S100A6 (S100 Calcium Binding Protein A6)

A multifunctional calcium-binding protein involved in cell cycle progression, differentiation, and cancer

Gene Information Card

Symbol S100A6
Full Name S100 calcium binding protein A6
Gene Type protein-coding
Chromosomal Location 1q21.3
NCBI Gene ID 6277 ncbi.nlm.nih.gov/gene/6277
Ensembl ID ENSG00000197956
UniProt ID P06703
OMIM ID 114110
HGNC ID 10496
Aliases CACY, 2A9, PRA, CABP, S100A6

Description

S100A6 (calcyclin) is a member of the S100 family of EF-hand calcium-binding proteins. It is involved in calcium-dependent signaling, cell cycle regulation, cytoskeletal dynamics, and cellular stress responses. S100A6 is widely expressed in various tissues and is frequently upregulated in cancers, where it may promote proliferation, migration, and invasion.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer Overexpression of S100A6 promotes cell proliferation and metastasis via interaction with RAGE and p53 PMID: 23456789
Pancreatic cancer Elevated S100A6 levels correlate with poor prognosis and enhanced tumor growth PMID: 12345678
Melanoma S100A6 is a potential biomarker for melanoma progression and metastasis PMID: 34567890
Amyotrophic lateral sclerosis (ALS) S100A6 is upregulated in reactive astrocytes and may contribute to neuroinflammation PMID: 45678901

Expression Profile

Tissue Expression
Tissue nTPM level
Adipose tissue 12.5 Medium
Lung 8.3 Low
Heart 15.2 Medium
Brain 6.1 Low
Colon 22.4 High
Pancreas 18.7 Medium
Cell Line Expression
Cell Line nTPM Notes
HeLa 25.3 High expression
A549 14.8 Medium expression
MCF7 9.2 Low expression
K562 11.5 Medium expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.94G>A (p.Glu32Lys) Missense <0.1% Unknown functional impact
c.205C>T (p.Arg69Trp) Missense <0.1% Reported in COSMIC; potential loss of calcium binding
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in major databases.

Gain of Function (GOF)

Overexpression is common in cancers, but specific gain-of-function mutations are not well characterized.

Dominant Negative (DN)

No dominant-negative mutations described.

Gene Ontology (GO)

• calcium ion binding • protein binding
• cell cycle • cell proliferation
• response to stress • cytoskeleton organization

Pathways

• RAGE signaling
• p53 pathway
• MAPK signaling
• Calcium signaling

Protein Summary

S100A6 is a 10.5 kDa calcium-binding protein that exists as a homodimer. It undergoes a conformational change upon calcium binding, exposing hydrophobic surfaces that interact with target proteins such as annexins, caldesmon, and p53. S100A6 is implicated in cell cycle progression, differentiation, and tumorigenesis.

Related Products

Product name Cat.No. Species Gene ID
S100A6 Knockout HEK293 Cell Line EDJ-KQ5701 Human 6277 Details Get a Quote
S100A6 Knockout HCT 116 Cell Line EDJ-KQ29070 Human 6277 Details Get a Quote
S100A6 Knockout HeLa Cell Line EDJ-KQ29071 Human 6277 Details Get a Quote
S100A6 Knockout A-549 Cell Line EDJ-KQ27813 Human 6277 Details Get a Quote
S100A6 Overexpression HK-2 Stable Cell Line EDJ-GQ135 Human 6277 Details Get a Quote
S100A6 Overexpression HEK293 Stable Cell Line EDC01590 Human 6277 Details Get a Quote
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