GPR101 (G protein-coupled receptor 101)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83550
Gene name Gene Name - the full gene name approved by the HGNC.
G protein-coupled receptor 101
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GPR101
Synonyms (NCBI Gene) Gene synonyms aliases
GPCR6, PAGH2, PITA2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300393 14963 ENSG00000165370
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pituitary adenoma Pituitary adenoma, growth hormone-secreting, 2 rs1556379508 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acromegaly acromegaly N/A N/A GenCC
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease 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