SOX2 (SRY-box transcription factor 2) - Rat Genome Database

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Gene: SOX2 (SRY-box transcription factor 2) Homo sapiens
Analyze
Symbol: SOX2
Name: SRY-box transcription factor 2
RGD ID: 1344695
HGNC Page HGNC
Description: Enables DNA-binding transcription factor activity; miRNA binding activity; and transcription cis-regulatory region binding activity. Involved in several processes, including osteoblast differentiation; regulation of signal transduction; and sensory organ development. Acts upstream of or within endodermal cell fate specification and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Implicated in breast cancer; nasal cavity cancer; and syndromic microphthalmia 3. Biomarker of breast cancer; melanoma; squamous cell carcinoma; tongue squamous cell carcinoma; and transitional cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ANOP3; MCOPS3; MGC2413; sex determining region Y-box 2; SRY (sex determining region Y)-box 2; SRY box 2; SRY-box 2; SRY-related HMG-box gene 2; transcription factor SOX-2; transcription factor SOX2
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
GRCh38.p13 Ensembl3181,711,925 - 181,714,436 (+)EnsemblGRCh38hg38GRCh38
GRCh383181,711,925 - 181,714,436 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373181,429,713 - 181,432,224 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363182,912,416 - 182,914,918 (+)NCBINCBI36hg18NCBI36
Build 343182,912,423 - 182,914,923NCBI
Celera3179,863,407 - 179,865,909 (+)NCBI
Cytogenetic Map3q26.33NCBI
HuRef3178,834,536 - 178,837,048 (+)NCBIHuRef
CHM1_13181,392,587 - 181,395,099 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-ginsenoside Rg3  (EXP)
(R)-pantothenic acid  (EXP)
(S)-naringenin  (EXP)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methyladenine  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-azacytidine  (ISO)
5-fluorouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antirheumatic drug  (EXP)
apigenin  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bromochloroacetic acid  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
cadmium sulfate  (ISO)
carbofuran  (ISO)
carbon atom  (EXP)
carbon nanotube  (ISO)
carboplatin  (EXP)
carvedilol  (ISO)
celecoxib  (EXP)
CHIR 99021  (EXP)
chloroprene  (ISO)
chlorpromazine  (EXP)
chromium(6+)  (ISO)
chrysene  (ISO)
ciprofloxacin  (EXP)
cisplatin  (EXP)
Citreoviridin  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
crystal violet  (EXP)
curcumin  (ISO)
decabromodiphenyl ether  (EXP,ISO)
deoxycholic acid  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
eckol  (EXP)
elemental carbon  (EXP)
ethanol  (ISO)
etodolac  (EXP)
fluoxetine  (ISO)
flurbiprofen  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
gemcitabine  (EXP)
genistein  (EXP)
glycerol 2-phosphate  (ISO)
hexachlorophene  (ISO)
hydroquinone  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP,ISO)
lapatinib  (EXP)
lead diacetate  (ISO)
lupeol  (ISO)
LY294002  (ISO)
mercury dibromide  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
miconazole  (ISO)
naphthalene  (ISO)
nickel dichloride  (EXP)
Nonylphenol  (ISO)
ochratoxin A  (ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
poly(I:C)  (EXP)
prostaglandin E2  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sirolimus  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
Tanshinone I  (ISO)
taurocholic acid  (ISO)
temozolomide  (EXP)
terbufos  (EXP)
Tetrachlorobisphenol A  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (ISO)
Triptolide  (EXP)
Tungsten carbide  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vanadyl sulfate  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenohypophysis development  (IEA,ISO)
anatomical structure formation involved in morphogenesis  (ISO)
anatomical structure morphogenesis  (IBA)
cell differentiation  (IBA)
cell fate commitment  (IBA,ISO)
cell fate specification  (ISO)
cellular response to cadmium ion  (ISO)
cerebral cortex development  (ISO)
chromatin organization  (NAS)
detection of mechanical stimulus involved in equilibrioception  (ISO)
detection of mechanical stimulus involved in sensory perception of sound  (ISO)
diencephalon morphogenesis  (ISO)
embryonic organ development  (ISO)
endodermal cell fate specification  (IDA)
epithelial tube branching involved in lung morphogenesis  (ISO)
eye development  (IEP)
forebrain development  (IBA,IEP)
forebrain neuron differentiation  (ISO)
glial cell fate commitment  (NAS)
inner ear development  (IBA,IEP)
inner ear morphogenesis  (ISO)
lens induction in camera-type eye  (ISO)
lung alveolus development  (ISO)
male genitalia development  (ISO)
