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Aliases for SALL2 Gene

Aliases for SALL2 Gene

  • Spalt-Like Transcription Factor 2 2 3 5
  • Zinc Finger Protein Spalt-2 3 4
  • Zinc Finger Protein SALL2 3 4
  • Zinc Finger Protein 795 3 4
  • ZNF795 3 4
  • HSAL2 3 4
  • Sal-2 3 4
  • Sal (Drosophila)-Like 2 2
  • Sal-Like 2 (Drosophila) 2
  • P150(Sal2) 3
  • KIAA0360 4
  • COLB 3
  • SAL2 4

External Ids for SALL2 Gene

Previous GeneCards Identifiers for SALL2 Gene

  • GC14M019361
  • GC14M015776
  • GC14M019979
  • GC14M019980
  • GC14M021059
  • GC14U900549
  • GC14M021989
  • GC14M002107

Summaries for SALL2 Gene

GeneCards Summary for SALL2 Gene

SALL2 (Spalt-Like Transcription Factor 2) is a Protein Coding gene. Diseases associated with SALL2 include Coloboma, Ocular, Autosomal Recessive and Coloboma. An important paralog of this gene is SALL3.

UniProtKB/Swiss-Prot for SALL2 Gene

  • Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure.

Gene Wiki entry for SALL2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SALL2 Gene

Genomics for SALL2 Gene

Regulatory Elements for SALL2 Gene

Enhancers for SALL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SALL2 on UCSC Golden Path with GeneCards custom track

Promoters for SALL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SALL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SALL2 Gene

21,521,080 bp from pter
21,537,216 bp from pter
16,137 bases
Minus strand

Genomic View for SALL2 Gene

Genes around SALL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SALL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SALL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SALL2 Gene

Proteins for SALL2 Gene

  • Protein details for SALL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sal-like protein 2
    Protein Accession:
    Secondary Accessions:
    • B2RMX6
    • B9EGK8
    • Q8N656
    • Q9Y4G1

    Protein attributes for SALL2 Gene

    1007 amino acids
    Molecular mass:
    105309 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA21638.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SALL2 Gene


neXtProt entry for SALL2 Gene

Proteomics data for SALL2 Gene at MOPED

Post-translational modifications for SALL2 Gene

  • Ubiquitination at Lys 911
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SALL2 Gene

Domains & Families for SALL2 Gene

Gene Families for SALL2 Gene

Protein Domains for SALL2 Gene

Suggested Antigen Peptide Sequences for SALL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sal C2H2-type zinc-finger protein family.
  • Contains 7 C2H2-type zinc fingers.
  • Belongs to the sal C2H2-type zinc-finger protein family.
  • Contains 7 C2H2-type zinc fingers.
genes like me logo Genes that share domains with SALL2: view

Function for SALL2 Gene

Molecular function for SALL2 Gene

GENATLAS Biochemistry:
brain specific transcription factor,Drosophila homeotic gene Sal-like 2,expressed in different brain areas
UniProtKB/Swiss-Prot Function:
Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure.

Gene Ontology (GO) - Molecular Function for SALL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0043565 sequence-specific DNA binding IBA --
GO:0044212 transcription regulatory region DNA binding IBA --
genes like me logo Genes that share ontologies with SALL2: view
genes like me logo Genes that share phenotypes with SALL2: view

Human Phenotype Ontology for SALL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SALL2 Gene

MGI Knock Outs for SALL2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SALL2 Gene

Localization for SALL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SALL2 Gene

Subcellular locations from

Jensen Localization Image for SALL2 Gene COMPARTMENTS Subcellular localization image for SALL2 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for SALL2 Gene

Pathways & Interactions for SALL2 Gene

SuperPathways for SALL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SALL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0001654 eye development IDA 24412933
GO:0045892 negative regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with SALL2: view

No data available for Pathways by source and SIGNOR curated interactions for SALL2 Gene

Drugs & Compounds for SALL2 Gene

No Compound Related Data Available

Transcripts for SALL2 Gene

mRNA/cDNA for SALL2 Gene

(5) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SALL2 Gene

Sal-like 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SALL2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b
SP1: - -
SP2: - - -
SP3: - - - - -
SP5: - - -
SP6: - -

Relevant External Links for SALL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SALL2 Gene

mRNA expression in normal human tissues for SALL2 Gene

mRNA differential expression in normal tissues according to GTEx for SALL2 Gene

This gene is overexpressed in Brain - Cerebellum (x5.5) and Brain - Cerebellar Hemisphere (x5.1).

Protein differential expression in normal tissues from HIPED for SALL2 Gene

This gene is overexpressed in Plasma (45.8) and Adipocyte (22.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SALL2 Gene

SOURCE GeneReport for Unigene cluster for SALL2 Gene Hs.416358

mRNA Expression by UniProt/SwissProt for SALL2 Gene

Tissue specificity: Highest levels in adult brain (in different areas). Lower levels in heart; very low levels in kidney and pancreas. Expressed throughout the retina and lens vesicle as well as the periocular mesenchyme.
genes like me logo Genes that share expression patterns with SALL2: view

Protein tissue co-expression partners for SALL2 Gene

- Elite partner

Primer Products

Orthologs for SALL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SALL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Sall2 35
  • 85.96 (n)
  • 88.55 (a)
Sall2 16
Sall2 36
  • 91 (a)
(Pan troglodytes)
Mammalia SALL2 35
  • 99.64 (n)
  • 99.21 (a)
SALL2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Sall2 35
  • 85.82 (n)
  • 88.55 (a)
(Canis familiaris)
Mammalia SALL2 36
  • 70 (a)
(Monodelphis domestica)
Mammalia SALL2 36
  • 80 (a)
(Anolis carolinensis)
Reptilia SALL2 36
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sall2 35
  • 58.76 (n)
  • 61.24 (a)
(Danio rerio)
Actinopterygii SALL2 36
  • 23 (a)
fruit fly
(Drosophila melanogaster)
Insecta salm 37
  • 59 (a)
salm 36
  • 15 (a)
salr 36
  • 15 (a)
(Caenorhabditis elegans)
Secernentea sem-4 36
  • 15 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FZF1 36
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 16 (a)
-- 36
  • 15 (a)
Species with no ortholog for SALL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SALL2 Gene

Gene Tree for SALL2 (if available)
Gene Tree for SALL2 (if available)

Paralogs for SALL2 Gene

Paralogs for SALL2 Gene

genes like me logo Genes that share paralogs with SALL2: view

Variants for SALL2 Gene

Sequence variations from dbSNP and Humsavar for SALL2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs2242527 - 21,525,504(+) CCGAA(C/G)AGTTG nc-transcript-variant, reference, missense
rs1263811 - 21,525,364(+) CCCTG(A/G)AGACT nc-transcript-variant, reference, missense
rs1263810 - 21,523,492(+) ACTCC(A/C/G)TGCCC intron-variant, reference, missense
rs712322 -- 21,521,707(+) CAAAA(A/G)TGCTC nc-transcript-variant, utr-variant-3-prime
rs2874099 -- 21,535,955(+) TGGGT(G/T)TAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SALL2 Gene

Variant ID Type Subtype PubMed ID
esv2422459 CNV Duplication 17116639
nsv522850 CNV Gain 19592680
esv2660046 CNV Deletion 23128226

Variation tolerance for SALL2 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.78; 89.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SALL2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SALL2 Gene

Disorders for SALL2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SALL2 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coloboma, ocular, autosomal recessive
  • coar
  • coloboma of eye
coloboma, ocular
  • ocular coloboma
townes-brocks syndrome
  • townes-brocks branchiootorenal-like syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SALL2 in MalaCards View complete list of genes associated with diseases


  • Coloboma, ocular, autosomal recessive (COAR) [MIM:216820]: An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. {ECO:0000269 PubMed:24412933}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SALL2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SALL2: view

No data available for Genatlas for SALL2 Gene

Publications for SALL2 Gene

  1. Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. (PMID: 8975705) Kohlhase J. … Stick R. (Genomics 1996) 2 3 4 67
  2. Tissue microarray validation of epidermal growth factor receptor and SALL2 in synovial sarcoma with comparison to tumors of similar histology. (PMID: 14507652) Nielsen T.O. … van de Rijn M. (Am. J. Pathol. 2003) 3 23
  3. Sal-like protein 2 upregulates p16 expression through a proximal promoter element. (PMID: 25580951) Wu Z. … Li D. (Cancer Sci. 2015) 3
  4. The tumor suppressor protein p150(Sal2) in carcinogenesis. (PMID: 25608837) Sung C.K. … Yim H. (Tumour Biol. 2015) 3
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3

Products for SALL2 Gene

Sources for SALL2 Gene