BAALC Gene (Brain and Acute Leukemia, Cytoplasmic)
A comprehensive resource on BAALC gene function, expression, mutations, and clinical significance in acute myeloid leukemia and other cancers.
Gene Information Card
| Symbol | BAALC |
|---|---|
| Full Name | Brain and Acute Leukemia, Cytoplasmic |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 79870 ncbi.nlm.nih.gov/gene/79870 |
| Ensembl ID | ENSG00000164929 |
| UniProt ID | Q8N7M0 |
| OMIM ID | 606604 |
| HGNC ID | 14333 |
| Aliases | FLJ20457, MGC131831, MGC138290 |
Description
BAALC (Brain and Acute Leukemia, Cytoplasmic) is a protein-coding gene located on chromosome 8q22.3. It encodes a cytoplasmic protein of unknown function, but its expression is associated with neural development and is aberrantly expressed in acute myeloid leukemia (AML) and other malignancies. High BAALC expression is a poor prognostic marker in AML with normal karyotype.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | Overexpression of BAALC is associated with chemoresistance and poor prognosis, possibly through modulation of cell survival pathways. | PMID: 14670924, PMID: 16990592 |
| Myelodysplastic Syndromes (MDS) | Elevated BAALC expression correlates with higher risk of transformation to AML. | PMID: 20008324 |
| Acute Lymphoblastic Leukemia (ALL) | BAALC expression is detected in a subset of ALL cases, but its role is less defined. | PMID: 17962512 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Bone Marrow | 8.2 | Low |
| Lung | 1.3 | Not detected |
| Liver | 0.5 | Not detected |
| Kidney | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (CML) | 15.3 | High expression |
| HL-60 (AML) | 22.7 | Very high expression |
| HEK293 | 0.8 | Low expression |
| HeLa | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; functional impact unknown |
| c.235C>T (p.Arg79Trp) | Missense | <0.1% | Rare variant; no known disease association |
| c.456_457insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, but no confirmed pathogenic loss-of-function variants have been reported.
Gain of Function (GOF)
No gain-of-function mutations have been described for BAALC.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • protein binding (GO:0005515) |
| • nervous system development (GO:0007399) |
Pathways
• Not assigned to any canonical pathway in KEGG or Reactome.
Protein Summary
The BAALC protein is a 180-amino-acid cytoplasmic protein with no known enzymatic domains. It is highly conserved in vertebrates and expressed predominantly in brain and hematopoietic tissues. Its function remains poorly understood, but it may play a role in neural development and leukemogenesis when aberrantly expressed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAALC Knockout HEK293 Cell Line | EDJ-KQ3341 | Human | 79870 | Details Get a Quote |
| BAALC Knockout HeLa Cell Line | EDJ-KQ57249 | Human | 79870 | Details Get a Quote |
| BAALC Knockout A-549 Cell Line | EDJ-KQ65760 | Human | 79870 | Details Get a Quote |
| BAALC Knockout HCT 116 Cell Line | EDJ-KQ74180 | Human | 79870 | Details Get a Quote |
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