SNAI2 (snail family transcriptional repressor 2) - Rat Genome Database

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Gene: SNAI2 (snail family transcriptional repressor 2) Homo sapiens
Analyze
Symbol: SNAI2
Name: snail family transcriptional repressor 2
RGD ID: 735659
HGNC Page HGNC:11094
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and E-box binding activity. Involved in several processes, including mesenchymal cell differentiation; negative regulation of cellular biosynthetic process; and negative regulation of signal transduction. Located in nucleus. Is active in chromatin. Implicated in Waardenburg syndrome type 2D and piebaldism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC10182; neural crest transcription factor SLUG; SLUG; slug (chicken homolog), zinc finger protein; SLUGH; SLUGH1; snail 2; snail family zinc finger 2; snail homolog 2; SNAIL2; WS2D; zinc finger protein SNAI2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38848,917,598 - 48,921,429 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl848,917,598 - 48,921,740 (-)EnsemblGRCh38hg38GRCh38
GRCh37849,830,157 - 49,833,988 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36849,992,789 - 49,996,541 (-)NCBINCBI36hg18NCBI36
Build 34849,992,795 - 49,996,541NCBI
Celera845,817,447 - 45,821,199 (-)NCBI
Cytogenetic Map8q11.21NCBI
HuRef845,294,292 - 45,298,055 (-)NCBIHuRef
CHM1_1849,882,550 - 49,886,313 (-)NCBICHM1_1
T2T-CHM13v2.0849,295,468 - 49,299,299 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (EXP)
(S)-naringenin  (EXP)
(S)-nicotine  (EXP,ISO)
1,4-dithiothreitol  (EXP)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-Dihydroxybenzophenone  (EXP)
2-ethylhexan-1-ol  (ISO)
2-Ethylhexanoic acid  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3'-diindolylmethane  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-Nitrobenzanthrone  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-tert-Octylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
acrylonitrile  (EXP)
acteoside  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
AM-251  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antimycin A  (EXP,ISO)
arachidonic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
belinostat  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
buta-1,3-diene  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chloroprene  (ISO)
chlorpyrifos  (EXP)
chromium(6+)  (EXP)
chrysene  (ISO)
chrysin  (EXP)
ciprofloxacin  (EXP)
cisplatin  (EXP)
colforsin daropate hydrochloride  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
deguelin  (EXP)
delphinidin  (EXP)
Destruxin B  (EXP)
dexamethasone  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
Dictamnine  (EXP)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
embelin  (EXP)
endosulfan  (EXP,ISO)
entinostat  (ISO)
erlotinib hydrochloride  (EXP)
fenpyroximate  (EXP)
fenthion  (ISO)
ferulic acid  (ISO)
flavonol  (EXP)
fluoranthene  (ISO)
flusilazole  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
galaxolide  (EXP)
gamma-hexachlorocyclohexane  (ISO)
gefitinib  (EXP)
genistein  (EXP)
gentamycin  (ISO)
gingerol  (EXP)
Ginkgoic acid  (EXP)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
isoorientin  (EXP)
isoprene  (EXP)
L-1,4-dithiothreitol  (EXP)
lapatinib  (EXP)
leflunomide  (EXP)
LY294002  (EXP)
mangiferin  (EXP)
mercury dibromide  (EXP)
metformin  (ISO)
methidathion  (ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
MK-2206  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (EXP,ISO)
nickel dichloride  (EXP)
niclosamide  (EXP)
nicotine  (EXP,ISO)
Nonylphenol  (EXP)
oridonin  (EXP)
ozone  (ISO)
p-tert-Amylphenol  (EXP)
palbociclib  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
parathion  (ISO)
patulin  (ISO)
perfluorononanoic acid  (EXP)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
plerixafor  (EXP)
pyrimidifen  (EXP)
quercetin  (ISO)
quercitrin  (EXP)
rac-lactic acid  (EXP)
reparixin  (EXP)
resveratrol  (EXP)
retinyl acetate  (ISO)
rotenone  (EXP,ISO)
SB 203580  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
sorafenib  (EXP)
stattic  (EXP)
succimer  (EXP)
sulforaphane  (EXP)
tacrolimus hydrate  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triacsin C  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zearalenone  (EXP)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aortic valve morphogenesis  (TAS)
