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.

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 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
Displaying Records 1 To 4 Of 4 Records
Contact Us
*
*
*
*
How did you hear about us: