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 | 534 | 121 | 410 |
| Samples | 482 | 104 | 375 |
| Peptides | 386 | 72 | 329 |
Function
ABCD2 · ATP binding cassette subfamily D member 2
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000308666 | Q9UBJ2 | 534 | 386 |
Gene Properties
Recurrent Mutations
All 386 amino-acid changes on canonical ENST00000308666 · 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 ABCD2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABCD2 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 22/612 4% |
| Melanoma | 9/210 4% | 68/1899 4% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 25/810 3% |
| Non-Small Cell Lung Carcinoma | 16/304 5% | 30/1390 2% |
| Other Solid Cancers | 0/94 0% | 32/1515 2% |
| Colorectal Carcinoma | 17/143 12% | 46/3239 1% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Bladder Carcinoma | 2/58 3% | 11/956 1% |
| Neuroendocrine Tumour | 4/154 3% | 5/577 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 9/752 1% |
| Gastric Carcinoma | 4/74 5% | 17/1809 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Ovarian Carcinoma | 1/109 1% | 8/998 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Other Sarcomas | 3/69 4% | 2/699 0% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Head and Neck Carcinoma | 2/85 2% | 8/1574 1% |
| Biliary Tract Carcinoma | 4/54 7% | 2/950 0% |
| Glioma | 0/52 0% | 12/2127 1% |
| Breast Carcinoma | 4/144 3% | 13/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Prostate Carcinoma | 4/13 31% | 6/2105 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 9/2550 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 4/1592 0% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
Mutation Distribution
Where ABCD2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ABCD2 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 54 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 534 mutations in ABCD2
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 |
|---|