cartilage morphogenesis  (IEA,ISO)
cell migration involved in endocardial cushion formation  (IEA,ISS)
cellular response to epidermal growth factor stimulus  (IDA)
cellular response to fibroblast growth factor stimulus  (ISO)
cellular response to ionizing radiation  (IEA,ISO)
desmosome disassembly  (IEA,IMP)
endothelial cell migration  (IEA,ISO)
epithelial cell migration  (IEA,ISO)
epithelial to mesenchymal transition  (IEA,IMP,ISO)
epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISO,ISS,TAS)
epithelium development  (IEA,ISS)
hematopoietic stem cell proliferation  (IEA,ISO)
myeloid cell apoptotic process  (IEA,ISO)
negative regulation of anoikis  (IMP)
negative regulation of canonical Wnt signaling pathway  (IDA,IMP)
negative regulation of cell adhesion involved in substrate-bound cell migration  (IEA,ISO)
negative regulation of cell adhesion mediated by integrin  (IDA)
negative regulation of chondrocyte differentiation  (IMP)
negative regulation of DNA damage response, signal transduction by p53 class mediator  (IMP)
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  (IEA,ISO,ISS)
negative regulation of hematopoietic stem cell proliferation  (IEA,ISO)
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  (IMP)
negative regulation of keratinocyte proliferation  (IDA)
negative regulation of myeloid cell apoptotic process  (IEA,ISO)
negative regulation of stem cell proliferation  (IEA)
negative regulation of transcription by RNA polymerase II  (IDA,IEA,IMP,ISO)
negative regulation of vitamin D biosynthetic process  (IDA)
negative regulation of vitamin D receptor signaling pathway  (IDA)
neural crest cell development  (IMP)
Notch signaling involved in heart development  (TAS)
Notch signaling pathway  (IMP)
osteoblast differentiation  (IEP)
pigmentation  (IEA,IMP)
positive regulation of cell migration  (IMP)
positive regulation of fat cell differentiation  (IEA,ISO)
positive regulation of histone acetylation  (IEA,ISO)
regulation of bicellular tight junction assembly  (IMP)
regulation of branching involved in salivary gland morphogenesis  (IEA,ISO)
regulation of chemokine production  (IMP)
regulation of DNA-templated transcription  (IBA)
regulation of osteoblast differentiation  (IMP)
response to radiation  (IEA,ISO)
roof of mouth development  (IEA,ISO)
sensory perception of sound  (IEA,IMP)
substrate-dependent cell migration  (IEA,ISO)
white fat cell differentiation  (IEA,ISO)

Cellular Component
chromatin  (IDA)
cytoplasm  (IEA)
nucleoplasm  (TAS)
nucleus  (IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. SLUG (SNAI2) deletions in patients with Waardenburg disease. Sanchez-Martin M, etal., Hum Mol Genet. 2002 Dec 1;11(25):3231-6.
Additional References at PubMed
PMID:8125298   PMID:9182671   PMID:9337409   PMID:9721220   PMID:10479723   PMID:10518215   PMID:10866665   PMID:11912130   PMID:12477932   PMID:14673164   PMID:15314165   PMID:15337769  
PMID:15489334   PMID:15709186   PMID:15734731   PMID:15737616   PMID:16169465   PMID:16344560   PMID:16541421   PMID:16707493   PMID:16717446   PMID:16924233   PMID:16952353   PMID:17194444  
PMID:17724139   PMID:17984306   PMID:18056415   PMID:18160708   PMID:18256147   PMID:18485278   PMID:18588516   PMID:18628477   PMID:18663143   PMID:18685621   PMID:18716062   PMID:18799618  
PMID:18853422   PMID:19046938   PMID:19274049   PMID:19381684   PMID:19389926   PMID:19448627   PMID:19460752   PMID:19502595   PMID:19681038   PMID:19751508   PMID:19756381   PMID:19784072  
PMID:19821482   PMID:20019845   PMID:20101232   PMID:20128911   PMID:20138990   PMID:20150431   PMID:20418652   PMID:20503457   PMID:20509143   PMID:20564361   PMID:20565806   PMID:20594328  
PMID:20622260   PMID:20634891   PMID:20651304   PMID:20730573   PMID:20738754   PMID:20809941   PMID:20951801   PMID:21044962   PMID:21053100   PMID:21081648   PMID:21120639   PMID:21182836  
PMID:21199805   PMID:21207222   PMID:21274735   PMID:21470622   PMID:21532623   PMID:21593765   PMID:21632819   PMID:21645238   PMID:21645451   PMID:21647877   PMID:21656704   PMID:21785273  
PMID:21808237   PMID:21809991   PMID:21832049   PMID:21873635   PMID:22028892   PMID:22074556   PMID:22178381   PMID:22208948   PMID:22232246   PMID:22232555   PMID:22288519   PMID:22385965  
