SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9HAV5

- TNR27_HUMAN

UniProt

Q9HAV5 - TNR27_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Tumor necrosis factor receptor superfamily member 27
Gene
EDA2R, TNFRSF27, XEDAR, UNQ2448/PRO5727/PRO34080
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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 TRAF6.1 Publication

GO - Molecular functioni

  1. protein binding Source: HGNC
  2. receptor activity Source: HGNC
  3. tumor necrosis factor-activated receptor activity Source: UniProtKB

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. embryo development Source: HGNC
  3. epidermis development Source: UniProtKB
  4. positive regulation of JNK cascade Source: HGNC
  5. positive regulation of NF-kappaB transcription factor activity Source: HGNC
  6. tumor necrosis factor-mediated signaling pathway Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Receptor

Keywords - Biological processi

Differentiation

Enzyme and pathway databases

SignaLinkiQ9HAV5.

Names & Taxonomyi

Protein namesi
Recommended name:
Tumor necrosis factor receptor superfamily member 27
Alternative name(s):
X-linked ectodysplasin-A2 receptor
Short name:
EDA-A2 receptor
Gene namesi
Name:EDA2R
Synonyms:TNFRSF27, XEDAR
ORF Names:UNQ2448/PRO5727/PRO34080
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:17756. EDA2R.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 138138Extracellular Reviewed prediction
Add
BLAST
Transmembranei139 – 15921Helical; Signal-anchor for type III membrane protein; Reviewed prediction
Add
BLAST
Topological domaini160 – 297138Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: HGNC
  2. integral component of plasma membrane Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi256 – 2561E → R: Abolishes TRAF6 association. 1 Publication

Organism-specific databases

Orphaneti181. X-linked hypohidrotic ectodermal dysplasia.
PharmGKBiPA134974675.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 297297Tumor necrosis factor receptor superfamily member 27
PRO_0000058938Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi3 ↔ 15 By similarity
Disulfide bondi18 ↔ 31 By similarity
Disulfide bondi21 ↔ 41 By similarity
Disulfide bondi44 ↔ 58 By similarity
Disulfide bondi61 ↔ 75 By similarity
Disulfide bondi64 ↔ 83 By similarity
Glycosylationi74 – 741N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi86 ↔ 104 By similarity
Disulfide bondi107 ↔ 118 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9HAV5.
PRIDEiQ9HAV5.

PTM databases

PhosphoSiteiQ9HAV5.

Expressioni

Gene expression databases

ArrayExpressiQ9HAV5.
BgeeiQ9HAV5.
CleanExiHS_EDA2R.
GenevestigatoriQ9HAV5.

Organism-specific databases

HPAiCAB015945.

Interactioni

Subunit structurei

Associates with TRAF1, TRAF3 and TRAF6.

Protein-protein interaction databases

BioGridi121904. 5 interactions.
IntActiQ9HAV5. 8 interactions.
STRINGi9606.ENSP00000363851.

Structurei

3D structure databases

ProteinModelPortaliQ9HAV5.
SMRiQ9HAV5. Positions 2-93.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati2 – 4140TNFR-Cys 1
Add
BLAST
Repeati43 – 8341TNFR-Cys 2
Add
BLAST
Repeati85 – 11834TNFR-Cys 3
Add
BLAST

Sequence similaritiesi

Contains 3 TNFR-Cys repeats.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG28936.
HOGENOMiHOG000132464.
HOVERGENiHBG059312.
KOiK05163.
OMAiSFTMASC.
OrthoDBiEOG7Z3F4G.
PhylomeDBiQ9HAV5.
TreeFamiTF331385.

Family and domain databases

InterProiIPR001368. TNFR/NGFR_Cys_rich_reg.
IPR022319. TNFR_27.
[Graphical view]
PfamiPF00020. TNFR_c6. 2 hits.
[Graphical view]
PRINTSiPR01973. TNFACTORR27.
SMARTiSM00208. TNFR. 2 hits.
[Graphical view]
PROSITEiPS00652. TNFR_NGFR_1. 2 hits.
PS50050. TNFR_NGFR_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9HAV5-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MDCQENEYWD QWGRCVTCQR CGPGQELSKD CGYGEGGDAY CTACPPRRYK    50
SSWGHHRCQS CITCAVINRV QKVNCTATSN AVCGDCLPRF YRKTRIGGLQ 100
DQECIPCTKQ TPTSEVQCAF QLSLVEADTP TVPPQEATLV ALVSSLLVVF 150
TLAFLGLFFL YCKQFFNRHC QRGGLLQFEA DKTAKEESLF PVPPSKETSA 200
ESQVSENIFQ TQPLNPILED DCSSTSGFPT QESFTMASCT SESHSHWVHS 250
PIECTELDLQ KFSSSASYTG AETLGGNTVE STGDRLELNV PFEVPSP 297
Length:297
Mass (Da):32,759
Last modified:November 30, 2010 - v2
Checksum:i05DBB377DC59350C
GO
Isoform 2 (identifier: Q9HAV5-2) [UniParc]FASTAAdd to Basket

Also known as: Long

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

Show »
Length:318
Mass (Da):35,054
Checksum:iE18193A333561437
GO
Isoform 3 (identifier: Q9HAV5-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:299
Mass (Da):32,959
Checksum:i09E894E7649780C2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti57 – 571R → K.
Corresponds to variant rs1385699 [ dbSNP | Ensembl ].
VAR_044511
Natural varianti129 – 1291T → A.4 Publications
Corresponds to variant rs1385698 [ dbSNP | Ensembl ].
VAR_044512

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei172 – 1721R → REKLIIFSDPVPASLNLIPE FA in isoform 2.
VSP_011568
Alternative sequencei172 – 1721R → RVT in isoform 3.
VSP_011569

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti236 – 2361M → V in AAN73210. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS14386.1. [Q9HAV5-1]
CCDS56603.1. [Q9HAV5-2]
RefSeqiNP_001186616.1. NM_001199687.2.
NP_001229239.1. NM_001242310.1.
NP_068555.1. NM_021783.3.
UniGeneiHs.302017.

Genome annotation databases

EnsembliENST00000253392; ENSP00000253392; ENSG00000131080. [Q9HAV5-2]
ENST00000374719; ENSP00000363851; ENSG00000131080. [Q9HAV5-1]
ENST00000396050; ENSP00000379365; ENSG00000131080. [Q9HAV5-1]
ENST00000450752; ENSP00000402929; ENSG00000131080. [Q9HAV5-2]
ENST00000456230; ENSP00000393935; ENSG00000131080. [Q9HAV5-1]
GeneIDi60401.
KEGGihsa:60401.
UCSCiuc004dwq.3. human. [Q9HAV5-1]
uc004dwt.2. human. [Q9HAV5-2]
uc022byh.1. human. [Q9HAV5-3]

Polymorphism databases

DMDMi313104030.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS14386.1. [Q9HAV5-1 ]
CCDS56603.1. [Q9HAV5-2 ]
RefSeqi NP_001186616.1. NM_001199687.2.
NP_001229239.1. NM_001242310.1.
NP_068555.1. NM_021783.3.
UniGenei Hs.302017.

3D structure databases

ProteinModelPortali Q9HAV5.
SMRi Q9HAV5. Positions 2-93.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121904. 5 interactions.
IntActi Q9HAV5. 8 interactions.
STRINGi 9606.ENSP00000363851.

Chemistry

GuidetoPHARMACOLOGYi 1896.

PTM databases

PhosphoSitei Q9HAV5.

Polymorphism databases

DMDMi 313104030.

Proteomic databases

PaxDbi Q9HAV5.
PRIDEi Q9HAV5.

Protocols and materials databases

DNASUi 60401.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000253392 ; ENSP00000253392 ; ENSG00000131080 . [Q9HAV5-2 ]
ENST00000374719 ; ENSP00000363851 ; ENSG00000131080 . [Q9HAV5-1 ]
ENST00000396050 ; ENSP00000379365 ; ENSG00000131080 . [Q9HAV5-1 ]
ENST00000450752 ; ENSP00000402929 ; ENSG00000131080 . [Q9HAV5-2 ]
ENST00000456230 ; ENSP00000393935 ; ENSG00000131080 . [Q9HAV5-1 ]
GeneIDi 60401.
KEGGi hsa:60401.
UCSCi uc004dwq.3. human. [Q9HAV5-1 ]
uc004dwt.2. human. [Q9HAV5-2 ]
uc022byh.1. human. [Q9HAV5-3 ]

Organism-specific databases

CTDi 60401.
GeneCardsi GC0XM065732.
HGNCi HGNC:17756. EDA2R.
HPAi CAB015945.
MIMi 300276. gene.
neXtProti NX_Q9HAV5.
Orphaneti 181. X-linked hypohidrotic ectodermal dysplasia.
PharmGKBi PA134974675.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG28936.
HOGENOMi HOG000132464.
HOVERGENi HBG059312.
KOi K05163.
OMAi SFTMASC.
OrthoDBi EOG7Z3F4G.
PhylomeDBi Q9HAV5.
TreeFami TF331385.

Enzyme and pathway databases

SignaLinki Q9HAV5.

Miscellaneous databases

GeneWikii Ectodysplasin_A2_receptor.
GenomeRNAii 60401.
NextBioi 65314.
PROi Q9HAV5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9HAV5.
Bgeei Q9HAV5.
CleanExi HS_EDA2R.
Genevestigatori Q9HAV5.

Family and domain databases

InterProi IPR001368. TNFR/NGFR_Cys_rich_reg.
IPR022319. TNFR_27.
[Graphical view ]
Pfami PF00020. TNFR_c6. 2 hits.
[Graphical view ]
PRINTSi PR01973. TNFACTORR27.
SMARTi SM00208. TNFR. 2 hits.
[Graphical view ]
PROSITEi PS00652. TNFR_NGFR_1. 2 hits.
PS50050. TNFR_NGFR_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiTNR27_HUMAN
AccessioniPrimary (citable) accession number: Q9HAV5
Secondary accession number(s): Q5VYX9
, Q5VYY0, Q6UWM2, Q8IZA6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi