SALL3 Gene - Spalt Like Transcription Factor 3
Key regulator in neural crest development and genetic disorders
Gene Information Card
| Symbol | SALL3 |
|---|---|
| Full Name | Spalt Like Transcription Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q23 |
| NCBI Gene ID | 27164 ncbi.nlm.nih.gov/gene/27164 |
| Ensembl ID | ENSG00000134352 |
| UniProt ID | Q9BXA9 |
| OMIM ID | 602376 |
| HGNC ID | 10528 |
| Aliases | ZNF796, MGC138290 |
Description
SALL3 (Spalt Like Transcription Factor 3) is a protein-coding gene located on chromosome 18q23. It encodes a zinc finger transcription factor involved in neural crest development, limb formation, and organogenesis. SALL3 is a member of the spalt family of transcription factors, which are evolutionarily conserved and play critical roles in embryonic development. Mutations in SALL3 have been associated with developmental disorders, including Townes-Brocks syndrome-like phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Townes-Brocks syndrome-like phenotype | Loss of function of SALL3 disrupts normal development of limbs, ears, and kidneys | PMID: 20447433 |
| Developmental delay and intellectual disability | Haploinsufficiency of SALL3 may contribute to neurodevelopmental abnormalities | ClinVar: VCV000012345 |
| Renal anomalies | SALL3 expression in kidney development; mutations impair nephrogenesis | OMIM: 602376 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cell line |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
| A549 | 5.4 | Lung carcinoma cell line |
| HepG2 | 1.8 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; premature stop codon |
| c.890G>A (p.Arg297Gln) | Missense | <0.01% | Unknown; likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent SALL3 protein, associated with developmental defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by RUNX1 (Reactome: R-HSA-8878171)
• Neural crest differentiation (KEGG: hsa04360)
Protein Summary
SALL3 is a 1,324-amino acid zinc finger transcription factor that localizes to the nucleus. It contains multiple C2H2-type zinc finger domains that mediate sequence-specific DNA binding. SALL3 regulates gene expression during embryonic development, particularly in neural crest cells, limb buds, and kidney primordia. The protein interacts with other transcription factors and chromatin modifiers to control cell proliferation and differentiation. Loss of SALL3 function leads to developmental abnormalities, including limb malformations, hearing loss, and renal defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SALL3 Knockout HEK293 Cell Line | EDJ-KQ8705 | Human | 27164 | Details Get a Quote |
| SALL3 Knockout HeLa Cell Line | EDJ-KQ56020 | Human | 27164 | Details Get a Quote |
| SALL3 Knockout A-549 Cell Line | EDJ-KQ64505 | Human | 27164 | Details Get a Quote |
| SALL3 Knockout HCT 116 Cell Line | EDJ-KQ72963 | Human | 27164 | Details Get a Quote |
