SAPCD2 (Suppressor APC Domain Containing 2)

Gene encoding a protein involved in cell cycle regulation and tumor suppression

Gene Information Card

Symbol SAPCD2
Full Name Suppressor APC Domain Containing 2
Gene Type Protein coding
Chromosomal Location 9q34.3
NCBI Gene ID 89958 ncbi.nlm.nih.gov/gene/89958
Ensembl ID ENSG00000136826
UniProt ID Q86Y38
OMIM ID 611177
HGNC ID HGNC:28700
Aliases FLJ11273, MGC13170, SAPCD2

Description

SAPCD2 (Suppressor APC Domain Containing 2) is a protein-coding gene located on chromosome 9q34.3. The encoded protein contains an APC (adenomatous polyposis coli) domain and is implicated in cell cycle regulation, particularly in mitotic spindle checkpoint control. It is considered a putative tumor suppressor, with reduced expression observed in several cancer types.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer Loss of SAPCD2 expression may contribute to chromosomal instability and tumor progression PMID: 19029980
Hepatocellular carcinoma Downregulation associated with poor prognosis and increased proliferation PMID: 23593055
Gastric cancer Reduced expression linked to tumor aggressiveness PMID: 24316979

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.3 Medium
Brain 5.1 Low
Liver 3.8 Low
Colon 2.9 Low
Breast 1.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
HeLa 8.2 Cervical cancer cell line
HepG2 6.7 Hepatocellular carcinoma cell line
MCF7 2.1 Breast cancer cell line
A549 1.8 Lung cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense 0.01% p.Met1Val; potential loss of start codon
c.235C>T Nonsense 0.005% p.Arg79*; premature truncation
c.487_488del Frameshift 0.002% p.Leu163fs; loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay

Gain of Function (GOF)

No evidence of gain-of-function mutations reported

Dominant Negative (DN)

Not described

Pathways

Cell cycle - mitotic spindle checkpoint
APC/C-mediated degradation

Protein Summary

The SAPCD2 protein (UniProt Q86Y38) is 364 amino acids long and contains an APC domain. It localizes to the cytoplasm and spindle apparatus, playing a role in mitotic spindle checkpoint function. Loss of SAPCD2 expression is associated with chromosomal instability and tumorigenesis.

Related Products

Product name Cat.No. Species Gene ID
SAPCD2 Knockout HEK293 Cell Line EDJ-KQ10548 Human 89958 Details Get a Quote
SAPCD2 Knockout A-549 Cell Line EDJ-KQ37992 Human 89958 Details Get a Quote
SAPCD2 Knockout HCT 116 Cell Line EDJ-KQ37993 Human 89958 Details Get a Quote
SAPCD2 Knockout HeLa Cell Line EDJ-KQ37994 Human 89958 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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