR_27. [Graphical view]
Pfam	PF00020. TNFR_c6. 2 hits. [Graphical view]
PRINTS	PR01973. TNFACTORR27.
SMART	SM00208. TNFR. 2 hits. [Graphical view]
PROSITE	PS00652. TNFR_NGFR_1. 2 hits. PS50050. TNFR_NGFR_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	60401.
NextBio	65314.
SOURCE	Search...

Entry information

Entry name

TNR27_HUMAN

Accession

Primary (citable) accession number: Q9HAV5
Secondary accession number(s): Q5VYX9 , Q5VYY0, Q6UWM2, Q8IZA6

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 27, 2002
Last sequence update:	November 30, 2010
Last modified:	May 1, 2013
This is version 102 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.