negative regulation of canonical Wnt signaling pathway  (IDA)
negative regulation of cell differentiation  (ISO)
negative regulation of epithelial cell proliferation  (IDA)
negative regulation of neuron differentiation  (ISO,ISS)
negative regulation of osteoblast differentiation  (ISO)
negative regulation of transcription by RNA polymerase II  (IBA,ISO,ISS)
negative regulation of Wnt signaling pathway  (ISO)
neuron fate commitment  (ISO)
neuronal stem cell population maintenance  (ISS)
olfactory placode formation  (ISO)
osteoblast differentiation  (IDA)
pigment biosynthetic process  (ISO)
pituitary gland development  (IEP)
positive regulation of cell differentiation  (IEA,ISO)
positive regulation of cell-cell adhesion  (IEA,ISO)
positive regulation of epithelial cell differentiation  (ISO)
positive regulation of MAPK cascade  (IDA)
positive regulation of neuroblast proliferation  (ISO)
positive regulation of neuron differentiation  (ISO)
positive regulation of Notch signaling pathway  (ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA)
positive regulation of transcription, DNA-templated  (IDA)
regulation of cell cycle  (IDA)
regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IDA)
regulation of gene expression  (IMP)
regulation of neurogenesis  (ISO)
regulation of transcription by RNA polymerase II  (ISO)
regulation of transcription, DNA-templated  (IBA,IDA,ISO,NAS)
response to growth factor  (IDA)
response to organic substance  (ISO)
response to retinoic acid  (ISO)
response to wounding  (IEP)
retina morphogenesis in camera-type eye  (ISO)
sensory perception of sound  (ISO)
somatic stem cell population maintenance  (IDA,IMP)
stem cell differentiation  (ISO)
stem cell population maintenance  (ISO)
tissue regeneration  (IEA,ISO)
tongue development  (ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (IDA)
cytosol  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IC,IDA,ISO,NAS)
transcription regulator complex  (TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
11 pairs of ribs  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the nasal cavity  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aniridia  (IAGP)
Anophthalmia  (IAGP)
Anosmia  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Butterfly vertebrae  (IAGP)
Cleft palate  (IAGP)
Coloboma  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Diabetes insipidus  (IAGP)
Dry skin  (IAGP)
Esophageal atresia  (IAGP)
Fatigue  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hemivertebrae  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Hypothalamic hamartoma  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Maternal diabetes  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Missing ribs  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Optic nerve hypoplasia  (IAGP)
Patent ductus arteriosus  (IAGP)
Polydipsia  (IAGP)
Postnatal growth retardation  (IAGP)
Rib fusion  (IAGP)
Sclerocornea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Septo-optic dysplasia  (IAGP)
Short stature  (IAGP)
Sleep disturbance  (IAGP)
Spastic diplegia  (IAGP)
Spastic tetraplegia  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Supernumerary ribs  (IAGP)
Tracheoesophageal fistula  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral fusion  (IAGP)
Vertebral hypoplasia  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
References

References - curated
1. Aktug H, etal., Adv Clin Exp Med. 2013 May-Jun;22(3):327-35.
2. Brustmann H and Brunner A, Int J Gynecol Pathol. 2013 May;32(3):323-8. doi: 10.1097/PGP.0b013e31825d820e.
3. Du L, etal., Oral Oncol. 2011 Aug;47(8):709-13. doi: 10.1016/j.oraloncology.2011.05.017.
4. Fantes J, etal., Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3.
5. GOA_HUMAN data from the GO Consortium
6. Huang YH, etal., Histopathology. 2014 Mar;64(4):494-503. doi: 10.1111/his.12257. Epub 2013 Nov 28.
7. Kitamura H, etal., Mod Pathol. 2013 Jan;26(1):117-24. doi: 10.1038/modpathol.2012.139. Epub 2012 Aug 17.
8. Laga AC, etal., Exp Dermatol. 2011 Apr;20(4):339-45. doi: 10.1111/j.1600-0625.2011.01247.x.
9. Lee HJ, etal., J Neurosci Res. 2013 Feb;91(2):196-210. doi: 10.1002/jnr.23151. Epub 2012 Nov 21.
10. Leis O, etal., Oncogene. 2012 Mar 15;31(11):1354-65. doi: 10.1038/onc.2011.338. Epub 2011 Aug 8.
11. Mihelec M, etal., Eur J Hum Genet. 2009 Nov;17(11):1417-22. doi: 10.1038/ejhg.2009.79. Epub 2009 May 27.
12. OMIM Disease Annotation Pipeline
13. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. RGD automated import pipeline for gene-chemical interactions
15. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Schneider A, etal., Am J Med Genet A. 2009 Dec;149A(12):2706-15. doi: 10.1002/ajmg.a.33098.
