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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SALL2
spalt like transcription factor 2
Chromosome 14 · 14q11.2
NCBI Gene: 6297Ensembl: ENSG00000165821.12HGNC: HGNC:10526UniProt: B4DK65
65PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingpositive regulation of transcription by RNA polymerase IIDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingcolobomacoloboma of choroid and retinacoloboma of eye lensColoboma of optic papilla
✦AI Summary

SALL2 is a zinc finger transcription factor with critical roles in development and cancer suppression. During normal development, SALL2 is essential for eye and neural differentiation, with dominant expression in the developing nervous system 1. SALL2 regulates neural differentiation through transcriptional activation of Tuba1a 1 and controls expression of brain-specific transcription factors including SALL3, POU3F2, and NPAS3 2. The gene produces two major protein isoforms (E1 and E1A) with distinct functional roles, with E1A being predominantly expressed across cell types 2. In cancer, SALL2 demonstrates context-dependent functions. It acts as a tumor suppressor in ovarian and colorectal cancers, where SALL2 downregulation promotes cell proliferation, migration, and invasion 34. SALL2 induces p21-mediated cell cycle arrest and activates pro-apoptotic pathways 5. In colorectal cancer, SALL2 negatively regulates Wnt/β-catenin signaling by transcriptionally activating AXIN2 4. Conversely, in glioblastoma, SALL2 is required to reprogram differentiated cells into tumor-propagating stem-like cells 65. SALL2 protein stability is regulated by casein kinase 2-mediated phosphorylation and proteasomal degradation 7. Loss of SALL2 expression is associated with poor survival in multiple cancer types, supporting its potential as a prognostic biomarker 4.

Sources cited
1
SALL2 shows dominant expression in developing nervous system and is essential for neural differentiation through Tuba1a regulation
PMID: 39349437
2
SALL2 produces E1 and E1A isoforms with E1A being predominant; regulates brain-specific transcription factor networks
PMID: 33692826
3
SALL2 knockdown promotes ovarian cancer cell proliferation, migration, and invasion while decreasing p21 expression
PMID: 29228922
4
SALL2 is downregulated in colorectal cancer and negatively regulates Wnt/β-catenin signaling via AXIN2 activation
PMID: 40869218
5
SALL2 shares tumor suppressor functions with p53 through p21 and BAX induction; tissue-dependent functional roles
PMID: 27957650
6
SALL2 is a core neurodevelopmental transcription factor essential for glioblastoma tumor-propagating cell generation
PMID: 24726434
7
Casein kinase 2 phosphorylates SALL2 at specific residues and promotes proteasomal degradation in cancer cells
PMID: 38493149
Disease Associationsⓘ21
colobomaOpen Targets
0.50Moderate
coloboma of choroid and retinaOpen Targets
0.37Weak
coloboma of eye lensOpen Targets
0.37Weak
coloboma of eyelidOpen Targets
0.37Weak
coloboma of irisOpen Targets
0.37Weak
coloboma of maculaOpen Targets
0.37Weak
coloboma of optic nerveOpen Targets
0.37Weak
Coloboma of optic papillaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
breast cancerOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Isolated anencephaly/exencephalyOpen Targets
0.06Suggestive
anencephaly 1Open Targets
0.06Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.06Suggestive
Spina bifida - hypospadiasOpen Targets
0.06Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
tropical spastic paraparesisOpen Targets
0.03Suggestive
craniorachischisisOpen Targets
0.03Suggestive
Coloboma, ocular, autosomal recessiveUniProt
Pathogenic Variants1
NM_001364564.1(SALL2):c.79G>T (p.Glu27Ter)Pathogenic
Coloboma, ocular, autosomal recessive
☆☆☆☆2014→ Residue 27
View on ClinVar ↗
Related Genes
POU3F2Protein interaction81%DPPA2Shared pathway50%DPPA4Shared pathway50%CPAMD8Shared pathway50%KIF26BShared pathway33%MAB21L2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Ovary
41%
Heart
17%
Lung
7%
Bone Marrow
5%
Liver
2%
Gene Interaction Network
Click a node to explore
SALL2POU3F2DPPA2DPPA4CPAMD8KIF26BMAB21L2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y467
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.41–0.72]
RankingsWhere SALL2 stands among ~20K protein-coding genes
  • #7,205of 20,598
    Most Researched65
  • #5,022of 5,498
    Most Pathogenic Variants1
  • #5,591of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedSALL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Reconstructing and reprogramming the tumor-propagating potential of glioblastoma stem-like cells.
PMID: 24726434
Cell · 2014
1.00
2
Characterization of
PMID: 33692826
Front Genet · 2021
0.90
3
Glucocorticoids, genes and brain function.
PMID: 29180230
Prog Neuropsychopharmacol Biol Psychiatry · 2018
0.80
4
Roles of SALL2 in tumorigenesis.
PMID: 27957650
Arch Pharm Res · 2017
0.70
5
Casein kinase 2 phosphorylates and induces the SALL2 tumor suppressor degradation in colon cancer cells.
PMID: 38493149
Cell Death Dis · 2024
0.60