PMID:22421353   PMID:22471696   PMID:22490800   PMID:22493711   PMID:22496452   PMID:22503751   PMID:22508482   PMID:22658674   PMID:22727060   PMID:22745193   PMID:22801439   PMID:22820858  
PMID:22886823   PMID:22899291   PMID:22911700   PMID:22937066   PMID:22974478   PMID:23011797   PMID:23029385   PMID:23031797   PMID:23052737   PMID:23059759   PMID:23086238   PMID:23142026  
PMID:23190132   PMID:23226515   PMID:23244088   PMID:23248240   PMID:23250725   PMID:23352643   PMID:23354685   PMID:23410973   PMID:23430442   PMID:23434592   PMID:23438693   PMID:23447531  
PMID:23521708   PMID:23566666   PMID:23567973   PMID:23634282   PMID:23677639   PMID:23743248   PMID:23815612   PMID:23851495   PMID:23856032   PMID:23856093   PMID:23873763   PMID:23900394  
PMID:23911747   PMID:23992520   PMID:23996472   PMID:24001454   PMID:24027338   PMID:24036252   PMID:24100634   PMID:24210586   PMID:24233839   PMID:24280681   PMID:24367561   PMID:24379252  
PMID:24403312   PMID:24427353   PMID:24469056   PMID:24549638   PMID:24638100   PMID:24657653   PMID:24662746   PMID:24662826   PMID:24712489   PMID:24721839   PMID:24760686   PMID:24816252  
PMID:24830722   PMID:24870796   PMID:24894673   PMID:24984960   PMID:25031719   PMID:25100569   PMID:25117682   PMID:25141863   PMID:25151968   PMID:25256553   PMID:25317798   PMID:25322669  
PMID:25337226   PMID:25339068   PMID:25416956   PMID:25491625   PMID:25538040   PMID:25556164   PMID:25599843   PMID:25645291   PMID:25652255   PMID:25686823   PMID:25707493   PMID:25728608  
PMID:25728945   PMID:25784376   PMID:25812964   PMID:25855378   PMID:25871397   PMID:25893292   PMID:25928859   PMID:25944620   PMID:25982283   PMID:25997702   PMID:26124343   PMID:26170067  
PMID:26170144   PMID:26194471   PMID:26198055   PMID:26292259   PMID:26349748   PMID:26370982   PMID:26387547   PMID:26459371   PMID:26467042   PMID:26482776   PMID:26561205   PMID:26561320  
PMID:26571812   PMID:26676637   PMID:26700673   PMID:26764010   PMID:26781944   PMID:26810856   PMID:26840943   PMID:26841870   PMID:26861993   PMID:26918943   PMID:26940839   PMID:26992741  
PMID:27003026   PMID:27012210   PMID:27029493   PMID:27036045   PMID:27081041   PMID:27113480   PMID:27165081   PMID:27174021   PMID:27216178   PMID:27223436   PMID:27259250   PMID:27275536  
PMID:27277529   PMID:27287534   PMID:27315462   PMID:27368877   PMID:27385093   PMID:27441378   PMID:27451973   PMID:27479603   PMID:27495232   PMID:27524413   PMID:27540976   PMID:27718152  
PMID:27748910   PMID:27760172   PMID:27783945   PMID:27786352   PMID:27873103   PMID:27878953   PMID:27995335   PMID:28004751   PMID:28039463   PMID:28070118   PMID:28084395   PMID:28097141  
PMID:28128736   PMID:28146149   PMID:28192397   PMID:28215642   PMID:28269747   PMID:28271214   PMID:28334049   PMID:28334729   PMID:28349782   PMID:28473536   PMID:28500896   PMID:28504716  
PMID:28542126   PMID:28574664   PMID:28610956   PMID:28705116   PMID:28754589   PMID:28940639   PMID:28974196   PMID:29030587   PMID:29088851   PMID:29208672   PMID:29434190   PMID:29436661  
PMID:29604394   PMID:29674627   PMID:29700328   PMID:29739791   PMID:29803676   PMID:29849120   PMID:29921289   PMID:29929545   PMID:29989579   PMID:30026878   PMID:30189837   PMID:30198421  
PMID:30230545   PMID:30251328   PMID:30321617   PMID:30368884   PMID:30449457   PMID:30454887   PMID:30509125   PMID:30541610   PMID:30612578   PMID:30628644   PMID:30772441   PMID:30809294  
PMID:30823890   PMID:30844311   PMID:30972730   PMID:30997569   PMID:31011939   PMID:31020809   PMID:31037158   PMID:31165775   PMID:31190277   PMID:31241128   PMID:31271097   PMID:31291576  
PMID:31324391   PMID:31391462   PMID:31393789   PMID:31468711   PMID:31545257   PMID:31562393   PMID:31570789   PMID:31636385   PMID:31661137   PMID:31712163   PMID:31862304   PMID:31987042  
PMID:32043610   PMID:32111984   PMID:32169452   PMID:32296183   PMID:32301392   PMID:32365055   PMID:32401134   PMID:32441446   PMID:32483426   PMID:32510550   PMID:32630254   PMID:32633026  
PMID:32728028   PMID:32729021   PMID:32737855   PMID:32753472   PMID:32754286   PMID:32771963   PMID:32901858   PMID:33023950   PMID:33132158   PMID:33144099   PMID:33311454   PMID:33340247  
