Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 786 | 128 | 645 |
| Samples | 254 | 48 | 201 |
| Peptides | 223 | 36 | 190 |
Function
GH2 · Growth hormone 2
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
5 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000423893 | P01242 | 176 | 107 |
| ENST00000332800 | P01242-2 | 170 | 122 |
| ENST00000456543 | P01242-4 | 162 | 111 |
| ENST00000449787 | P01242-3 | 150 | 96 |
| ENST00000622506 | A0A087WXJ5* | 128 | 82 |
Gene Properties
Recurrent Mutations
All 107 amino-acid changes on canonical ENST00000423893 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in GH2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GH2 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Melanoma | 4/210 2% | 36/1899 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 7/612 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 10/810 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 9/752 1% |
| Other Solid Cancers | 2/94 2% | 17/1515 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 15/1390 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Colorectal Carcinoma | 10/143 7% | 27/3239 1% |
| Gastric Carcinoma | 1/74 1% | 17/1809 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Head and Neck Carcinoma | 1/85 1% | 10/1574 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroblastoma | 4/87 5% | 0/1331 0% |
| Breast Carcinoma | 2/144 1% | 7/3264 0% |
| Pancreatic Carcinoma | 0/89 0% | 4/1611 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 6/2550 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| Prostate Carcinoma | 2/13 15% | 2/2105 0% |
Mutation Distribution
Where GH2 is mutated · all tissues, split by cell line vs tissue
How many mutations in GH2 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 2 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 786 mutations in GH2
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|