Gene Gene information from NCBI Gene database.
Entrez ID 6591
Gene name Snail family transcriptional repressor 2
Gene symbol SNAI2
Synonyms (NCBI Gene)
SLUGSLUGHSLUGH1SNAIL2WS2D
Chromosome 8
Chromosome location 8q11.21
Summary This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. T
miRNA miRNA information provided by mirtarbase database.
311
miRTarBase ID miRNA Experiments Reference
MIRT003273 hsa-miR-204-5p Luciferase reporter assay 20056717
MIRT003273 hsa-miR-204-5p Luciferase reporter assay 20056717
MIRT003273 hsa-miR-204-5p Luciferase reporter assay 20056717
MIRT002716 hsa-miR-124-3p Microarray 15685193
MIRT002716 hsa-miR-124-3p Luciferase reporter assay 22253443
Transcription factors Transcription factors information provided by TRRUST V2 database.
16
Transcription factor Regulation Reference
CREB1 Repression 15955695
ESRRA Repression 15955695
EZH2 Repression 23836662
HDAC1 Repression 18588516
HDAC2 Repression 23836662
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
86
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10866665, 11912130, 15737616, 16707493
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 17984306, 18663143
GO:0000785 Component Chromatin IDA 16707493, 19756381
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
602150 11094 ENSG00000019549
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43623
Protein name Zinc finger protein SNAI2 (Neural crest transcription factor Slug) (Protein snail homolog 2)
Protein function Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occlu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 128 150 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 159 181 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 185 207 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 213 235 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 241 262 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in most adult human tissues, including spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Not detected in peripheral blood leukocyte. Ex
Sequence
MPRSFLVKKHFNASKKPNYSELDTHTVIISPYLYESYSMPVIPQPEILSSGAYSPITVWT
TAAPFHAQLPNGLSPLSGYSSSLGRVSPPPPSDTSSKDHSGSESPISDEEERLQSKLSDP
HAIEAEKFQCNLCNKTYSTFSGLAKHKQLHCDAQSRKSFSCKYCDKEYVSLGALKMHIRT
H
TLPCVCKICGKAFSRPWLLQGHIRTHTGEKPFSCPHCNRAFADRSNLRAHLQTHSDVKK
YQCKNCSKTFSRMSLLHKHEESGCCVAH
Sequence length 268
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCINOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS 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
Absent pigmentation of the ventral chest Absent pigmentation of the ventral chest HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 23456319, 25686823, 26496316
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 27191723
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27323831
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 25409617
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 38016947 Stimulate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 26496316
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 27029493, 30368884
★☆☆☆☆
Found in Text Mining only
Anomalous pulmonary artery Anomalous Pulmonary Artery HPO_DG
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 37832352 Associate
★☆☆☆☆
Found in Text Mining only