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Protein

Anthrax toxin receptor 2

Gene

ANTXR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Necessary for cellular interactions with laminin and the extracellular matrix.2 Publications

Miscellaneous

Upon binding of the protective antigen (PA) of Bacillus anthracis the complex moves to glycosphingolipid-rich lipid rafts, where it is internalized via a clathrin-dependent pathway. In the endosomal membrane, at pH under 7, the complex then rearranges and forms a pore allowing the other components of anthrax toxin to escape to the cytoplasm.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi52Divalent metal cation1
Metal bindingi54Divalent metal cation1
Metal bindingi118Divalent metal cation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionReceptor
LigandMetal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5210891 Uptake and function of anthrax toxins

Names & Taxonomyi

Protein namesi
Recommended name:
Anthrax toxin receptor 2
Alternative name(s):
Capillary morphogenesis gene 2 protein
Short name:
CMG-2
Gene namesi
Name:ANTXR2
Synonyms:CMG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000163297.16
HGNCiHGNC:21732 ANTXR2
MIMi608041 gene
neXtProtiNX_P58335

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini34 – 318ExtracellularSequence analysisAdd BLAST285
Transmembranei319 – 341HelicalSequence analysisAdd BLAST23
Topological domaini342 – 489CytoplasmicSequence analysisAdd BLAST148

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Hyaline fibromatosis syndrome (HFS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint contractures. Other patients have later onset of a milder disorder affecting only the face and digits.
See also OMIM:228600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02268745L → P in HFS; infantile form. 1 PublicationCorresponds to variant dbSNP:rs886041401Ensembl.1
Natural variantiVAR_022688105G → D in HFS. 1 PublicationCorresponds to variant dbSNP:rs137852902Ensembl.1
Natural variantiVAR_022689189I → T in HFS; infantile form. 2 PublicationsCorresponds to variant dbSNP:rs137852905Ensembl.1
Natural variantiVAR_022690218C → R in HFS; infantile form. 1 PublicationCorresponds to variant dbSNP:rs781637328Ensembl.1
Natural variantiVAR_022691293V → VQ in HFS. 1 Publication1
Natural variantiVAR_022692329L → R in HFS. 1 PublicationCorresponds to variant dbSNP:rs137852903Ensembl.1
Natural variantiVAR_022694381Y → C in HFS. 1 PublicationCorresponds to variant dbSNP:rs137852901Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi118429
GeneReviewsiANTXR2
MalaCardsiANTXR2
MIMi228600 phenotype
OpenTargetsiENSG00000163297
Orphaneti2176 Infantile systemic hyalinosis
2028 Juvenile hyaline fibromatosis
PharmGKBiPA128394752

Polymorphism and mutation databases

BioMutaiANTXR2
DMDMi306526289

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 33Sequence analysisAdd BLAST33
ChainiPRO_000000269434 – 489Anthrax toxin receptor 2Add BLAST456

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi39 ↔ 218
Modified residuei147PhosphothreonineCombined sources1
Glycosylationi250N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi260N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP58335
MaxQBiP58335
PaxDbiP58335
PeptideAtlasiP58335
PRIDEiP58335

PTM databases

iPTMnetiP58335
PhosphoSitePlusiP58335
SwissPalmiP58335

Expressioni

Tissue specificityi

Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen.1 Publication

Gene expression databases

BgeeiENSG00000163297
CleanExiHS_ANTXR2
ExpressionAtlasiP58335 baseline and differential
GenevisibleiP58335 HS

Interactioni

Subunit structurei

Binds laminin, and possibly also collagen type IV. Binds to the protective antigen (PA) of Bacillus anthracis in a divalent cation-dependent manner, with the following preference: calcium > manganese > magnesium > zinc. Binding of PA leads to heptamerization of the receptor-PA complex.

Binary interactionsi

WithEntry#Exp.IntActNotes
pagAP134237EBI-456840,EBI-456868From Bacillus anthracis.

