SALL3 (spalt like transcription factor 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27164
Gene name Gene Name - the full gene name approved by the HGNC.
Spalt like transcription factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SALL3
Synonyms (NCBI Gene) Gene synonyms aliases
ZNF796
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital d
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(192)
miRTarBase ID miRNA Experiments Reference
MIRT040159 hsa-miR-615-3p CLASH 23622248
MIRT622368 hsa-miR-556-3p HITS-CLIP 23824327
MIRT622367 hsa-miR-4668-5p HITS-CLIP 23824327
MIRT242672 hsa-miR-301b-3p PAR-CLIP 21572407
MIRT242674 hsa-miR-4295 PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0006357 Process Regulation of transcription by RNA polymerase II IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605079 10527 ENSG00000256463
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9BXA9
Protein name Sal-like protein 3 (Zinc finger protein 796) (Zinc finger protein SALL3) (hSALL3)
Protein function Probable transcription factor.
PDB 7Y3L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 448 → 470 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 707 → 729 Zinc finger, C2H2 type Domain
PF12874 zf-met 739 → 759 Domain
PF12874 zf-met 977 → 1000 Domain
PF00096 zf-C2H2 1113 → 1135 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 1141 → 1163 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in adult with highest levels in heart. Expressed in fetal brain (in neurons of hippocampus, cortex, mediodorsal and ventrolateral thalamic nuclei, putamen, cerebellum and brainstem).
Sequence 
MSRRKQAKPQHLKSDEELLPPDGAPEHAAPGEGAEDADSGPESRSGGEETSVCEKCCAEF
FKWADFLEHQRSCTKLPPVLIVHEDAPAPPPEDFPEPSPASSPSERAESEAAEEAGAEGA
EGEARPVEKEAEPMDAEPAGDTRAPRPPPAAPAPPTPAYGAPSTNVTLEALLSTKVAVAQ
FSQGARAAGGSGAGGGVAAAAVPLILEQLMALQQQQIHQLQLIEQIRSQVALMQRPPPRP
SLSPAAAPSAPGPAPSQLPGLAALPLSAGAPAAAIAGSGPAAPAAFEGAQPLSRPESGAS
TPGGPAEPSAPAAPSAAPAPAAPAPAPAPQSAASSQPQSASTPPALAPGSLLGAAPGLPS
PLLPQTSASGVIFPNPLVSIAATANALDPLSALMKHRKGKPPNVSVFEPKASAEDPFFKH
KCRFCAKVFGSDSALQIHLRSHTGERPFKCNICGNRFSTKGNLKVHFQRHKEKYPHIQMN
PYPVPEYLDNVPTCSGIPYGMSLPPEKPVTTWLDSKPVLPTVPTSVGLQLPPTVPGAHGY
ADSPSATPASRSPQRPSPASSECASLSPGLNHVESGVSATAESPQSLLGGPPLTKAEPVS
LPCTNARAGDAPVGAQASAAPTSVDGAPTSLGSPGLPAVSEQFKAQFPFGGLLDSMQTSE
TSKLQQLVENIDKKMTDPNQCVICHRVLSCQSALKMHYRTHTGERPFKCKICGRAFTTKG
NLKTHFGVHRAKPPLRVQHSCPICQKKFTNAVVLQQHIRMHMGGQIPNTPLPEGFQDAMD
SELAYDDKNAETLSSYDDDMDENSMEDDAELKDAATDPAKPLLSYAGSCPPSPPSVISSI
AALENQMKMIDSVMSCQQLTGLKSVENGSGESDRLSNDSSSAVGDLESRSAGSPALSESS
SSQALSPAPSNGESFRSKSPGLGAPEEPQEIPLKTERPDSPAAAPGSGGAPGRAGIKEEA
PFSLLFLSRERGKCPSTVCGVCGKPFACKSALEIHYRSHTKERPFVCALCRRGCSTMGNL
KQHLLTHRLKELPSQLFDPNFALGPSQSTPSLISSAAPTMIKMEVNGHGKAMALGEGPPL
PAGVQVPAGPQTVMGPGLAPMLAPPPRRTPKQHNCQSCGKTFSSASALQIHERTHTGEKP
FGCTICGRAFTTKGNLKVHMGTHMWNNAPARRGRRLSVENPMALLGGDALKFSEMFQKDL
AARAMNVDPSFWNQYAAAITNGLAMKNNEISVIQNGGIPQLPVSLGGSALPPLGSMASGM
DKARTGSSPPIVSLDKASSETAASRPFTRFIEDNKEIGIN
Sequence length 1300
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-microphthalmia syndrome N/A N/A ClinVar
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Burkitt Lymphoma Associate 23143597
Carcinogenesis Associate 28616099
Carcinoma Hepatocellular Associate 19139273, 22690083
Colorectal Neoplasms Associate 25774687
COVID 19 Associate 37990144
Head and Neck Neoplasms Associate 28616099
Klippel Trenaunay Weber Syndrome Associate 27901321
Lung Neoplasms Associate 18332107
Neoplasms Associate 19139273, 25774687, 28616099
Neoplasms Inhibit 22690083