Gene Gene information from NCBI Gene database.
Entrez ID 2856
Gene name G protein-coupled receptor 33
Gene symbol GPR33
Synonyms (NCBI Gene)
-
Chromosome 14
Chromosome location 14q12
Summary This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population h
miRNA miRNA information provided by mirtarbase database.
3
miRTarBase ID miRNA Experiments Reference
MIRT1031324 hsa-miR-4303 CLIP-seq
MIRT1031325 hsa-miR-4682 CLIP-seq
MIRT1031326 hsa-miR-513a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0002430 Process Complement receptor mediated signaling pathway IBA
GO:0004875 Function Complement receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610118 4489 ENSG00000214943
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q49SQ1
Protein name Probable G-protein coupled receptor 33
Protein function Orphan receptor; could be a chemoattractant receptor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 46 299 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in spleen, lung, heart, liver, kidney, pancreas, thymus, gonads and leukocytes. {ECO:0000269|PubMed:15987686}.
Sequence
Sequence length 333
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex with nail dystrophy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations