Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ADGRE2 Gene

Aliases for ADGRE2 Gene

  • Adhesion G Protein-Coupled Receptor E2 2 3 5
  • Egf-Like Module Containing, Mucin-Like, Hormone Receptor-Like 2 2 3
  • EGF-Like Module-Containing Mucin-Like Hormone Receptor-Like 2 3 4
  • EMR2 3 4
  • Egf-Like Module Containing, Mucin-Like, Hormone Receptor-Like Sequence 2 2
  • EGF-Like Module Receptor 2 4
  • CD312 Antigen 4
  • CD312 3
  • VBU 3

External Ids for ADGRE2 Gene

Previous HGNC Symbols for ADGRE2 Gene

  • EMR2

Summaries for ADGRE2 Gene

Entrez Gene Summary for ADGRE2 Gene

  • This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

GeneCards Summary for ADGRE2 Gene

ADGRE2 (Adhesion G Protein-Coupled Receptor E2) is a Protein Coding gene. Diseases associated with ADGRE2 include Vibratory Urticaria and Urticaria. Among its related pathways are Peptide ligand-binding receptors and Presynaptic function of Kainate receptors. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is ADGRE5.

UniProtKB/Swiss-Prot for ADGRE2 Gene

  • Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Signals probably through G-proteins. Is a regulator of mast cell degranulation (PubMed:26841242).

Gene Wiki entry for ADGRE2 Gene

Additional gene information for ADGRE2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADGRE2 Gene

Genomics for ADGRE2 Gene

GeneHancer (GH) Regulatory Elements for ADGRE2 Gene

Promoters and enhancers for ADGRE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I014775 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 573.1 +2.1 2133 2.1 CLOCK ATF1 SIN3A POLR2B ZNF766 GLIS2 ATF7 RUNX3 SP3 NCOA1 ADGRE2 OR7C1 ZNF333 GC19M014744
GH19I014778 Promoter/Enhancer 0.7 EPDnew Ensembl 555.4 +0.1 136 0.4 ADGRE2 OR7C1 ZNF333 GC19M014744
GH19I014415 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 +360.6 360619 5.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B DDX39A AKAP8 BRD4 DCAF15 RFX1 CCDC130 GIPC1 ADGRE2 ZNF333 DNAJB1
GH19I014782 Enhancer 1.5 FANTOM5 Ensembl ENCODE 19.9 -6.3 -6319 4 HDGF ATF1 PKNOX1 ARNT ZNF2 ZBTB7B TCF12 ZNF121 ZNF766 CBX5 DCAF15 DDX39A RFX1 ADGRE2 AKAP8 BRD4 OR7C1 ADGRE5 ZNF333 ADGRE3
GH19I014354 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.9 +422.5 422492 2.1 HDAC1 HDGF ARNT TCF12 ZNF121 EGR1 RUNX3 SMARCA5 CEBPB NCOA1 ADGRE2 ADGRE5 SNRPGP15 DNAJB1 LINC01842 ZNF333 PKN1 DCAF15 RFX1 DDX39A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADGRE2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ADGRE2 Gene

Genomic Locations for ADGRE2 Gene
chr19:14,724,170-14,778,541
(GRCh38/hg38)
Size:
54,372 bases
Orientation:
Minus strand
chr19:14,843,205-14,889,353
(GRCh37/hg19)

Genomic View for ADGRE2 Gene

Genes around ADGRE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADGRE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADGRE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADGRE2 Gene

Proteins for ADGRE2 Gene

  • Protein details for ADGRE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHX3-AGRE2_HUMAN
    Recommended name:
    Adhesion G protein-coupled receptor E2
    Protein Accession:
    Q9UHX3
    Secondary Accessions:
    • B4DQ96
    • E7ESD7
    • E9PBR1
    • E9PEL6
    • E9PFQ5
    • E9PG91
    • Q8NG96
    • Q9Y4B1

    Protein attributes for ADGRE2 Gene

    Size:
    823 amino acids
    Molecular mass:
    90472 Da
    Quaternary structure:
    • Forms a heterodimer, consisting of a large extracellular region non-covalently linked to a seven-transmembrane moiety. Interacts with chondroitin sulfate; the interaction with chondroitin sulfate is calcium-dependent. Interacts with CD55.
    Miscellaneous:
    • Has no murine ortholog.
    SequenceCaution:
    • Sequence=BAC06146.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADGRE2 Gene

    Alternative splice isoforms for ADGRE2 Gene

neXtProt entry for ADGRE2 Gene

Post-translational modifications for ADGRE2 Gene

  • Autoproteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane beta subunit.
  • Glycosylation at Asn41, Asn111, posLast=206206, Asn298, Asn347, Asn354, posLast=456456, and posLast=460460
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ADGRE2 Gene

Domains & Families for ADGRE2 Gene

Gene Families for ADGRE2 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • G-protein coupled receptors
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q9UHX3

UniProtKB/Swiss-Prot:

AGRE2_HUMAN :
  • The GPS domain is necessary, but not sufficient for receptor cleavage, which require the entire extracellular stalk.
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
Domain:
  • The GPS domain is necessary, but not sufficient for receptor cleavage, which require the entire extracellular stalk.
  • Binding to chondroitin sulfate is mediated by the fourth EGF domain.
Family:
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
genes like me logo Genes that share domains with ADGRE2: view

Function for ADGRE2 Gene

Molecular function for ADGRE2 Gene

UniProtKB/Swiss-Prot Function:
Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Signals probably through G-proteins. Is a regulator of mast cell degranulation (PubMed:26841242).

Phenotypes From GWAS Catalog for ADGRE2 Gene

Gene Ontology (GO) - Molecular Function for ADGRE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0035374 chondroitin sulfate binding IMP 12829604
genes like me logo Genes that share ontologies with ADGRE2: view
genes like me logo Genes that share phenotypes with ADGRE2: view

Human Phenotype Ontology for ADGRE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ADGRE2 Gene

miRTarBase miRNAs that target ADGRE2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ADGRE2 Gene

Localization for ADGRE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADGRE2 Gene

Cell membrane; Multi-pass membrane protein. Cell projection, ruffle membrane; Multi-pass membrane protein. Note=Localized at the leading edge of migrating cells. {ECO:0000269 PubMed:17928360}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADGRE2 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADGRE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031256 leading edge membrane IDA 17928360
GO:0032587 ruffle membrane IEA --
genes like me logo Genes that share ontologies with ADGRE2: view

Pathways & Interactions for ADGRE2 Gene

genes like me logo Genes that share pathways with ADGRE2: view

Pathways by source for ADGRE2 Gene

Interacting Proteins for ADGRE2 Gene

Gene Ontology (GO) - Biological Process for ADGRE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IEA --
GO:0007155 cell adhesion IMP 12829604
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with ADGRE2: view

No data available for SIGNOR curated interactions for ADGRE2 Gene

Drugs & Compounds for ADGRE2 Gene

(1) Drugs for ADGRE2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ADGRE2: view

Transcripts for ADGRE2 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADGRE2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: - -
SP2: - -
SP3: - - - -
SP4: - - - -
SP5:

Relevant External Links for ADGRE2 Gene

GeneLoc Exon Structure for
ADGRE2
ECgene alternative splicing isoforms for
ADGRE2

Expression for ADGRE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADGRE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADGRE2 Gene

This gene is overexpressed in Monocytes (27.4), Spleen (24.7), and Liver (14.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADGRE2 Gene



Protein tissue co-expression partners for ADGRE2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADGRE2 Gene:

ADGRE2

mRNA Expression by UniProt/SwissProt for ADGRE2 Gene:

Q9UHX3-AGRE2_HUMAN
Tissue specificity: Expression is restricted to myeloid cells. Highest expression was found in peripheral blood leukocytes, followed by spleen and lymph nodes, with intermediate to low levels in thymus, bone marrow, fetal liver, placenta, and lung, and no expression in heart, brain, skeletal muscle, kidney, or pancreas. Expression is also detected in monocyte/macrophage and Jurkat cell lines but not in other cell lines tested. High expression in mast cells (PubMed:26841242).

Evidence on tissue expression from TISSUES for ADGRE2 Gene

  • Blood(2.2)
genes like me logo Genes that share expression patterns with ADGRE2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADGRE2 Gene

Orthologs for ADGRE2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADGRE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMR2 33 34
  • 96.36 (n)
dog
(Canis familiaris)
Mammalia EMR2 33 34
  • 81.44 (n)
-- 34
  • 64 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 77 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 46 (a)
ManyToMany
-- 34
  • 41 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 40 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 35 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-9c18.6 34
  • 28 (a)
ManyToMany
Species where no ortholog for ADGRE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADGRE2 Gene

ENSEMBL:
Gene Tree for ADGRE2 (if available)
TreeFam:
Gene Tree for ADGRE2 (if available)

Paralogs for ADGRE2 Gene

Paralogs for ADGRE2 Gene

Pseudogenes.org Pseudogenes for ADGRE2 Gene

genes like me logo Genes that share paralogs with ADGRE2: view

Variants for ADGRE2 Gene

Sequence variations from dbSNP and Humsavar for ADGRE2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs199718602 pathogenic, Vibratory urticaria, Vibratory urticaria (VBU) [MIM:125630] 14,755,069(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs12976472 not-provided, not provided 14,766,987(-) G/C coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000013688 -- 14,779,783(-) A/G upstream_transcript_variant
rs1000073964 -- 14,780,050(-) G/A upstream_transcript_variant
rs1000082572 -- 14,774,452(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ADGRE2 Gene

Variant ID Type Subtype PubMed ID
esv1001961 CNV insertion 20482838
esv2656782 CNV deletion 23128226
esv3342641 CNV duplication 20981092
esv3643750 CNV loss 21293372
esv3893167 CNV gain 25118596
nsv458357 CNV loss 19166990
nsv509722 CNV insertion 20534489
nsv578680 CNV loss 21841781
nsv953982 CNV deletion 24416366
nsv954652 CNV deletion 24416366
nsv961186 CNV duplication 23825009

Variation tolerance for ADGRE2 Gene

Residual Variation Intolerance Score: 99.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.98; 79.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADGRE2 Gene

Human Gene Mutation Database (HGMD)
ADGRE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADGRE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADGRE2 Gene

Disorders for ADGRE2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ADGRE2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vibratory urticaria
  • vbu
urticaria
vertebrobasilar insufficiency
  • vertebro-basilar insufficiency
physical urticaria
  • symptomatic dermographism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AGRE2_HUMAN
  • Vibratory urticaria (VBU) [MIM:125630]: An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. {ECO:0000269 PubMed:26841242}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADGRE2

genes like me logo Genes that share disorders with ADGRE2: view

No data available for Genatlas for ADGRE2 Gene

Publications for ADGRE2 Gene

  1. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J … Schiöth HB (Pharmacological reviews 2015) 2 3 4 58
  2. Ligation of the adhesion-GPCR EMR2 regulates human neutrophil function. (PMID: 17928360) Yona S … Stacey M (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008) 3 4 22 58
  3. The epidermal growth factor-like domains of the human EMR2 receptor mediate cell attachment through chondroitin sulfate glycosaminoglycans. (PMID: 12829604) Stacey M … Lin HH (Blood 2003) 3 4 22 58
  4. The human EGF-TM7 family member EMR2 is a heterodimeric receptor expressed on myeloid cells. (PMID: 11994511) Kwakkenbos MJ … Hamann J (Journal of leukocyte biology 2002) 3 4 22 58
  5. Human EMR2, a novel EGF-TM7 molecule on chromosome 19p13.1, is closely related to CD97. (PMID: 10903844) Lin HH … McKnight AJ (Genomics 2000) 3 4 22 58

Products for ADGRE2 Gene

Sources for ADGRE2 Gene

Content
Loading form....