PMID:33367717   PMID:33390847   PMID:33420019   PMID:33478150   PMID:33603171   PMID:33794365   PMID:33799604   PMID:33802627   PMID:33903121   PMID:34026424   PMID:34150617   PMID:34322653  
PMID:34363722   PMID:34382739   PMID:34436724   PMID:34510267   PMID:34510400   PMID:34628696   PMID:34663464   PMID:34738621   PMID:34792282   PMID:34966442   PMID:35145202   PMID:35168462  
PMID:35220872   PMID:35263398   PMID:35271390   PMID:35635715   PMID:35654777   PMID:35681502   PMID:35740931   PMID:35859006  


Genomics

Comparative Map Data
SNAI2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38848,917,598 - 48,921,429 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl848,917,598 - 48,921,740 (-)EnsemblGRCh38hg38GRCh38
GRCh37849,830,157 - 49,833,988 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36849,992,789 - 49,996,541 (-)NCBINCBI36hg18NCBI36
Build 34849,992,795 - 49,996,541NCBI
Celera845,817,447 - 45,821,199 (-)NCBI
Cytogenetic Map8q11.21NCBI
HuRef845,294,292 - 45,298,055 (-)NCBIHuRef
CHM1_1849,882,550 - 49,886,313 (-)NCBICHM1_1
T2T-CHM13v2.0849,295,468 - 49,299,299 (-)NCBI
Snai2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391614,523,716 - 14,527,259 (+)NCBIGRCm39mm39
GRCm39 Ensembl1614,523,716 - 14,527,249 (+)Ensembl
GRCm381614,705,852 - 14,709,395 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1614,705,852 - 14,709,385 (+)EnsemblGRCm38mm10GRCm38
MGSCv371614,705,952 - 14,709,478 (+)NCBIGRCm37mm9NCBIm37
MGSCv361614,619,437 - 14,622,963 (+)NCBImm8
Celera1615,292,698 - 15,296,242 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map1610.07NCBI
Snai2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21186,183,800 - 86,186,109 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1186,181,909 - 86,186,200 (-)Ensembl
Rnor_6.01190,404,421 - 90,406,730 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1190,403,333 - 90,406,797 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01193,462,645 - 93,464,954 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1184,915,524 - 84,917,833 (-)NCBICelera
Cytogenetic Map11q23NCBI
Snai2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554548,758,636 - 8,764,427 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554548,759,860 - 8,763,603 (-)NCBIChiLan1.0ChiLan1.0
SNAI2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1842,727,135 - 42,730,736 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl842,723,971 - 42,730,904 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0845,341,857 - 45,345,544 (-)NCBIMhudiblu_PPA_v0panPan3
SNAI2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1291,154,132 - 1,156,653 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl291,154,036 - 1,156,653 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha291,580,366 - 1,582,888 (-)NCBI
ROS_Cfam_1.0291,209,732 - 1,213,335 (-)NCBI
ROS_Cfam_1.0 Ensembl291,210,224 - 1,213,476 (-)Ensembl
UMICH_Zoey_3.1291,151,831 - 1,154,347 (-)NCBI
UNSW_CanFamBas_1.0291,378,544 - 1,381,065 (-)NCBI
UU_Cfam_GSD_1.0291,416,068 - 1,418,591 (-)NCBI
Snai2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530378,624,121 - 78,627,846 (+)NCBI
SpeTri2.0NW_0049365903,813,916 - 3,817,642 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNAI2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl479,264,880 - 79,268,475 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1479,264,880 - 79,268,475 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2486,680,198 - 86,683,793 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SNAI2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1845,043,381 - 45,047,054 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl845,043,393 - 45,046,978 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603996,972,541 - 96,976,202 (+)NCBIVero_WHO_p1.0
Snai2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247356,594,695 - 6,598,757 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247356,594,564 - 6,598,288 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH102835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37849,830,517 - 49,830,622UniSTSGRCh37
Build 36849,993,070 - 49,993,175RGDNCBI36
Celera845,817,728 - 45,817,833RGD
Cytogenetic Map8q11UniSTS
HuRef845,294,573 - 45,294,678UniSTS
GeneMap99-GB4 RH Map8265.46UniSTS
SHGC-110054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37849,829,756 - 49,830,086UniSTSGRCh37
