HYAL2

Hyaluronidase 2 Q12891 HYAL2_HUMAN
Protein Coding Chr 3 3p21.31 Swiss-Prot reviewed Entrez 8692
Mutations
811
CL 108 · Tissue 656
Samples
205
CL 47 · Tissue 154
Peptides
153
unique mutant peptides
Transcripts
4
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
Mutations811108656
Samples20547154
Peptides15329118

Function

HYAL2 · Hyaluronidase 2

This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010].

Isoforms & Proteins

4 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
ENST00000357750 Q12891 228 152
ENST00000447092 Q12891 195 139
ENST00000395139 Q12891 194 138
ENST00000442581 Q12891 194 138

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p21.31
Entrez ID
Aliases
LUCA2MCCS

Recurrent Mutations

All 152 amino-acid changes on canonical ENST00000357750 · 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 HYAL2 · 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 HYAL2 – 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
5/40 12%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Endometrial Carcinoma
7/42 17%
12/612 2%
Bladder Carcinoma
2/58 3%
10/956 1%
Gastric Carcinoma
1/74 1%
17/1809 1%
Colorectal Carcinoma
3/143 2%
29/3239 1%
Osteosarcoma
2/45 4%
0/166 0%
Mesothelioma
2/62 3%
0/165 0%
Melanoma
2/210 1%
13/1899 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Non-Small Cell Lung Carcinoma
8/304 3%
2/1390 0%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Ovarian Carcinoma
0/109 0%
6/998 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Other Solid Cancers
1/94 1%
7/1515 0%
Hepatocellular Carcinoma
0/46 0%
11/2210 0%
Non-Cancerous
2/104 2%
2/830 0%
Other Sarcomas
0/69 0%
3/699 0%
Squamous Cell Lung Carcinoma
1/57 2%
2/810 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Pancreatic Carcinoma
1/89 1%
3/1611 0%
Glioma
2/52 4%
3/2127 0%
Medulloblastoma
0/0 0%
1/450 0%
Kidney Carcinoma
0/85 0%
4/1862 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
3/2534 0%
Head and Neck Carcinoma
1/85 1%
2/1574 0%
Breast Carcinoma
0/144 0%
6/3264 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%

Mutation Distribution

Where HYAL2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in HYAL2 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 811 mutations in HYAL2

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