Pituitary adenoma, growth hormone-secreting, 2
diseaseOn this page
Also known as GPR101 pituitary gland adenomaPAGH2PITA2pituitary adenoma 2, GH-secretingpituitary adenoma, Growth hormone-secreting, type 2pituitary gland adenoma caused by mutation in GPR101
Summary
Pituitary adenoma, growth hormone-secreting, 2 (MONDO:0010492) is a cancer caused by GPR101 (GenCC Strong), with 1 cohort gene.
At a glance
- Classification: Cancer
- Causal gene: GPR101 (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 4
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pituitary adenoma, growth hormone-secreting, 2 |
| Mondo ID | MONDO:0010492 |
| OMIM | 300943 |
| DOID | DOID:0112007 |
| UMLS | C4012409 |
| MedGen | 860846 |
| GARD | 0015274 |
| Is cancer (heuristic) | yes |
Also known as: GPR101 pituitary gland adenoma · PAGH2 · PITA2 · pituitary adenoma 2, GH-secreting · pituitary adenoma, growth hormone-secreting, 2 · pituitary adenoma, Growth hormone-secreting, type 2 · pituitary gland adenoma caused by mutation in GPR101
Data availability: 4 ClinVar variants · 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › epithelial neoplasm › adenoma › pituitary gland adenoma › familial isolated pituitary adenoma › pituitary adenoma, growth hormone-secreting, 2
Related subtypes (5): growth hormone secreting pituitary adenoma 1, Cushing disease due to pituitary adenoma, prolactin-producing pituitary gland adenoma, pituitary adenoma 5, multiple types, pituitary adenoma 3, multiple types
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
4 retrieved; paginated sample, class counts are floors:
2 uncertain significance, 1 conflicting classifications of pathogenicity, 1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 192259 | NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) | GPR101 | Pathogenic | no assertion criteria provided |
| 167871 | NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) | GPR101 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2252347 | NM_054021.2(GPR101):c.1493T>C (p.Ile498Thr) | GPR101 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3893147 | NM_054021.2(GPR101):c.677T>C (p.Leu226Pro) | GPR101 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 2 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| GPR101 | Strong | X-linked | pituitary adenoma, growth hormone-secreting, 2 | 2 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| GPR101 | Orphanet:963 | Acromegaly |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| GPR101 | HGNC:14963 | ENSG00000165370 | Q96P66 | Probable G-protein coupled receptor 101 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| GPR101 | Probable G-protein coupled receptor 101 | Orphan receptor. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| GPCR | 1 | 23.9× | 0.042 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| GPR101 | GPCR | yes | GPCR_Rhodpsn, GPCR_Rhodpsn_7TM |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| caudate nucleus | 1 |
| hypothalamus | 1 |
| nucleus accumbens | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| GPR101 | 23 | tissue_specific | marker | nucleus accumbens, caudate nucleus, hypothalamus |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| GPR101 | 837 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| GPR101 | Q96P66 | 3 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| adenylate cyclase-activating adrenergic receptor signaling pathway | 1 | 1203.7× | 0.002 | GPR101 |
| positive regulation of MAPK cascade | 1 | 80.6× | 0.012 | GPR101 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| GPR101 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| GPR101 | 2 | Binding:2 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
0 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | GPR101 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| GPR101 | 2 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: GPR101