Build 36849,992,309 - 49,992,639RGDNCBI36
Celera845,816,967 - 45,817,297RGD
Cytogenetic Map8q11UniSTS
HuRef845,293,812 - 45,294,142UniSTS
TNG Radiation Hybrid Map825465.0UniSTS
RH48259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37849,834,375 - 49,834,533UniSTSGRCh37
Build 36849,996,928 - 49,997,086RGDNCBI36
Celera845,821,586 - 45,821,744RGD
Cytogenetic Map8q11UniSTS
HuRef845,298,431 - 45,298,589UniSTS
GeneMap99-GB4 RH Map8263.08UniSTS
NCBI RH Map8699.7UniSTS
SNAI2__6869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37849,830,283 - 49,831,177UniSTSGRCh37
Build 36849,992,836 - 49,993,730RGDNCBI36
Celera845,817,494 - 45,818,388RGD
HuRef845,294,339 - 45,295,233UniSTS
Snai2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37849,831,520 - 49,832,633UniSTSGRCh37
Celera845,818,731 - 45,819,844UniSTS
HuRef845,295,576 - 45,296,689UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoFlow//Immunoblot//Immunofluorescence//Luciferase rFunctional MTI23142026
MIR1-1hsa-miR-1OncomiRDBexternal_infoNANA23142026
MIR1-1hsa-miR-1OncomiRDBexternal_infoNANA22370643
MIR200Bhsa-miR-200b-3pOncomiRDBexternal_infoNANA22370643
MIR124-2hsa-miR-124-3pOncomiRDBexternal_infoNANA23250910
MIR200Ahsa-miR-200a-3pOncomiRDBexternal_infoNANA22370643
MIR203Ahsa-miR-203aMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23354685
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22253443
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22262409
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoImmunoblot//Immunofluorescence//Luciferase reporteFunctional MTI23250910
MIR124-2hsa-miR-124-3pOncomiRDBexternal_infoNANA22253443
MIR203Ahsa-miR-203aOncomiRDBexternal_infoNANA23447531
MIR203Ahsa-miR-203aOncomiRDBexternal_infoNANA23354685
MIR203Ahsa-miR-203aOncomiRDBexternal_infoNANA22393463
MIR200Chsa-miR-200c-3pOncomiRDBexternal_infoNANA22370643
MIR138-1hsa-miR-138-5pMirtarbaseexternal_infoWestern blot;qRT-PCRFunctional MTI21770894
MIR138-1hsa-miR-138-5pTarbaseexternal_infoWesternblitPOSITIVE
MIR630hsa-miR-630Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23434592
MIR138-2hsa-miR-138-5pMirtarbaseexternal_infoWestern blot;qRT-PCRFunctional MTI21770894
MIR138-2hsa-miR-138-5pTarbaseexternal_infoWesternblitPOSITIVE
MIR630hsa-miR-630Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23435373
MIR545hsa-miR-545-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23434592
MIR182hsa-miR-182-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23354685
MIR182hsa-miR-182-5pOncomiRDBexternal_infoNANA23354685
MIR506hsa-miR-506-3pOncomiRDBexternal_infoNANA23410973

Predicted Target Of
Summary Value
Count of predictions:828
Count of miRNA genes:281
Interacting mature miRNAs:300
Transcripts:ENST00000020945, ENST00000396822
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1353 1470 761 248 392 94 3318 679 829 191 975 1140 165 1186 1933 1
Low 997 776 945 366 215 360 1027 1503 2435 221 444 426 6 18 850 2 2
Below cutoff 44 540 13 9 641 10 11 10 449 7 29 26 2 5 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000020945   ⟹   ENSP00000020945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl848,917,598 - 48,921,429 (-)Ensembl
RefSeq Acc Id: ENST00000396822   ⟹   ENSP00000380034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl848,920,253 - 48,921,740 (-)Ensembl
RefSeq Acc Id: ENST00000649776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl848,917,868 - 48,921,440 (-)Ensembl
RefSeq Acc Id: NM_003068   ⟹   NP_003059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38848,917,598 - 48,921,429 (-)NCBI
GRCh37849,830,236 - 49,833,999 (-)ENTREZGENE
Build 36849,992,789 - 49,996,541 (-)NCBI Archive
HuRef845,294,292 - 45,298,055 (-)ENTREZGENE
CHM1_1849,882,550 - 49,886,313 (-)NCBI
T2T-CHM13v2.0849,295,468 - 49,299,299 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003059   ⟸   NM_003068
- UniProtKB: Q53FC1 (UniProtKB/Swiss-Prot),   O43623 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000020945   ⟸   ENST00000020945
RefSeq Acc Id: ENSP00000380034   ⟸   ENST00000396822

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43623-F1-model_v2 AlphaFold O43623 1-268 view protein structure

Promoters
RGD ID:7213265
Promoter ID:EPDNEW_H12378
Type:initiation region
Name:SNAI2_1
