GIT2

GIT ArfGAP 2 Q14161 GIT2_HUMAN
Protein Coding Chr 12 12q24.11 Swiss-Prot reviewed Entrez 9815
Mutations
1,817
CL 257 · Tissue 1,543
Samples
326
CL 65 · Tissue 256
Peptides
321
unique mutant peptides
Transcripts
7
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
Mutations1,8172571,543
Samples32665256
Peptides32157258

Function

GIT2 · GIT ArfGAP 2

This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008].

Isoforms & Proteins

7 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
ENST00000355312 Q14161 364 274
ENST00000551209 F8VXI9* 295 234
ENST00000361006 Q14161-5 292 234
ENST00000457474 Q14161-10 273 221
ENST00000553118 Q14161-11 244 197
ENST00000547815 Q14161-2 183 149
ENST00000320063 F8W822* 166 137

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q24.11
Entrez ID
Aliases
CAT-2CAT2PKL

Recurrent Mutations

All 274 amino-acid changes on canonical ENST00000355312 · 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 GIT2 · 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 GIT2 – 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
4/40 10%
0/0 0%
Endometrial Carcinoma
5/42 12%
14/612 2%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Glioblastoma
2/98 2%
0/0 0%
Melanoma
6/210 3%
36/1899 2%
Colorectal Carcinoma
10/143 7%
48/3239 1%
Bladder Carcinoma
1/58 2%
15/956 2%
Cervical Carcinoma
2/35 6%
4/422 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
23/2550 1%
Non-Small Cell Lung Carcinoma
9/304 3%
8/1390 1%
Burkitts Lymphoma
1/32 3%
1/196 1%
Other Solid Cancers
0/94 0%
12/1515 1%
Gastric Carcinoma
2/74 3%
11/1809 1%
Hepatocellular Carcinoma
2/46 4%
13/2210 1%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Glioma
0/52 0%
12/2127 1%
Neuroendocrine Tumour
2/154 1%
2/577 0%
Small Cell Lung Carcinoma
2/9 22%
2/752 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Kidney Carcinoma
2/85 2%
7/1862 0%
Non-Cancerous
0/104 0%
4/830 0%
Head and Neck Carcinoma
0/85 0%
7/1574 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Ovarian Carcinoma
3/109 3%
1/998 0%
Pancreatic Carcinoma
3/89 3%
3/1611 0%
Prostate Carcinoma
0/13 0%
7/2105 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Other Sarcomas
1/69 1%
1/699 0%

Mutation Distribution

Where GIT2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in GIT2 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 1,817 mutations in GIT2

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