ENSG00000127507
Homo sapiens | |
Features
| Gene ID: | ENSG00000127507 | | | | | Biological name : | ADGRE2 | | | | | Synonyms : | ADGRE2 / adhesion G protein-coupled receptor E2 / Q9UHX3 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | -1 | | Band: | p13.12 | | Gene start: | 14732393 | | Gene end: | 14778541 | | | | | Corresponding Affymetrix probe sets: | 207610_s_at (Human Genome U133 Plus 2.0 Array) 232009_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000472280
Ensembl peptide - ENSP00000471297
Ensembl peptide - ENSP00000472735
Ensembl peptide - ENSP00000319883
Ensembl peptide - ENSP00000376689
Ensembl peptide - ENSP00000376692
Ensembl peptide - ENSP00000469277
Ensembl peptide - ENSP00000469605
Ensembl peptide - ENSP00000470725
NCBI entrez gene - 30817
See in Manteia.
OMIM - 606100
RefSeq - XM_017026727
RefSeq - XM_011527951
RefSeq - XM_011527952
RefSeq - XM_011527953
RefSeq - XM_011527954
RefSeq - XM_011527955
RefSeq - XM_017026726
RefSeq - NM_001271052
RefSeq - NM_013447
RefSeq - XM_011527948
RefSeq - XM_011527949
RefSeq Peptide - NP_001257981
RefSeq Peptide - NP_038475
swissprot - M0QY55
swissprot - M0R0K5
swissprot - Q9UHX3
swissprot - B4DWB8
Ensembl - ENSG00000127507
| | | | | Related genetic diseases (OMIM): | 125630 - Vibratory urticaria, 125630 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000152 | EGF-type aspartate/asparagine hydroxylation site | | IPR000203 | GPS motif | | IPR000742 | EGF-like domain | | IPR000832 | GPCR, family 2, secretin-like | | IPR001740 | GPCR family 2, EMR1-like receptor | | IPR001881 | EGF-like calcium-binding domain | | IPR003056 | GPCR, family 2, CD97 antigen | | IPR009030 | Growth factor receptor cysteine-rich domain superfamily | | IPR017981 | GPCR, family 2-like | | IPR017983 | GPCR, family 2, secretin-like, conserved site | | IPR018097 | EGF-like calcium-binding, conserved site |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0001025 | Urticaria | |
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| | HP:0001041 | Facial erythema | |
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| | HP:0031284 | Flushing | "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." [] |
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Interacting proteins (from Reactome)
No match
0 s.
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