Description:snail family transcriptional repressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12379  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38848,921,429 - 48,921,489EPDNEW
RGD ID:7213267
Promoter ID:EPDNEW_H12379
Type:initiation region
Name:SNAI2_2
Description:snail family transcriptional repressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12378  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38848,922,024 - 48,922,084EPDNEW
RGD ID:6806632
Promoter ID:HG_KWN:61266
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000396822,   NM_003068
Position:
Human AssemblyChrPosition (strand)Source
Build 36849,996,221 - 49,996,721 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_012130.1:g.(?_5165)_(7623_?)del deletion Waardenburg syndrome type 2D [RCV000007932] Chr8:48918807..48921265 [GRCh38]
Chr8:49831366..49833824 [GRCh37]
Chr8:8q11.21
pathogenic
NG_012130.1:g.(?_5165)_(7623_?)del deletion Partial albinism [RCV000007933] Chr8:48918807..48921265 [GRCh38]
Chr8:49831366..49833824 [GRCh37]
Chr8:8q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 copy number gain See cases [RCV000053649] Chr8:39830633..49209461 [GRCh38]
Chr8:39688152..50122020 [GRCh37]
Chr8:39807309..50284573 [NCBI36]
Chr8:8p11.22-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3 copy number gain See cases [RCV000141920] Chr8:47338394..52753188 [GRCh38]
Chr8:48250960..53665748 [GRCh37]
Chr8:48413513..53828301 [NCBI36]
Chr8:8q11.21-11.23
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_003068.5(SNAI2):c.228T>G (p.Leu76=) single nucleotide variant not provided [RCV000915410] Chr8:48920293 [GRCh38]
Chr8:49832852 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.-36T>A single nucleotide variant Partial albinism [RCV000267513] Chr8:48921301 [GRCh38]
Chr8:49833860 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*149C>A single nucleotide variant Partial albinism [RCV000376303] Chr8:48918658 [GRCh38]
Chr8:49831217 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_003068.5(SNAI2):c.*26C>T single nucleotide variant Partial albinism [RCV000381494] Chr8:48918781 [GRCh38]
Chr8:49831340 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.-77C>A single nucleotide variant Partial albinism [RCV000381949] Chr8:48921342 [GRCh38]
Chr8:49833901 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.257T>C (p.Val86Ala) single nucleotide variant Partial albinism [RCV000350118] Chr8:48920264 [GRCh38]
Chr8:49832823 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.-82C>A single nucleotide variant Partial albinism [RCV000385458] Chr8:48921347 [GRCh38]
Chr8:49833906 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_003068.5(SNAI2):c.606A>G (p.Gly202=) single nucleotide variant Partial albinism [RCV000397450]|not provided [RCV000902509]|not specified [RCV000825241] Chr8:48919915 [GRCh38]
Chr8:49832474 [GRCh37]
Chr8:8q11.21
benign|likely benign|uncertain significance
NM_003068.5(SNAI2):c.-102C>A single nucleotide variant Partial albinism [RCV000293671] Chr8:48921367 [GRCh38]
Chr8:49833926 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_003068.5(SNAI2):c.*334T>G single nucleotide variant Partial albinism [RCV000261701] Chr8:48918473 [GRCh38]
Chr8:49831032 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.219C>T (p.Leu73=) single nucleotide variant Partial albinism [RCV000314839] Chr8:48920302 [GRCh38]
Chr8:49832861 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*340T>G single nucleotide variant Partial albinism [RCV000356452] Chr8:48918467 [GRCh38]
Chr8:49831026 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.-9G>T single nucleotide variant Partial albinism [RCV000356920] Chr8:48921274 [GRCh38]
Chr8:49833833 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*773C>A single nucleotide variant Partial albinism [RCV000260378] Chr8:48918034 [GRCh38]
Chr8:49830593 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_003068.5(SNAI2):c.-13A>T single nucleotide variant Partial albinism [RCV000303169] Chr8:48921278 [GRCh38]
Chr8:49833837 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.130C>A (p.Gln44Lys) single nucleotide variant Partial albinism [RCV000299485] Chr8:48920391 [GRCh38]
Chr8:49832950 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.729C>T (p.Cys243=) single nucleotide variant Partial albinism [RCV000289352] Chr8:48918885 [GRCh38]