17. Schrock A, etal., PLoS One. 2013;8(3):e59201. doi: 10.1371/journal.pone.0059201. Epub 2013 Mar 27.
18. Stolzenburg S, etal., Nucleic Acids Res. 2012 Aug;40(14):6725-40. Epub 2012 May 4.
19. Sun Y, etal., Cancer Epidemiol Biomarkers Prev. 2012 Nov;21(11):2043-7. doi: 10.1158/1055-9965.EPI-12-0498. Epub 2012 Jul 25.
Additional References at PubMed
PMID:7590241   PMID:7849401   PMID:8889548   PMID:10089404   PMID:10729834   PMID:10760287   PMID:10801796   PMID:11358870   PMID:12194848   PMID:12477932   PMID:12637543   PMID:12710953  
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PMID:16344560   PMID:16543359   PMID:16552336   PMID:16596179   PMID:16712695   PMID:16932809   PMID:17097055   PMID:17136346   PMID:17219395   PMID:17291498   PMID:17334350   PMID:17389240  
PMID:17464316   PMID:17506876   PMID:17522144   PMID:17587179   PMID:17898260   PMID:17982423   PMID:18000303   PMID:18027866   PMID:18039390   PMID:18157115   PMID:18162777   PMID:18187129  
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PMID:21931300   PMID:21940738   PMID:21947321   PMID:21951286   PMID:21962512   PMID:22014056   PMID:22015605   PMID:22046437   PMID:22069467   PMID:22070920   PMID:22171155   PMID:22184093  
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PMID:22899289   PMID:22912670   PMID:22937156   PMID:22941189   PMID:22945632   PMID:23005595   PMID:23009336   PMID:23060440   PMID:23086772   PMID:23111103   PMID:23135265   PMID:23159246  
PMID:23211052   PMID:23213213   PMID:23279472   PMID:23301671   PMID:23307254   PMID:23326489   PMID:23336432   PMID:23349823   PMID:23362975   PMID:23414798   PMID:23424657   PMID:23430442  
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PMID:27473118   PMID:27489349   PMID:27492892   PMID:27530866   PMID:27600094   PMID:27634934   PMID:27650955   PMID:27705752   PMID:27728803   PMID:27766003   PMID:27784708   PMID:27816521  
PMID:27821172   PMID:27862890   PMID:27878280   PMID:27880766   PMID:27913994   PMID:27920086   PMID:27996177   PMID:28002801   PMID:28017655   PMID:28046028   PMID:28059768   PMID:28059963  
PMID:28103766   PMID:28106103   PMID:28121235   PMID:28129648   PMID:28151013   PMID:28165651   PMID:28182001   PMID:28188685   PMID:28199128   PMID:28212747   PMID:28244015   PMID:28253866  
PMID:28259951   PMID:28288641   PMID:28319578   PMID:28339084   PMID:28368402   PMID:28368416   PMID:28373426   PMID:28438862   PMID:28465359   PMID:28475175   PMID:28480968   PMID:28504716  
PMID:28514442   PMID:28535666   PMID:28620836   PMID:28623666   PMID:28635421   PMID:28642874   PMID:28674712   PMID:28700423   PMID:28718379   PMID:28733588   PMID:28737489   PMID:28749077  
PMID:28793245   PMID:28794006   PMID:28813671   PMID:28842747   PMID:28862264   PMID:28867247   PMID:28882595   PMID:28905448   PMID:28933914   PMID:28946143   PMID:28960757   PMID:28991227  
PMID:29039570   PMID:29050852   PMID:29059156   PMID:29091765   PMID:29143365   PMID:29158570   PMID:29180467   PMID:29214774   PMID:29253717   PMID:29316077   PMID:29335337   PMID:29358331  
PMID:29383478   PMID:29396848   PMID:29409014   PMID:29452418   PMID:29463902   PMID:29536377   PMID:29556337   PMID:29569698   PMID:29574045   PMID:29587142   PMID:29596469   PMID:29619662  
PMID:29741610   PMID:29769207   PMID:29773426   PMID:29802821   PMID:29905375   PMID:29938872   PMID:29950413   PMID:29955125   PMID:29958837   PMID:30053878   PMID:30055542   PMID:30089852  
PMID:30127402   PMID:30190462   PMID:30244869   PMID:30248046   PMID:30262714   PMID:30270540   PMID:30272330   PMID:30297536   PMID:30315105   PMID:30382189   PMID:30397178   PMID:30403311  
PMID:30405104   PMID:30442713   PMID:30443959   PMID:30453543   PMID:30466459   PMID:30487219   PMID:30510261   PMID:30518951   PMID:30523789   PMID:30527240   PMID:30548157   PMID:30574744  
PMID:30587555   PMID:30587606   PMID:30606720   PMID:30622340   PMID:30628031   PMID:30674935   PMID:30694767   PMID:30712195   PMID:30713093   PMID:30806068   PMID:30867047   PMID:30891497  
