GPR101 (G protein-coupled receptor 101)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 83550
Gene name G protein-coupled receptor 101
Gene symbol GPR101
Synonyms (NCBI Gene)
GPCR6PAGH2PITA2
Chromosome X
Chromosome location Xq26.3
Summary The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G pro
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1556379508 G>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300393 14963 ENSG00000165370
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96P66
Protein name Probable G-protein coupled receptor 101
Protein function Orphan receptor.
PDB 8W8Q , 8W8R , 8W8S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 48 → 454 7 transmembrane receptor (rhodopsin family) Family
Sequence
Sequence length 508
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pituitary adenoma, growth hormone-secreting, 2 Pathogenic rs1556379508 RCV000172847
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GPR101-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign rs114879480, rs73637412, rs371522625, rs140785131 RCV003978644
RCV003927490
RCV003926752
RCV003913039
X-linked acrogigantism due to Xq26 microduplication Uncertain significance rs147687583 RCV005400551
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Associate 25470569
Adrenoleukodystrophy Associate 25470569, 38006624
Dwarfism Pituitary Associate 26797872
Gigantism Associate 25470569, 26935837, 38006624, 40684399
Lymphoproliferative Syndrome X Linked 2 Associate 26671997, 26935837
Neoplasms Associate 25470569, 26797872, 35668434
Pituitary ACTH Hypersecretion Associate 35668434
Pituitary Diseases Associate 25470569
Pituitary Neoplasms Associate 25712922, 35202564, 35668434, 38006624
Progressive hearing loss stapes fixation Associate 26982009, 27245663, 35202564, 38006624, 39272130, 40684399