Chr8:49831444 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*964G>A single nucleotide variant Partial albinism [RCV000400858] Chr8:48917843 [GRCh38]
Chr8:49830402 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8q11.1-11.21(chr8:46912309-50818801)x3 copy number gain See cases [RCV000447547] Chr8:46912309..50818801 [GRCh37]
Chr8:8q11.1-11.21
uncertain significance
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003068.5(SNAI2):c.-17C>T single nucleotide variant not specified [RCV000616523] Chr8:48921282 [GRCh38]
Chr8:49833841 [GRCh37]
Chr8:8q11.21
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3 copy number gain not provided [RCV000683033] Chr8:46863521..55218838 [GRCh37]
Chr8:8q11.1-11.23
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q11.21(chr8:49252776-49845568)x3 copy number gain not provided [RCV000747538] Chr8:49252776..49845568 [GRCh37]
Chr8:8q11.21
benign
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1
pathogenic
NM_003068.5(SNAI2):c.571G>A (p.Gly191Ser) single nucleotide variant not specified [RCV000825456] Chr8:48919950 [GRCh38]
Chr8:49832509 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.93G>A (p.Pro31=) single nucleotide variant not provided [RCV000841017] Chr8:48920428 [GRCh38]
Chr8:49832987 [GRCh37]
Chr8:8q11.21
likely benign
NC_000008.10:g.(?_48270390)_(49987806_?)del deletion not provided [RCV000819887] Chr8:48270390..49987806 [GRCh37]
Chr8:8q11.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3
pathogenic
NM_003068.5(SNAI2):c.146G>A (p.Ser49Asn) single nucleotide variant not provided [RCV000959027] Chr8:48920375 [GRCh38]
Chr8:49832934 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.105G>C (p.Glu35Asp) single nucleotide variant Partial albinism [RCV001163016] Chr8:48920416 [GRCh38]
Chr8:49832975 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.341A>C (p.Gln114Pro) single nucleotide variant not provided [RCV000993035] Chr8:48920180 [GRCh38]
Chr8:49832739 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*1026G>A single nucleotide variant Partial albinism [RCV001164992] Chr8:48917781 [GRCh38]
Chr8:49830340 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*919T>C single nucleotide variant Partial albinism [RCV001160079] Chr8:48917888 [GRCh38]
Chr8:49830447 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*429G>A single nucleotide variant Partial albinism [RCV001160081] Chr8:48918378 [GRCh38]
Chr8:49830937 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.365C>T (p.Ala122Val) single nucleotide variant Partial albinism [RCV001161495]|not provided [RCV000879229]|not specified [RCV001195555] Chr8:48920156 [GRCh38]
Chr8:49832715 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_003068.5(SNAI2):c.198C>T (p.His66=) single nucleotide variant not provided [RCV000979250] Chr8:48920323 [GRCh38]
Chr8:49832882 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.*1111G>T single nucleotide variant Partial albinism [RCV001164991] Chr8:48917696 [GRCh38]
Chr8:49830255 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*428C>T single nucleotide variant Partial albinism [RCV001160082] Chr8:48918379 [GRCh38]
Chr8:49830938 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.261T>C (p.Ser87=) single nucleotide variant not provided [RCV000889220] Chr8:48920260 [GRCh38]
Chr8:49832819 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.*46C>T single nucleotide variant Partial albinism [RCV001161494] Chr8:48918761 [GRCh38]
Chr8:49831320 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.281C>T (p.Thr94Ile) single nucleotide variant Partial albinism [RCV001161496] Chr8:48920240 [GRCh38]
Chr8:49832799 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*512T>C single nucleotide variant Partial albinism [RCV001160080] Chr8:48918295 [GRCh38]
Chr8:49830854 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*129G>T single nucleotide variant Partial albinism [RCV001161493] Chr8:48918678 [GRCh38]
Chr8:49831237 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.625+206T>C single nucleotide variant not provided [RCV001611247] Chr8:48919690 [GRCh38]
Chr8:49832249 [GRCh37]
Chr8:8q11.21
benign
NM_003068.5(SNAI2):c.80-277C>T single nucleotide variant not provided [RCV001709878] Chr8:48920718 [GRCh38]
Chr8:49833277 [GRCh37]
Chr8:8q11.21
benign
NM_003068.5(SNAI2):c.-40C>G single nucleotide variant Partial albinism [RCV001165102] Chr8:48921305 [GRCh38]