Protein-protein interaction databases

BioGridi125602, 12 interactors
DIPiDIP-32476N
IntActiP58335, 4 interactors
MINTiP58335
STRINGi9606.ENSP00000306185

Structurei

Secondary structure

1489
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi43 – 50Combined sources8
Helixi53 – 58Combined sources6
Helixi59 – 72Combined sources14
Beta strandi78 – 96Combined sources19
Helixi99 – 110Combined sources12
Helixi120 – 134Combined sources15
Helixi136 – 138Combined sources3
Beta strandi141 – 147Combined sources7
Helixi155 – 168Combined sources14
Beta strandi172 – 177Combined sources6
Helixi183 – 189Combined sources7
Beta strandi190 – 192Combined sources3
Helixi193 – 195Combined sources3
Beta strandi196 – 201Combined sources6
Helixi204 – 215Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1SHTX-ray1.81X38-217[»]
1SHUX-ray1.50X38-218[»]
1T6BX-ray2.50Y40-212[»]
1TZNX-ray4.30a/b/c/d/e/f/g/h/i/j/k/l/m/o38-218[»]
ProteinModelPortaliP58335
SMRiP58335
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP58335

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini44 – 213VWFAPROSITE-ProRule annotationAdd BLAST170

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi352 – 360Poly-Pro9
Compositional biasi362 – 366Poly-Glu5

Domaini

Binding to PA seems to be effected through the VWA domain.

Sequence similaritiesi

Belongs to the ATR family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IK1W Eukaryota
ENOG410YC57 LUCA
GeneTreeiENSGT00430000031214
HOVERGENiHBG050514
InParanoidiP58335
KOiK20909
OMAiGLMWWFW
OrthoDBiEOG091G08TW
PhylomeDBiP58335
TreeFamiTF328943

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR017360 Anthrax_toxin_rcpt
IPR008399 Anthrax_toxin_rcpt_C
IPR008400 Anthrax_toxin_rcpt_extracel
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF05586 Ant_C, 1 hit
PF05587 Anth_Ig, 1 hit
PF00092 VWA, 1 hit
PIRSFiPIRSF038023 Anthrax_toxin_receptor_2, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD377005 Anthrax_toxin_rcpt_C, 1 hit
SMARTiView protein in SMART
SM00327 VWA, 1 hit
SUPFAMiSSF53300 SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P58335-1) [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

        10         20         30         40         50
MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD
60 70 80 90 100
KSGSVANNWI EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG
110 120 130 140 150
KISKGLEDLK RVSPVGETYI HEGLKLANEQ IQKAGGLKTS SIIIALTDGK
160 170 180 190 200
LDGLVPSYAE KEAKISRSLG ASVYCVGVLD FEQAQLERIA DSKEQVFPVK
210 220 230 240 250
GGFQALKGII NSILAQSCTE ILELQPSSVC VGEEFQIVLS GRGFMLGSRN
260 270 280 290 300
GSVLCTYTVN ETYTTSVKPV SVQLNSMLCP APILNKAGET LDVSVSFNGG
310 320 330 340 350
KSVISGSLIV TATECSNGIA AIIVILVLLL LLGIGLMWWF WPLCCKVVIK
360 370 380 390 400
DPPPPPAPAP KEEEEEPLPT KKWPTVDASY YGGRGVGGIK RMEVRWGDKG
410 420 430 440 450
STEEGARLEK AKNAVVKIPE ETEEPIRPRP PRPKPTHQPP QTKWYTPIKG
460 470 480
RLDALWALLR RQYDRVSLMR PQEGDEVCIW ECIEKELTA
Length:489
Mass (Da):53,666
Last modified:October 5, 2010 - v5
Checksum:iB9F66CCE7A13F807
GO
Isoform 2 (identifier: P58335-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     213-315: Missing.

Show »
Length:386
Mass (Da):42,893
Checksum:i0F9B3873874FABCA
GO
Isoform 3 (identifier: P58335-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     290-322: TLDVSVSFNGGKSVISGSLIVTATECSNGIAAI → WGLTVTQAGVKWHDLTHCTFGLSGSGDPPTSAS
     323-489: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:322
Mass (Da):34,763
Checksum:i19D061AAFBE6CFF8
GO
Isoform 4 (identifier: P58335-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     477-489: VCIWECIEKELTA → GRCINFSRVPSQ

Show »
Length:488
Mass (Da):53,493
Checksum:i1FE0F51BE9FDE0F6
GO

Sequence cautioni

The sequence AAY40907 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAB70976 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD93150 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02268745L → P in HFS; infantile form. 1 PublicationCorresponds to variant dbSNP:rs886041401Ensembl.1
Natural variantiVAR_022688105G → D in HFS. 1 PublicationCorresponds to variant dbSNP:rs137852902Ensembl.1
Natural variantiVAR_022689189I → T in HFS; infantile form. 2 PublicationsCorresponds to variant dbSNP:rs137852905Ensembl.1
Natural variantiVAR_022690218C → R in HFS; infantile form. 1 PublicationCorresponds to variant dbSNP:rs781637328Ensembl.1
Natural variantiVAR_022691293V → VQ in HFS. 1 Publication1
Natural variantiVAR_022692329L → R in HFS. 1 PublicationCorresponds to variant dbSNP:rs137852903Ensembl.1
Natural variantiVAR_022693357A → P5 PublicationsCorresponds to variant dbSNP:rs12647691Ensembl.1
Natural variantiVAR_022694381Y → C in HFS. 1 PublicationCorresponds to variant dbSNP:rs137852901Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008343213 – 315Missing in isoform 2. 1 PublicationAdd BLAST103
Alternative sequenceiVSP_008344290 – 322TLDVS…GIAAI → WGLTVTQAGVKWHDLTHCTF GLSGSGDPPTSAS in isoform 3. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_008345323 – 489Missing in isoform 3. 1 PublicationAdd BLAST167
Alternative sequenceiVSP_008346477 – 489VCIWE…KELTA → GRCINFSRVPSQ in isoform 4. 4 PublicationsAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY040326 mRNA Translation: AAK77222.1
AY233452 mRNA Translation: AAP04016.1
AK055636 mRNA Translation: BAB70976.1 Different initiation.
AK091721 mRNA Translation: BAC03731.1
AB209913 mRNA Translation: BAD93150.1 Different initiation.
AC097711 Genomic DNA Translation: AAY40907.1 Sequence problems.
AC109518 Genomic DNA No translation available.
AC114773 Genomic DNA No translation available.
AL832851 mRNA Translation: CAI46157.2
BC034001 mRNA Translation: AAH34001.2
CCDSiCCDS47085.1 [P58335-4]
CCDS47086.1 [P58335-1]
RefSeqiNP_001139266.1, NM_001145794.1 [P58335-1]
NP_001273709.1, NM_001286780.1
NP_001273710.1, NM_001286781.1
NP_477520.2, NM_058172.5 [P58335-4]
UniGeneiHs.162963

Genome annotation databases

EnsembliENST00000307333; ENSP00000306185; ENSG00000163297 [P58335-1]
ENST00000346652; ENSP00000314883; ENSG00000163297 [P58335-2]
ENST00000403729; ENSP00000385575; ENSG00000163297 [P58335-4]
GeneIDi118429
KEGGihsa:118429
UCSCiuc003hly.5 human [P58335-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiANTR2_HUMAN
AccessioniPrimary (citable) accession number: P58335
Secondary accession number(s): Q4W5H6
, Q59E98, Q5JPE9, Q86UI1, Q8N4J8, Q8NB13, Q96NC7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: October 5, 2010
Last modified: February 28, 2018
This is version 169 of the entry and version 5 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health