ADGRE2 (adhesion G protein-coupled receptor E2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 30817
Gene name Adhesion G protein-coupled receptor E2
Gene symbol ADGRE2
Synonyms (NCBI Gene)
CD312CD97EMR2VBU
Chromosome 19
Chromosome location 19p13.12
Summary 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 domai
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs199718602 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
30
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
miRTarBase ID miRNA Experiments Reference
MIRT754628 hsa-miR-3186-5p PAR-CLIP 23446348
MIRT754629 hsa-miR-1295b-3p PAR-CLIP 23446348
MIRT754630 hsa-miR-619-5p PAR-CLIP 23446348
MIRT754631 hsa-miR-6506-5p PAR-CLIP 23446348
MIRT754632 hsa-miR-6889-3p PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity TAS 15203201
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606100 3337 ENSG00000127507
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHX3
Protein name Adhesion G protein-coupled receptor E2 (EGF-like module receptor 2) (EGF-like module-containing mucin-like hormone receptor-like 2) (CD antigen CD312)
Protein 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 cytoki
PDB 2BO2 , 2BOU , 2BOX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07645 EGF_CA 67 → 117 Calcium-binding EGF domain Domain
PF07645 EGF_CA 119 → 161 Calcium-binding EGF domain Domain
PF07645 EGF_CA 163 → 210 Calcium-binding EGF domain Domain
PF07645 EGF_CA 212 → 259 Calcium-binding EGF domain Domain
PF01825 GPS 480 → 523 GPCR proteolysis site, GPS, motif Motif
PF00002 7tm_2 533 → 774 7 transmembrane receptor (Secretin family) Family
Tissue specificity 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
Sequence 
MGGRVFLVFLAFCVWLTLPGAETQDSRGCARWCPQDSSCVNATACRCNPGFSSFSEIITT
PMETCDDINECATLSKVSCGKFSDCWNTEGSYDCVCSPGYEPVSGAKTFKNESENTCQDV
DECQQNPRLCKSYGTCVNTLGSYTCQCLPGFKLKPEDPKLCTDVNECTSGQNPCHSSTHC
LNNVGSYQCRCRPGWQPIPGSPNGPNNTVCEDVDECSSGQHQCDSSTVCFNTVGSYSCRC
RPGWKPRHGIPNNQKDTVCEDMTFSTWTPPPGVHSQTLSRFFDKVQDLGRDYKPGLANNT
IQSILQALDELLEAPGDLETLPRLQQHCVASHLLDGLEDVLRGLSKNLSNGLLNFSYPAG
TELSLEVQKQVDRSVTLRQNQAVMQLDWNQAQKSGDPGPSVVGLVSIPGMGKLLAEAPLV
LEPEKQMLLHETHQGLLQDGSPILLSDVISAFLSNNDTQNLSSPVTFTFSHRSVIPRQKV
LCVFWEHGQNGCGHWATTGCSTIGTRDTSTICRCTHLSSFAVLMAHYDVQEEDPVLTVIT
YMGLSVSLLCLLLAALTFLLCKAIQNTSTSLHLQLSLCLFLAHLLFLVAIDQTGHKVLCS
IIAGTLHYLYLATLTWMLLEALYLFLTARNLTVVNYSSINRFMKKLMFPVGYGVPAVTVA
ISAASRPHLYGTPSRCWLQPEKGFIWGFLGPVCAIFSVNLVLFLVTLWILKNRLSSLNSE
VSTLRNTRMLAFKATAQLFILGCTWCLGILQVGPAARVMAYLFTIINSLQGVFIFLVYCL
LSQQVREQYGKWSKGIRKLKTESEMHTLSSSAKADTSKPSTVN
Sequence length 823
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Class B/2 (Secretin family receptors)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Vibratory urticaria Pathogenic rs199718602 RCV000207461
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ADGRE2-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant vibratory urticaria Conflicting classifications of pathogenicity; Uncertain significance; Likely benign ClinVar
CTD
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (68)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Undifferentiated Leukemia Leukemia BEFREE 31260716, 31371381
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12414513, 12761622, 22768192, 29072692
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 12414513, 12428789, 15386373, 22768192, 22797060, 29704239, 30883974, 9135025
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 25714433
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma BEFREE 9135025
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 20131275
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 15693006 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 25714433
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21174063, 29118924
★★★★★
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 30953469
★★★★★
★☆☆☆☆
Found in Text Mining only