GPR101

G protein-coupled receptor 101, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): X:137023929-137033995

Links

ENSG00000165370 ∙ NCBI:83550 ∙ OMIM:300393 ∙ HGNC:14963 ∙ Uniprot:Q96P66 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• pituitary adenoma, growth hormone-secreting, 2 (Strong), mode of inheritance: XL

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Pituitary adenoma, growth hormone secreting, 2	XL	Endocrine	Surveillance and/or awareness of cancer risk may allow early diagnosis of pituitary tumors (as well as related manifestations, such as hypertension, hypogonadism, diabetes mellitus, and osteoporosis), which could potentially be beneficial to allow early medical (eg, with somatostatin analogs, growth hormone receptor antagonists, dopamine agonists) or surgical treatment; Surveillance post-treatment may also be beneficial to detect recurrence/new adenomas	Endocrine	25470569; 25806920
The condition can involve microduplications including the gene

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR101 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR101 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				10	3	13
missense			22	3	6	31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	13	9

Variants in GPR101

This is a list of pathogenic ClinVar variants found in the GPR101 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-137030150-A-G			Likely benign (Jun 06, 2018)
X-137030169-G-A			Benign (Dec 02, 2022)
X-137030182-A-G		not specified	Uncertain significance (Sep 27, 2021)
X-137030346-G-A			Likely benign (Jul 01, 2022)
X-137030363-T-C			Uncertain significance (Oct 22, 2023)
X-137030381-G-A		GPR101-related disorder	Benign/Likely benign (Jan 16, 2024)
X-137030382-T-C			Likely benign (Jan 24, 2018)
X-137030420-C-A			Uncertain significance (Dec 06, 2023)
X-137030450-C-T			Benign (Jun 27, 2023)
X-137030515-G-C		not specified	Uncertain significance (Dec 12, 2023)
X-137030519-T-G			Uncertain significance (-)
X-137030533-C-T		not specified	Uncertain significance (Dec 22, 2023)
X-137030534-G-A		not specified	Uncertain significance (Mar 02, 2023)
X-137030539-C-G			Uncertain significance (Dec 01, 2023)
X-137030548-A-G			Benign (Jan 31, 2024)
X-137030572-T-A		not specified	Uncertain significance (Jan 22, 2024)
X-137030573-C-T		not specified	Conflicting classifications of pathogenicity (Jun 30, 2023)
X-137030574-G-A			Likely benign (Oct 13, 2022)
X-137030577-G-T		Pituitary adenoma, growth hormone-secreting, 2	Pathogenic (Mar 26, 2015)
X-137030712-C-A		not specified	Uncertain significance (Jun 07, 2023)
X-137030748-G-T			Uncertain significance (Nov 02, 2022)
X-137030751-C-G		Pituitary adenoma, growth hormone-secreting, 2 • GPR101-related disorder	Conflicting classifications of pathogenicity (Dec 22, 2023)
X-137030751-C-T			Benign/Likely benign (Jan 13, 2024)
X-137030760-C-G		not specified	Uncertain significance (Jan 31, 2024)
X-137030783-C-T		GPR101-related disorder • not specified	Conflicting classifications of pathogenicity (Nov 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR101	protein_coding	protein_coding	ENST00000298110	1	1527

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.704	0.293	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.635	181	207	0.876	0.0000154	3372
Missense in Polyphen		63	74.963	0.84041		1261
Synonymous	0.985	75	86.7	0.865	0.00000680	1001
Loss of Function	2.35	1	8.30	0.120	5.65e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.
• Disease: DISEASE: Pituitary adenoma 2, growth hormone-secreting (PITA2) [MIM:300943]: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA2 is a growth hormone-secreting benign neoplasm, also known as somatotropinoma. It clinically results in acromegaly, a condition characterized by coarse facial features, protruding jaw, and enlarged extremities. Excessive production of growth hormone in children or adolescents before the closure of epiphyses causes gigantism, a condition characterized by abnormally tall stature. {ECO:0000269|PubMed:25470569}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Recessive Scores

• pRec: 0.0993

Intolerance Scores

• loftool: 0.117
• rvis_EVS: 0.66
• rvis_percentile_EVS: 84.55

Haploinsufficiency Scores

• pHI: 0.274
• hipred: N
• hipred_score: 0.373

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.207

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gpr101
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-activating adrenergic receptor signaling pathway
• Cellular component: integral component of plasma membrane;receptor complex
• Molecular function: adrenergic receptor activity