JOSD2

Josephin domain containing 2 Q8TAC2 JOS2_HUMAN
Protein Coding Chr 19 19q13.33 Swiss-Prot reviewed Entrez 126119
Mutations
187
CL 34 · Tissue 149
Samples
76
CL 20 · Tissue 54
Peptides
71
unique mutant peptides
Transcripts
3
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations18734149
Samples762054
Peptides711556

Function

JOSD2 · Josephin domain containing 2

This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012].

Isoforms & Proteins

3 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000598418 Q8TAC2 77 65
ENST00000601423 Q8TAC2 65 58
ENST00000595669 Q8TAC2-2 45 42

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19q13.33
Entrez ID
Aliases
SBBI54

Recurrent Mutations

All 65 amino-acid changes on canonical ENST00000598418 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 JOSD2 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in JOSD2 – 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 typeCell linesTissue samples
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Endometrial Carcinoma
2/42 5%
8/612 1%
Glioblastoma
1/98 1%
0/0 0%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Colorectal Carcinoma
6/143 4%
7/3239 0%
Squamous Cell Lung Carcinoma
2/57 4%
1/810 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Gastric Carcinoma
0/74 0%
4/1809 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Other Solid Cancers
0/94 0%
3/1515 0%
Melanoma
0/210 0%
4/1899 0%
Ovarian Carcinoma
1/109 1%
1/998 0%
B-Lymphoblastic Leukemia
1/55 2%
3/2640 0%
Glioma
0/52 0%
3/2127 0%
Neuroblastoma
1/87 1%
1/1331 0%
Hepatocellular Carcinoma
0/46 0%
3/2210 0%
Non-Small Cell Lung Carcinoma
1/304 0%
1/1390 0%
Head and Neck Carcinoma
0/85 0%
2/1574 0%
Non-Cancerous
0/104 0%
1/830 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Prostate Carcinoma
1/13 8%
1/2105 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
1/2550 0%
Thyroid Gland Carcinoma
0/45 0%
1/1592 0%
Other Blood Cancers
0/61 0%
1/2725 0%
Breast Carcinoma
1/144 1%
0/3264 0%

Mutation Distribution

Where JOSD2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in JOSD2 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

GTEx Portal ↗
About the expression data
GTEx Expression

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 187 mutations in JOSD2

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide