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Aliases for SALL2 Gene

Aliases for SALL2 Gene

  • Spalt-Like Transcription Factor 2 2 3
  • HSAL2 3 4 6
  • Zinc Finger Protein Spalt-2 3 4
  • Zinc Finger Protein SALL2 3 4
  • Zinc Finger Protein 795 3 4
  • ZNF795 3 4
  • Sal-2 3 4
  • Sal (Drosophila)-Like 2 2
  • Sal-Like 2 (Drosophila) 2
  • Sal-Like Protein 2 3
  • P150(Sal2) 3
  • KIAA0360 4
  • COLB 3
  • SAL2 4

External Ids for SALL2 Gene

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. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. 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

Genomic Location for SALL2 Gene

Start:
21,521,080 bp from pter
End:
21,537,216 bp from pter
Size:
16,137 bases
Orientation:
Minus strand

Genomic View for SALL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SALL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SALL2 Gene

Regulatory Elements for SALL2 Gene

Proteins for SALL2 Gene

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

    Protein Symbol:
    Q9Y467-SALL2_HUMAN
    Recommended name:
    Sal-like protein 2
    Protein Accession:
    Q9Y467
    Secondary Accessions:
    • B2RMX6
    • B9EGK8
    • Q8N656
    • Q9Y4G1

    Protein attributes for SALL2 Gene

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

    Alternative splice isoforms for SALL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SALL2 Gene

Proteomics data for SALL2 Gene at MOPED

Post-translational modifications for SALL2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys911

No data available for DME Specific Peptides for SALL2 Gene

Domains for SALL2 Gene

Gene Families for SALL2 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for SALL2 Gene

UniProtKB/Swiss-Prot:

SALL2_HUMAN
Family:
  • Belongs to the sal C2H2-type zinc-finger protein family.:
    • Q9Y467
Similarity:
  • Contains 7 C2H2-type zinc fingers.:
    • Q9Y467
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:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SALL2: view
genes like me logo Genes that share phenotypes with SALL2: view

Animal Models for SALL2 Gene

MGI Knock Outs for SALL2:

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

Localization for SALL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SALL2 Gene

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for SALL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0016581 NuRD complex IEA --
genes like me logo Genes that share ontologies with SALL2: view

Pathways 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 IEA --
GO:0001654 eye development IDA 24412933
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0021915 neural tube development IEA --
genes like me logo Genes that share ontologies with SALL2: view

No data available for Pathways by source for SALL2 Gene

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: - - - - -
SP4:
SP5: - - -
SP6: - -

Relevant External Links for SALL2 Gene

GeneLoc Exon Structure for
SALL2
ECgene alternative splicing isoforms for
SALL2

Expression for SALL2 Gene

mRNA expression in normal human tissues for SALL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Cerebellum (5.5) and Brain - Cerebellar Hemisphere (5.1).

Integrated Proteomics: protein expression 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

Q9Y467-SALL2_HUMAN
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 expressions with SALL2: view

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
chimpanzee
(Pan troglodytes)
Mammalia SALL2 36
  • 99.64 (n)
  • 99.21 (a)
SALL2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SALL2 37
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sall2 36
  • 85.96 (n)
  • 88.55 (a)
Sall2 16
Sall2 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SALL2 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sall2 36
  • 85.82 (n)
  • 88.55 (a)
lizard
(Anolis carolinensis)
Reptilia SALL2 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sall2 36
  • 58.76 (n)
  • 61.24 (a)
zebrafish
(Danio rerio)
Actinopterygii SALL2 37
  • 23 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta salm 37
  • 15 (a)
ManyToMany
salr 37
  • 15 (a)
ManyToMany
salm 38
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea sem-4 37
  • 15 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FZF1 37
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 16 (a)
ManyToMany
-- 37
  • 15 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for SALL2 (if available)
TreeFam:
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 MAF
rs712322 -- 21,521,707(+) CAAAA(A/G)TGCTC utr-variant-3-prime, nc-transcript-variant
rs741707 -- 21,522,047(-) GCACC(C/T)AAGGC reference, synonymous-codon, utr-variant-3-prime, nc-transcript-variant
rs1001855 -- 21,530,782(-) aaata(C/T)tttaa intron-variant
rs1122695 -- 21,530,079(+) GTCCC(C/T)TCCCT intron-variant
rs1124981 -- 21,522,403(+) GAGGA(A/G)AGAGG intron-variant, utr-variant-3-prime

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

Relevant External Links for SALL2 Gene

HapMap Linkage Disequilibrium report
SALL2
Human Gene Mutation Database (HGMD)
SALL2

Disorders for SALL2 Gene

UniProtKB/Swiss-Prot

SALL2_HUMAN
  • 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)
SALL2
Human Genome Epidemiology (HuGE) Navigator
SALL2
genes like me logo Genes that share disorders with SALL2: view

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
  2. Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells. (PMID: 18655026) Tan F. … Peng X. (Proteomics 2008) 3 4
  3. Mutation of SALL2 causes recessive ocular coloboma in humans and mice. (PMID: 24412933) Kelberman D. … Sowden J.C. (Hum. Mol. Genet. 2014) 3 4
  4. 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
  5. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4

Products for SALL2 Gene

Sources for SALL2 Gene

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