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Q9HAV5 (TNR27_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length297 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 297297Tumor necrosis factor receptor superfamily member 27
PRO_0000058938

Regions

Topological domain1 – 138138Extracellular Potential
Transmembrane139 – 15921Helical; Signal-anchor for type III membrane protein; Potential
Topological domain160 – 297138Cytoplasmic Potential
Repeat2 – 4140TNFR-Cys 1
Repeat43 – 8341TNFR-Cys 2
Repeat85 – 11834TNFR-Cys 3

Amino acid modifications

Glycosylation741N-linked (GlcNAc...) Potential
Disulfide bond3 ↔ 15 By similarity
Disulfide bond18 ↔ 31 By similarity
Disulfide bond21 ↔ 41 By similarity
Disulfide bond44 ↔ 58 By similarity
Disulfide bond61 ↔ 75 By similarity
Disulfide bond64 ↔ 83 By similarity
Disulfide bond86 ↔ 104 By similarity
Disulfide bond107 ↔ 118 By similarity

Natural variations

Alternative sequence1721R → REKLIIFSDPVPASLNLIPE FA in isoform 2.
VSP_011568
Alternative sequence1721R → RVT in isoform 3.
VSP_011569
Natural variant571R → K.
Corresponds to variant rs1385699 [ dbSNP | Ensembl ].
VAR_044511
Natural variant1291T → A. Ref.1 Ref.2 Ref.3 Ref.5
Corresponds to variant rs1385698 [ dbSNP | Ensembl ].
VAR_044512

Experimental info

Mutagenesis2561E → R: Abolishes TRAF6 association. Ref.1
Sequence conflict2361M → V in AAN73210. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 30, 2010. Version 2.
Checksum: 05DBB377DC59350C

FASTA29732,759
        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 

« Hide

Isoform 2 (Long) [UniParc].

Checksum: E18193A333561437
Show »

FASTA31835,054
Isoform 3 [UniParc].

Checksum: 09E894E7649780C2
Show »

FASTA29932,959

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_001186616.1. NM_001199687.2.
NP_001229239.1. NM_001242310.1.
NP_068555.1. NM_021783.3.
UniGeneHs.302017.

3D structure databases

ProteinModelPortalQ9HAV5.
SMRQ9HAV5. Positions 2-93.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121904. 5 interactions.
IntActQ9HAV5. 8 interactions.
STRING9606.ENSP00000363851.

Chemistry

GuidetoPHARMACOLOGY1896.

PTM databases

PhosphoSiteQ9HAV5.

Polymorphism databases

DMDM313104030.

Proteomic databases

PaxDbQ9HAV5.
PRIDEQ9HAV5.

Protocols and materials databases

DNASU60401.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000253392; ENSP00000253392; ENSG00000131080. [Q9HAV5-2]
ENST00000374719; ENSP00000363851; ENSG00000131080. [Q9HAV5-1]
ENST00000396050; ENSP00000379365; ENSG00000131080. [Q9HAV5-1]
ENST00000450752; ENSP00000402929; ENSG00000131080. [Q9HAV5-2]
ENST00000456230; ENSP00000393935; ENSG00000131080. [Q9HAV5-1]
GeneID60401.
KEGGhsa:60401.
UCSCuc004dwq.3. human. [Q9HAV5-1]
uc004dwt.2. human. [Q9HAV5-2]
uc022byh.1. human. [Q9HAV5-3]

Organism-specific databases

CTD60401.
GeneCardsGC0XM065732.
HGNCHGNC:17756. EDA2R.
HPACAB015945.
MIM300276. gene.
neXtProtNX_Q9HAV5.
Orphanet181. X-linked hypohidrotic ectodermal dysplasia.
PharmGKBPA134974675.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG28936.
HOGENOMHOG000132464.
HOVERGENHBG059312.
KOK05163.
OMASFTMASC.
OrthoDBEOG7Z3F4G.
PhylomeDBQ9HAV5.
TreeFamTF331385.

Enzyme and pathway databases

SignaLinkQ9HAV5.

Gene expression databases

ArrayExpressQ9HAV5.
BgeeQ9HAV5.
CleanExHS_EDA2R.
GenevestigatorQ9HAV5.

Family and domain databases

InterProIPR001368. TNFR/NGFR_Cys_rich_reg.
IPR022319. TNFR_27.
[Graphical view]
PfamPF00020. TNFR_c6. 2 hits.
[Graphical view]
PRINTSPR01973. TNFACTORR27.
SMARTSM00208. TNFR. 2 hits.
[Graphical view]
PROSITEPS00652. TNFR_NGFR_1. 2 hits.
PS50050. TNFR_NGFR_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiEctodysplasin_A2_receptor.
GenomeRNAi60401.
NextBio65314.
PROQ9HAV5.
SOURCESearch...

Entry information

Entry nameTNR27_HUMAN
AccessionPrimary (citable) accession number: Q9HAV5
Secondary accession number(s): Q5VYX9 expand/collapse secondary AC list , Q5VYY0, Q6UWM2, Q8IZA6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: November 30, 2010
Last modified: April 16, 2014
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM