Property Summary

NCBI Gene PubMed Count 102
PubMed Score 438.85
PubTator Score 166.91

Knowledge Summary


No data available


  Differential Expression (6)

Disease log2 FC p
osteosarcoma 2.138 1.1e-03
atypical teratoid / rhabdoid tumor 3.000 1.8e-06
breast carcinoma 1.300 1.3e-02
lung adenocarcinoma 2.000 6.3e-07
inflammatory breast cancer 1.300 2.8e-02
ovarian cancer 1.200 1.8e-06

Protein-protein Interaction (6)

Gene RIF (91)

26892498 review aims to summarize our current knowledge of SALL4, including a SALL4-based approach to classify and target cancers
26818834 SALL4 expression in squamous cell carcinoma of the esophagus may constitute a sign of dedifferentiation leading to poor patient prognosis
26791099 Study reports a novel heterozygous frameshift insertion in SALL4, c.410dupG (p.Gly138Argfs*43) segregating with Okihiro syndrome in a Brazilian pedigree with five affected individuals; the c.410dupG variant in SALL4 gene reported here is the cause of Okihiro syndrome without Duane anomaly, but with foot defect in one affected individual.
26779651 SALL4 and beta-catenin were positively correlated in colorectal cancer.
26750614 SALL4 was highly expressed and correlated with poor prognosis in SOC patients, promoting invasion and metastasis of OC cells.
26617716 By inhibition of SALL4 expression, the proliferation, invasiveness and drug resistance were dramatically reduced while apoptosis rate was up-regulated.
26407074 SALL4 could induce Epithelial-mesenchymal transition and resistance to antineoplastic drugs through the regulation of c-Myc. SALL4 and c-Myc may be novel therapeutic targets for endometrial cancer.
26317546 SALL4 has an oncogenic role in intrahepatic cholangiocarcinoma
26238082 The results show that miR-219-5p inhibited carcinogenesis of colon cancer by targeting oncogene Sall4
25919570 The mechanism through which miR-33b inhibits the stemness, migration and invasion of breast cancer cells is by targeting HMGA2, SALL4 and Twist1.
25823593 An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.
25737450 Aberrant SALL4 expression has been found in nearly all AML cases, whereas, in normal bone marrow and peripheral blood cells, its expression is only restricted to hematopoietic stem/progenitor cells.
25646965 Results indicate that SALL4 overexpression acts as a natural resistance factor and may be involved in the recurrence of lung cancer after adjuvant chemotherapy.
25479928 the evaluation of ERG and SALL4 immunoexpressions may be a useful diagnostic tool to distinguish epithelioid sarcoma, especially proximal type, from malignant rhabdoid tumor
25436325 Up-regulation of SALL4 in gastric cancers is a marker of poor prognosis.
25359397 Results indicated that the SALL4 may play an important role in progression, development and maintenance of glioma
25246269 SALL4 expression is variable in acute myeloid leukemia, ranging from no expression to levels comparable to embryonic stem cells.
25156818 High SALL4 expression is associated with colorectal cancers
24860834 Hepatocellular carcinoma patients showing high SALL4 serum levels had poor prognosis evidenced by both tumor recurrence and overall survival rate.
24827994 Despite moderate sensitivity, SALL4 expression may aid in distinguishing Malignant rhabdoid tumours from epithelioid sarcomas
24805857 Although SALL4 immunoreactivity in Western hepatocellular carcinoma is correlated with higher grade and poor prognosis, this is a rare event.
24659265 SALL4 and SOX2 are co-overexpressed in ESCC and have a significant correlation with invasion and metastasis of the disease
24626181 identifies the KRLR sequence as a bona fide nuclear localization signal for SALL4B.
24525512 Report SALL4 expression in germ/non-germ cell tumors.
24486774 Data suggest involvement of SALL4 (sal-like 4) and NFATC2(nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 ) genes disruption in cardiac and skeletal anomalies.
24463278 SALL4 plays a key role in B-ALL cell survival and could be a potential novel target in B-ALL treatment.
24336327 SALL4 has functional roles in metastasis and drug resistance in aggressive endometrial cancer
24283704 SALL4 is a potential molecular marker in predicting the prognosis of MDS.
24276240 our findings indicate that SALL4 has oncogenic roles in gastric cancer
24051379 SALL4 binds a specific region of the HOXA9 promoter in leukemic cells.
24012616 SALL4 expression status was associated with histone deacetylase activity in cell lines
23954296 SALL4 functions to suppress CDH1 expression and to maintain cell dispersion in basal-like breast cancer.
23822878 SALL4 is expressed in blastemal tumours, particularly in the embryonal subtype of hepatoblastoma. Seven of 12 hepatoblastomas showed nuclear staining only in the embryonal component. Fetal and mesenchymal components were negative.
23811124 Results demonstrate upregulation of miR-107 suppressed glioma cell growth through direct targeting of SALL4.
23758232 SALL4 is a marker for a progenitor subclass of hepatocellular carcinoma with an aggressive phenotype. Our data suggest that the SALL4 peptide is a potential targeted therapy for a subgroup of hepatocellular carcinomas.
23687435 A novel truncating mutation was identified in the SALL4 gene that leads to diversified clinical features of Duane retraction syndrome in a Chinese family.
23432194 Tyrosine kinase inhibitor exposure facilitates a protective loop of SALL4 and ABCA3 cooperation in persistent leukaemic cells.
23363002 Along with the promising evidence of its role in self-renewal in various cancers, SALL4 may have a role in progression, development and maintenance of colorectal cancers.
23347651 Forty-six percent (32/69) of hepatocellular carcinoma and all yolk sac tumors revealed at least focal expression of SALL4.
23287862 The mechanism of SALL4 in promoting leukemogenesis is at least in part mediated by its repression of the tumor suppressor phosphatase and tensin homolog deleted on chromosome 10 (PTEN) through its interaction with a histone deacetylase (HDAC) complex.
23201546 Hypomethylation of SALL4 promoter is a common event and is associated with the intermediate and poor karyotypes in acute myeloid leukemia.
23122807 hypomethylation of SALL4 promoter is a common event in myelodysplastic syndrome (MDS).
23112162 SALL4 and KLF5 were aberrantly expressed in the CDX1(+) intestinal metaplasia of the stomach. Sustained expression of CDX1 gave rise to the induction of early intestinal-stemness markers, followed by the expression of intestinal-differentiation markers.
23012367 Sumoylation is important for stability, subcellular localization, and transcriptional activity of SALL4, an essential stem cell transcription factor
22934838 SALL4 is a key regulator in normal human hematopoiesis and the mechanism of its function is at least in part through the HOXA9.
22832114 This result indicates that SALL4 and SF-1 could be used to distinguish Granulosa cell and yolk sac tumors
22743134 SALL4 knockdown results in downregulation of anti-apoptotic proteins, activation of the caspases.
22555391 The emerging knowledge about how SALL4 regulates HSC behavior may be used in the near future to develop advanced cell therapies, for example, through large-scale stem cell expansion ex vivo.
22516245 Alpha-fetoprotein-producing gastric carcinoma and combined hepatocellular and cholangiocarcinoma show similar morphology but different histogenesis with respect to SALL4 expression.
22448662 SALL4 is a more sensitive and specific marker for yolk sac tumors than glypican-3
22128185 stem cell self-renewal mediated by SALL4 via epigenetic machinery.
21725617 SALL4 mRNA was highly expressed even in the early clinical stages and there was no difference in the positivity rate between stage IA and other stagesin lung cancer.
21526180 SALL4 was able to bind to the promoter region of ABCA3 and activate its expression while regulating the expression of ABCG2 indirectly.
21468036 SALL4 has an important role in the proliferation and survival of CML cells & its expression is associated with an advanced stage of CML disease. This is mediated by the Bmi-1 pathway.
21417895 Of the 16 malignant rhabdoid tumors, 14 (88%) tumors showed robust SALL4 and/or LIN28 expression.