Chr8:49833864 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.-163G>A single nucleotide variant Partial albinism [RCV001165103] Chr8:48921428 [GRCh38]
Chr8:49833987 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.*420C>A single nucleotide variant Partial albinism [RCV001160083] Chr8:48918387 [GRCh38]
Chr8:49830946 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8q11.1-11.21(chr8:46912309-50818801) copy number gain not specified [RCV002053761] Chr8:46912309..50818801 [GRCh37]
Chr8:8q11.1-11.21
uncertain significance
NM_003068.5(SNAI2):c.440A>G (p.Lys147Arg) single nucleotide variant not provided [RCV001926385] Chr8:48920081 [GRCh38]
Chr8:49832640 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.35A>G (p.Asn12Ser) single nucleotide variant not provided [RCV001983811] Chr8:48921231 [GRCh38]
Chr8:49833790 [GRCh37]
Chr8:8q11.21
uncertain significance
NC_000008.10:g.(?_48686734)_(49833824_?)dup duplication Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001997267]|not provided [RCV002004460] Chr8:48686734..49833824 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.725A>G (p.Gln242Arg) single nucleotide variant not provided [RCV001932512] Chr8:48918889 [GRCh38]
Chr8:49831448 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.349C>T (p.Leu117Phe) single nucleotide variant not provided [RCV002012960] Chr8:48920172 [GRCh38]
Chr8:49832731 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.231C>T (p.Ser77=) single nucleotide variant not provided [RCV002085423] Chr8:48920290 [GRCh38]
Chr8:49832849 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.264C>T (p.Pro88=) single nucleotide variant not provided [RCV002209145] Chr8:48920257 [GRCh38]
Chr8:49832816 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.48G>A (p.Lys16=) single nucleotide variant not provided [RCV002110964] Chr8:48921218 [GRCh38]
Chr8:49833777 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.21C>T (p.Val7=) single nucleotide variant not provided [RCV002192347] Chr8:48921245 [GRCh38]
Chr8:49833804 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.606A>T (p.Gly202=) single nucleotide variant not provided [RCV002219153] Chr8:48919915 [GRCh38]
Chr8:49832474 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.201C>T (p.Ala67=) single nucleotide variant not provided [RCV002117658] Chr8:48920320 [GRCh38]
Chr8:49832879 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.364G>A (p.Ala122Thr) single nucleotide variant not specified [RCV002246844] Chr8:48920157 [GRCh38]
Chr8:49832716 [GRCh37]
Chr8:8q11.21
benign
NM_003068.5(SNAI2):c.589C>T (p.Pro197Ser) single nucleotide variant not provided [RCV002263480] Chr8:48919932 [GRCh38]
Chr8:49832491 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_003068.5(SNAI2):c.230C>G (p.Ser77Cys) single nucleotide variant not provided [RCV001755389] Chr8:48920291 [GRCh38]
Chr8:49832850 [GRCh37]
Chr8:8q11.21
likely benign
NM_003068.5(SNAI2):c.237C>T (p.Tyr79=) single nucleotide variant Partial albinism [RCV001163015] Chr8:48920284 [GRCh38]
Chr8:49832843 [GRCh37]
Chr8:8q11.21
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11094 AgrOrtholog
COSMIC SNAI2 COSMIC
Ensembl Genes ENSG00000019549 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000020945 ENTREZGENE
  ENSP00000020945.1 UniProtKB/Swiss-Prot
  ENSP00000380034.2 UniProtKB/TrEMBL
Ensembl Transcript ENST00000020945 ENTREZGENE
  ENST00000020945.4 UniProtKB/Swiss-Prot
  ENST00000396822.6 UniProtKB/TrEMBL
GTEx ENSG00000019549 GTEx
HGNC ID HGNC:11094 ENTREZGENE
Human Proteome Map SNAI2 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:6591 UniProtKB/Swiss-Prot
NCBI Gene 6591 ENTREZGENE
OMIM 172800 OMIM
  602150 OMIM
  608890 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA35945 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt A0A1X7SC17_HUMAN UniProtKB/TrEMBL
  O43623 ENTREZGENE
  Q53FC1 ENTREZGENE
  SNAI2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R6P6 UniProtKB/Swiss-Prot
  Q53FC1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 SNAI2  snail family transcriptional repressor 2  SNAI2  snail family zinc finger 2  Symbol and/or name change 5135510 APPROVED
2013-06-04 SNAI2  snail family zinc finger 2  SNAI2  snail homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED