Gene Gene information from NCBI Gene database.
Entrez ID 6615
Gene name Snail family transcriptional repressor 1
Gene symbol SNAI1
Synonyms (NCBI Gene)
SLUGH2SNASNAHSNAILSNAIL1dJ710H13.1
Chromosome 20
Chromosome location 20q13.13
Summary The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein,
miRNA miRNA information provided by mirtarbase database.
281
miRTarBase ID miRNA Experiments Reference
MIRT004651 hsa-miR-204-5p Luciferase reporter assay 20056717
MIRT006760 hsa-miR-30a-5p Luciferase reporter assayqRT-PCRWestern blot 21633953
MIRT006760 hsa-miR-30a-5p Luciferase reporter assayqRT-PCRWestern blot 21633953
MIRT006761 hsa-miR-30b-5p Luciferase reporter assayqRT-PCRWestern blot 21633953
MIRT006761 hsa-miR-30b-5p Luciferase reporter assayqRT-PCRWestern blot 21633953
Transcription factors Transcription factors information provided by TRRUST V2 database.
13
Transcription factor Regulation Reference
CREB1 Repression 15955695
ESRRA Repression 15955695
HMGA2 Unknown 22241470
HOXA10 Repression 16424022
ID2 Activation 22551584
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
77
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 11912130
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 15314165
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 11912130
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604238 11128 ENSG00000124216
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95863
Protein name Zinc finger protein SNAI1 (Protein snail homolog 1) (Protein sna)
Protein function Involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration (PubMed:10655587, PubMed:15647282, PubMed:20389281, PubMed:20562920, PubMed:2195
PDB 2Y48 , 3W5K , 3ZMT , 4QLI , 8BOX , 8F59 , 8FDV , 8FJ7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13912 zf-C2H2_6 153 177 Domain
PF00096 zf-C2H2 180 202 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 208 230 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a variety of tissues with the highest expression in kidney. Expressed in mesenchymal and epithelial cell lines. {ECO:0000269|PubMed:10655587}.
Sequence
MPRSFLVRKPSDPNRKPNYSELQDSNPEFTFQQPYDQAHLLAAIPPPEILNPTASLPMLI
WDSVLAPQAQPIAWASLRLQESPRVAELTSLSDEDSGKGSQPPSPPSPAPSSFSSTSVSS
LEAEAYAAFPGLGQVPKQLAQLSEAKDLQARKAFNCKYCNKEYLSLGALKMHIRSHTLPC
VCGTCGKAFSRPWLLQGHVRTH
TGEKPFSCPHCSRAFADRSNLRAHLQTHSDVKKYQCQA
CARTFSRMSLLHKHQESGCSGCPR
Sequence length 264
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
22q11 Deletion Syndrome 22q11 deletion syndrome BEFREE 17097888
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia BEFREE 18061568
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30791220
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25561901, 27191258, 29755680
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 29464030
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 28631560, 29424489
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 23029563
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 28887601
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 26183460
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 19018264 Associate
★☆☆☆☆
Found in Text Mining only