GIPC2: PDZ Domain-Containing Protein Involved in Receptor Trafficking and Cancer
Comprehensive genomic and functional overview of GIPC2 (GIPC PDZ Domain Containing Family Member 2)
Gene Information Card
| Symbol | GIPC2 |
|---|---|
| Full Name | GIPC PDZ Domain Containing Family Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 54810 ncbi.nlm.nih.gov/gene/54810 |
| Ensembl ID | ENSG00000116918 |
| UniProt ID | Q8TF65 |
| OMIM ID | 611919 |
| HGNC ID | 18181 |
| Aliases | SEMCAP-2, MGC14836, FLJ20254 |
Description
GIPC2 (GIPC PDZ Domain Containing Family Member 2) is a protein-coding gene located on chromosome 1p31.1. It encodes a member of the GIPC family of PDZ domain-containing proteins, which are involved in trafficking and signaling of G protein-coupled receptors (GPCRs) and other transmembrane proteins. GIPC2 interacts with the C-terminal tail of various receptors, including the insulin-like growth factor 1 receptor (IGF1R) and the dopamine D2 receptor, modulating their internalization and downstream signaling. The gene is expressed in multiple tissues and has been implicated in cancer, particularly through altered expression in breast, lung, and colorectal tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered GIPC2 expression may affect IGF1R trafficking and signaling, promoting tumor growth | NCBI Gene, COSMIC |
| Lung cancer | GIPC2 overexpression observed in non-small cell lung cancer; potential role in cell proliferation | COSMIC, PubMed |
| Colorectal cancer | GIPC2 downregulation associated with poor prognosis; possible tumor suppressor function | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Kidney | 6.1 | Medium |
| Liver | 2.4 | Low |
| Lung | 4.5 | Low |
| Mammary gland | 7.3 | Medium |
| Ovary | 5.9 | Medium |
| Testis | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 6.5 | Moderate expression |
| A549 (lung cancer) | 7.2 | Moderate expression |
| HCT116 (colorectal cancer) | 4.8 | Low expression |
| HEK293 (embryonic kidney) | 5.0 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; likely benign |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown; predicted tolerated |
| c.412_413insA (p.Thr138Asnfs*2) | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.412_413insA) lead to premature truncation and loss of PDZ domain, impairing receptor binding.
Gain of Function (GOF)
No gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
| • protein binding (GO:0005515) | • PDZ domain binding (GO:0030165) |
| • plasma membrane (GO:0005886) | • endocytosis (GO:0006897) |
| • signal transduction (GO:0007165) | • membrane (GO:0016020) |
Pathways
• GPCR signaling (via PDZ domain interactions)
• IGF1R signaling and internalization
• Dopamine D2 receptor trafficking
Protein Summary
GIPC2 is a 333-amino acid protein containing a central PDZ domain that mediates interactions with the C-terminal tails of various transmembrane receptors, including GPCRs and receptor tyrosine kinases. It localizes to the plasma membrane and endocytic vesicles, facilitating receptor internalization and recycling. The protein also contains an N-terminal GIPC homology domain and a C-terminal region involved in dimerization. GIPC2 is structurally similar to GIPC1 and GIPC3, but with distinct tissue expression patterns and binding partners.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GIPC2 Knockout HEK293 Cell Line | EDJ-KQ13597 | Human | 54810 | Details Get a Quote |
| GIPC2 Knockout HeLa Cell Line | EDJ-KQ56477 | Human | 54810 | Details Get a Quote |
| GIPC2 Knockout A-549 Cell Line | EDJ-KQ64969 | Human | 54810 | Details Get a Quote |
| GIPC2 Knockout HCT 116 Cell Line | EDJ-KQ73415 | Human | 54810 | Details Get a Quote |
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