21405998 No genetic variations were detected in the coding region and in the neighboring intronic regions of the SALL4 gene suggesting an alternative mechanism in the pathogenesis
21274508 SALL4 is essential for cancer cell proliferation and is overexpressed at early clinical stages in breast cancer
21258884 High SALL4 expression is associated with Wilms tumors.
21057460 For primary extragonadal yolk sac tumors, combining LIN28 and SALL4 can achieve a higher diagnostic sensitivity than either alone.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20505821 SALL4 is a master regulator that controls its own expression and the expression of OCT4.
20182341 SALL4 is a sensitive marker for AFP-producing gastric carcinoma and is especially useful to distinguish hepatoid gastric carcinoma from hepatocellular carcinoma.
19820689 SALL4 is a novel sensitive diagnostic marker for primary germ cell tumors of the central nervous system.
19781444 SALL4 plays a critical role in the pathogenesis of MDS by causing the aberrant activation of the Wnt/beta-catenin pathway.
19619907 SALL4 may be a potential candidate gene for ventricular septal defect.
19619907 Observational study of gene-disease association. (HuGE Navigator)
19581335 This is the first report to suggest that SALL4 might be a potential candidate gene of premature ovarian failure.
19574883 SALL4 is a more sensitive marker than PLAP, AFP, or glypican-3 for extragonadal yolk sac tumors.
19476507 These results demonstrated that Sall4 plays positive roles in the generation of pluripotent stem cells from blastocysts and fibroblasts.
19440552 Data demonstrate that stem cell protein SALL4 represses its target genes, PTEN and SALL1, through the epigenetic repressor Mi-2/NuRD complex.
19390421 SALL4 is a novel sensitive and relatively specific marker for testicular germ cell tumors
19295406 SALL4 is a novel sensitive and specific marker for ovarian primitive germ cell tumors
19247946 Studies indicate that vertebrate sal orthologues (spalt-like/sall) have important developmental roles during neural development and organogenesis and gentic diseases.
19151334 Down-regulation of the STAT3 activity using a dominant-negative construct resulted in a significant decrease in the expression of SALL4.
19099625 SALL4 and BMI-1 expressions are up-regulated significantly in acute leukemia.
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18487508 mapped the global gene targets of SALL4 and identified more than 2000 high-confidence, SALL4-binding genes in the human acute promyelocytic leukemic cell line, NB4
18414659 the reprogramming activity of Sall4 is independent of an N-terminal domain implicated in recruiting the nucleosome remodeling and deacetylase corepressor complex, a global transcriptional repressor
18299846 A not previously described mutation of the SALL4 gene in exon 4.
17623483 The detection and molecular characterization of four novel, overlapping microdeletions, all spanning SALL4 and flanking genes, in four unrelated cases with features of Okihiro syndrome and variable degrees of psychomotor delay, is reported.
17557835 BMI1 is a target gene for SALL4 in leukemic cells.
17546590 Results implied a possible association between epigenetic silencing of SALL4 and tumor cell aneuploidy.
17256792 mutation in the SALL4 gene causes IVIC syndrome(an autosomal dominant condition,hearing loss, heart murmur..)
16763212 SALL4 is constitutively expressed in primary acute myeloid leukemia
16411190 A novel nonsense mutation in the SALL4 gene was detected in all affected family members and obligate carriers.
16086360 analysis of SALL4 defects and associated syndromes (including Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome) and description of the clinical distinctions with similar phenotypes caused by other gene defects
15386473 no SALL4 mutations in twenty-five Duane Tretration "syndrome" patients
15342710 Okihiro syndrome may also be caused by heterozygous deletions either of the whole SALL4 coding region or of single exons
15329836 Mutations and birth defects caused by thalidomide exposure.
12395297 The first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes.
12393809 Okihiro syndrome is caused by SALL4 mutations

AA Sequence

AVS                                                                      1051 - 1053

Text Mined References (105)

PMID Year Title
26892498 2016 SALL4, the missing link between stem cells, development and cancer.
26818834 2016 The zinc-finger transcription factor SALL4 is frequently expressed in human cancers: association with clinical outcome in squamous cell carcinoma but not in adenocarcinoma of the esophagus.
26791099 2016 Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
26779651 2016 Expression and clinical significance of SALL4 and ?-catenin in colorectal cancer.
26750614 2016 SALL4 is a marker of poor prognosis in serous ovarian carcinoma promoting invasion and metastasis.
26617716 2015 Inhibition of SALL4 suppresses carcinogenesis of colorectal cancer via regulating Gli1 expression.
26407074 2015 SALL4 as an Epithelial-Mesenchymal Transition and Drug Resistance Inducer through the Regulation of c-Myc in Endometrial Cancer.
26317546 2015 SALL4 is a novel therapeutic target in intrahepatic cholangiocarcinoma.
26238082 2015 miR-219-5p plays a tumor suppressive role in colon cancer by targeting oncogene Sall4.
25919570 2015 MicroRNA-33b Inhibits Breast Cancer Metastasis by Targeting HMGA2, SALL4 and Twist1.
25823593 2015 An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25737450 2015 Knockdown of SALL4 Protein Enhances All-trans Retinoic Acid-induced Cellular Differentiation in Acute Myeloid Leukemia Cells.
25646965 2015 Significance of SALL4 as a drug?resistant factor in lung cancer.
25479928 2015 ERG and SALL4 expressions in SMARCB1/INI1-deficient tumors: a useful tool for distinguishing epithelioid sarcoma from malignant rhabdoid tumor.
25436325 Up-regulation of SALL4 associated with poor prognosis in gastric cancer. .
25359397 2015 The expression of SALL4 in patients with gliomas: high level of SALL4 expression is correlated with poor outcome.
25246269 2015 Sall4 overexpression blocks murine hematopoiesis in a dose-dependent manner.
25158072 2015 Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.
25156818 2015 SALL4 as a new biomarker for early colorectal cancers.
24860834 2014 Serum SALL4 is a novel prognosis biomarker with tumor recurrence and poor survival of patients in hepatocellular carcinoma.
24827994 2015 Differential SALL4 immunoexpression in malignant rhabdoid tumours and epithelioid sarcomas.
24805857 2014 SALL4 immunoreactivity predicts prognosis in Western hepatocellular carcinoma patients but is a rare event: a study of 236 cases.
24659265 2014 Stemness state regulators SALL4 and SOX2 are involved in progression and invasiveness of esophageal squamous cell carcinoma.
24626181 2014 Identification of the nuclear localization signal of SALL4B, a stem cell transcription factor.
24525512 2014 SALL4 expression in germ cell and non-germ cell tumors: a systematic immunohistochemical study of 3215 cases.
24486774 2014 SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.
24463278 2014 Aberrant expression of SALL4 in acute B cell lymphoblastic leukemia: mechanism, function, and implication for a potential novel therapeutic target.
24336327 2015 SALL4 is a new target in endometrial cancer.
24283704 2013 Stem cell factor SALL4, a potential prognostic marker for myelodysplastic syndromes.
24276240 2014 SALL4, a novel marker for human gastric carcinogenesis and metastasis.
24051379 2013 A SALL4/MLL/HOXA9 pathway in murine and human myeloid leukemogenesis.
24012616 2014 The transcription factor SALL4 regulates stemness of EpCAM-positive hepatocellular carcinoma.
23954296 2013 Sal-like 4 (SALL4) suppresses CDH1 expression and maintains cell dispersion in basal-like breast cancer.
23822878 2013 SALL4 is a marker of the embryonal subtype of hepatoblastoma.
23811124 2013 Low-expression of microRNA-107 inhibits cell apoptosis in glioma by upregulation of SALL4.
23758232 2013 Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.
23687435 2013 Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.
23432194 2013 Tyrosinekinase inhibition facilitates cooperation of transcription factor SALL4 and ABC transporter A3 towards intrinsic CML cell drug resistance.
23363002 2013 Role of SALL4 in the progression and metastasis of colorectal cancer.
23347651 2013 Immunohistochemical expression of SALL4 in hepatocellular carcinoma, a potential pitfall in the differential diagnosis of yolk sac tumors.
23287862 2013 Targeting transcription factor SALL4 in acute myeloid leukemia by interrupting its interaction with an epigenetic complex.
23201546 2013 Aberrant hypomethylation of SALL4 gene is associated with intermediate and poor karyotypes in acute myeloid leukemia.
23122807 2013 Aberrant hypomethylation of SALL4 gene in patients with myelodysplastic syndrome.
23112162 2012 CDX1 confers intestinal phenotype on gastric epithelial cells via induction of stemness-associated reprogramming factors SALL4 and KLF5.
23012367 2012 Sumoylation is important for stability, subcellular localization, and transcriptional activity of SALL4, an essential stem cell transcription factor.
22934838 2013 SALL4 is a key transcription regulator in normal human hematopoiesis.
22832114 2013 SALL4 and SF-1 are sensitive and specific markers for distinguishing granulosa cell tumors from yolk sac tumors.
22743134 2012 The expression and oncogenic effects of the embryonic stem cell marker SALL4 in ALK-positive anaplastic large cell lymphoma.
22555391 2012 Role of SALL4 in hematopoiesis.
22516245 2012 ?-Fetoprotein-producing gastric carcinoma and combined hepatocellular and cholangiocarcinoma show similar morphology but different histogenesis with respect to SALL4 expression.
22448662 2012 Diagnostic utility of CD117, CD133, SALL4, OCT4, TCL1 and glypican-3 in malignant germ cell tumors of the ovary.
22128185 2012 Stem cell gene SALL4 suppresses transcription through recruitment of DNA methyltransferases.
21914818 2011 A BEN-domain-containing protein associates with heterochromatin and represses transcription.
21725617 2011 Overexpression of SALL4 in lung cancer and its importance in cell proliferation.
21526180 2011 SALL4, a stem cell factor, affects the side population by regulation of the ATP-binding cassette drug transport genes.
21468036 2011 Dissecting the role of SALL4, a newly identified stem cell factor, in chronic myelogenous leukemia.
21417895 Immunohistochemical expression of embryonic stem cell markers in malignant rhabdoid tumors.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21405998 2011 Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population.
21274508 2011 SALL4 is essential for cancer cell proliferation and is overexpressed at early clinical stages in breast cancer.
21258884 2011 Immunoexpression of SALL4 in Wilms tumors and developing kidney.
21057460 2011 RNA-binding protein LIN28 is a marker for primary extragonadal germ cell tumors: an immunohistochemical study of 131 cases.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20505821 2010 A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells.
20182341 2010 SALL4 represents fetal gut differentiation of gastric cancer, and is diagnostically useful in distinguishing hepatoid gastric carcinoma from hepatocellular carcinoma.
19820689 2009 Diagnostic utility of SALL4 in primary germ cell tumors of the central nervous system: a study of 77 cases.
19781444 2009 Overexpression of the novel oncogene SALL4 and activation of the Wnt/beta-catenin pathway in myelodysplastic syndromes.
19619907 2010 Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect.
19581335 2009 Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.
19574883 2009 Diagnostic utility of SALL4 in extragonadal yolk sac tumors: an immunohistochemical study of 59 cases with comparison to placental-like alkaline phosphatase, alpha-fetoprotein, and glypican-3.
19478329 Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.
19476507 2009 Roles of Sall4 in the generation of pluripotent stem cells from blastocysts and fibroblasts.
19440552 2009 Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex.
19390421 2009 SALL4 is a novel diagnostic marker for testicular germ cell tumors.
19295406 2009 SALL4 is a novel sensitive and specific marker of ovarian primitive germ cell tumors and is particularly useful in distinguishing yolk sac tumor from clear cell carcinoma.
19247946 2009 Regulation and function of Spalt proteins during animal development.
19151334 2009 Signal transducer and activator of transcription 3 is a transcriptional factor regulating the gene expression of SALL4.
19099625 2008 [Expression of SALL4 and BMI-1 mRNA in acute leukemia].
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18487508 2008 SALL4 is a key regulator of survival and apoptosis in human leukemic cells.
18414659 2008 High-efficiency stem cell fusion-mediated assay reveals Sall4 as an enhancer of reprogramming.
18299846 2008 [Okihiro syndrome : Duane's syndrome and radial malformations of the limbs].
17623483 2007 Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
17557835 2007 Bmi-1 is a target gene for SALL4 in hematopoietic and leukemic cells.
17546590 2007 Novel approach for detecting global epigenetic alterations associated with tumor cell aneuploidy.
17256792 2007 IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
16763212 2006 SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice.
16545361 2006 The vertebrate spalt genes in development and disease.
16411190 2006 A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.
16402211 2006 A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16086360 2005 SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15386473 2004 No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS).
15342710 2004 SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
15329836 2004 Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide.
15286162 2004 Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12843316 2003 Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12395297 2002 Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
12393809 2002 Okihiro syndrome is caused by SALL4 mutations.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.