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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
42
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Piebaldism Uncertain significance; Likely benign; Benign rs577991090, rs529175130, rs751125107, rs186986959, rs566724701, rs11544359, rs576060545, rs886062983, rs886062984, rs371076039, rs886062985, rs78830147, rs886062986, rs886062987, rs370952195
View all (17 more)
RCV000261701
RCV000376303
RCV000267513
RCV000350118
RCV000381949
RCV000385458
RCV000293671
RCV000400858
RCV000260378
RCV000381494
RCV000289352
RCV000356452
RCV000299485
RCV000303169
RCV000397450
RCV000314839
RCV000356920
RCV001161495
RCV001164991
RCV001164992
RCV001160079
RCV001160080
RCV001160081
RCV001160082
RCV001160083
RCV001161493
RCV001161494
RCV001161496
RCV001163015
RCV001163016
RCV001165102
RCV001165103
SNAI2-related disorder Likely benign; Benign; Uncertain significance rs376110241, rs746846227, rs370952195, rs201920149, rs555086214, rs181954619 RCV003903383
RCV003898538
RCV004757223
RCV003912557
RCV003938192
RCV003930475
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 38016947
Adenocarcinoma Associate 18286686, 25120788, 27191723
Adenocarcinoma Mucinous Associate 32840168
Adenocarcinoma of Lung Associate 25120788, 27486982, 30321617, 31970942, 33021972, 36071042
Adenoma Pleomorphic Associate 35145202
Adenomyosis Stimulate 26307032
Alveolar Bone Loss Associate 34663464
Alzheimer Disease Stimulate 38016947
Anophthalmia with pulmonary hypoplasia Associate 37832352
Arthritis Rheumatoid Associate 20418652