ANXA7: Annexin A7 Gene
A calcium-dependent phospholipid-binding protein involved in membrane fusion, exocytosis, and tumor suppression.
Gene Information Card
| Symbol | ANXA7 |
|---|---|
| Full Name | Annexin A7 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 310 ncbi.nlm.nih.gov/gene/310 |
| Ensembl ID | ENSG00000138279 |
| UniProt ID | P20073 |
| OMIM ID | 186690 |
| HGNC ID | 545 |
| Aliases | SYNEXIN, ANX7, SNX |
Description
ANXA7 (Annexin A7) encodes a member of the annexin family of calcium-dependent phospholipid-binding proteins. The protein, also known as synexin, plays a role in membrane fusion, exocytosis, and calcium signaling. It functions as a tumor suppressor in several cancers and is implicated in neurodevelopmental and neurodegenerative disorders. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of ANXA7 expression correlates with tumor progression and metastasis; acts as a tumor suppressor via regulation of calcium signaling and apoptosis. | ClinVar, COSMIC, NCBI PubMed |
| Prostate cancer | ANXA7 mutations and reduced expression are associated with aggressive disease and poor prognosis; involved in androgen receptor signaling. | COSMIC, ClinVar, NCBI PubMed |
| Glioblastoma | ANXA7 downregulation promotes glioma cell proliferation and invasion; potential biomarker for malignancy. | NCBI PubMed, COSMIC |
| Neurodevelopmental disorder with hypotonia and brain anomalies | Homozygous loss-of-function mutations in ANXA7 cause a syndromic disorder characterized by intellectual disability, hypotonia, and structural brain abnormalities. | OMIM #186690, ClinVar |
| Alzheimer disease | ANXA7 polymorphisms have been associated with increased risk; protein involved in amyloid-beta metabolism and synaptic function. | NCBI PubMed, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Heart | 22.1 | High |
| Lung | 15.3 | Medium |
| Liver | 10.2 | Medium |
| Kidney | 18.7 | High |
| Testis | 12.4 | Medium |
| Pancreas | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.1 | High expression; commonly used for functional studies |
| HeLa | 25.6 | High expression; cervical cancer cell line |
| MCF7 | 18.4 | Medium expression; breast cancer cell line |
| SH-SY5Y | 22.3 | High expression; neuroblastoma cell line |
| HepG2 | 14.7 | Medium expression; hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166Gln) | Missense | Rare | Reduced calcium binding and membrane fusion activity; associated with neurodevelopmental disorder |
| c.1120C>T (p.Arg374Ter) | Nonsense | Rare | Loss of function; truncation leads to protein instability; linked to neurodevelopmental disorder |
| c.1045_1046del (p.Leu349ValfsTer12) | Frameshift | Rare | Loss of function; premature stop codon; reported in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of translation initiation; likely loss of function |
| c.130G>A (p.Glu44Lys) | Missense | Rare | Unknown significance; reported in COSMIC in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations (e.g., p.Arg374Ter, p.Leu349ValfsTer12, p.Met1Val) lead to truncated or absent protein, impairing calcium-dependent membrane fusion and tumor suppression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ANXA7.
Dominant Negative (DN)
Missense mutations such as p.Arg166Gln may exert dominant-negative effects by disrupting calcium binding and interfering with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Phospholipid binding and membrane fusion (Reactome: R-HSA-1483249)
• Apoptosis (Reactome: R-HSA-109581)
Protein Summary
Annexin A7 (synexin) is a 51 kDa calcium-dependent phospholipid-binding protein encoded by the ANXA7 gene. It contains four annexin repeats and a unique N-terminal domain. The protein mediates membrane aggregation and fusion, particularly in exocytosis and secretory processes. It also regulates calcium homeostasis and apoptosis. Loss of ANXA7 function is associated with tumor progression and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANXA7 Knockout HEK293 Cell Line | EDJ-KQ4057 | Human | 310 | Details Get a Quote |
| ANXA7 Knockout A-549 Cell Line | EDJ-KQ26418 | Human | 310 | Details Get a Quote |
| ANXA7 Knockout HCT 116 Cell Line | EDJ-KQ26419 | Human | 310 | Details Get a Quote |
| ANXA7 Knockout HeLa Cell Line | EDJ-KQ26420 | Human | 310 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