PMID:30894683   PMID:30904337   PMID:30980849   PMID:30999923   PMID:31037832   PMID:31059077   PMID:31077711   PMID:31097100   PMID:31113740   PMID:31173263   PMID:31179504   PMID:31209059  
PMID:31230592   PMID:31232700   PMID:31257482   PMID:31281487   PMID:31281582   PMID:31284949   PMID:31288577   PMID:31344986   PMID:31365524   PMID:31399556   PMID:31462898   PMID:31477842  
PMID:31484078   PMID:31485767   PMID:31515488   PMID:31527246   PMID:31529309   PMID:31534165   PMID:31540269   PMID:31548378   PMID:31551362   PMID:31560173   PMID:31583686   PMID:31587305  
PMID:31590919   PMID:31605775   PMID:31610800   PMID:31623830   PMID:31635802   PMID:31646828   PMID:31693489   PMID:31718604   PMID:31772313   PMID:31823521   PMID:31844113   PMID:31883360  
PMID:31894290   PMID:31919137   PMID:31922212   PMID:31927035   PMID:31943174   PMID:31956038   PMID:31968252   PMID:32003010   PMID:32019566   PMID:32029747   PMID:32033067   PMID:32037877  
PMID:32055838   PMID:32092088   PMID:32122144   PMID:32130794   PMID:32144236   PMID:32170113   PMID:32191225   PMID:32221082   PMID:32234828   PMID:32290242   PMID:32319565   PMID:32350470  
PMID:32427884   PMID:32483123   PMID:32492707   PMID:32507767   PMID:32575737   PMID:32576581   PMID:32619460   PMID:32664542   PMID:32674684   PMID:32703490   PMID:32721391   PMID:32727778  
PMID:32778600   PMID:32801334   PMID:32812642   PMID:32816907   PMID:32865703   PMID:32894547   PMID:32896567   PMID:32930122   PMID:32954681   PMID:32971057   PMID:32998722   PMID:33058834  
PMID:33103210   PMID:33127342   PMID:33203881   PMID:33207226   PMID:33510132   PMID:33789601   PMID:33924599   PMID:34083275  


Genomics

Comparative Map Data
SOX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3181,711,925 - 181,714,436 (+)EnsemblGRCh38hg38GRCh38
GRCh383181,711,925 - 181,714,436 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373181,429,713 - 181,432,224 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363182,912,416 - 182,914,918 (+)NCBINCBI36hg18NCBI36
Build 343182,912,423 - 182,914,923NCBI
Celera3179,863,407 - 179,865,909 (+)NCBI
Cytogenetic Map3q26.33NCBI
HuRef3178,834,536 - 178,837,048 (+)NCBIHuRef
CHM1_13181,392,587 - 181,395,099 (+)NCBICHM1_1
Sox2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39334,704,144 - 34,706,610 (+)NCBIGRCm39mm39
GRCm39 Ensembl334,704,554 - 34,706,610 (+)Ensembl
GRCm38334,649,995 - 34,652,461 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl334,650,405 - 34,652,461 (+)EnsemblGRCm38mm10GRCm38
MGSCv37334,548,927 - 34,551,383 (+)NCBIGRCm37mm9NCBIm37
MGSCv36334,841,604 - 34,844,008 (+)NCBImm8
Celera334,551,711 - 34,554,169 (+)NCBICelera
Cytogenetic Map3A3NCBI
cM Map316.93NCBI
Sox2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22117,536,929 - 117,539,338 (+)NCBI
Rnor_6.0 Ensembl2121,165,137 - 121,167,545 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02121,165,137 - 121,167,545 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02140,810,593 - 140,813,001 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42120,969,021 - 120,971,430 (+)NCBIRGSC3.4rn4RGSC3.4
Celera2112,569,723 - 112,572,132 (+)NCBICelera
Cytogenetic Map2q24NCBI
Sox2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542010,671,978 - 10,672,934 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542010,671,888 - 10,674,080 (+)NCBIChiLan1.0ChiLan1.0
SOX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13186,922,223 - 186,924,785 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3186,922,705 - 186,923,662 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03178,744,881 - 178,747,392 (+)NCBIMhudiblu_PPA_v0panPan3
SOX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13414,853,000 - 14,855,153 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3418,934,171 - 18,936,303 (+)NCBI
ROS_Cfam_1.03414,755,806 - 14,757,946 (+)NCBI
UMICH_Zoey_3.13414,797,347 - 14,799,478 (+)NCBI
UNSW_CanFamBas_1.03414,782,119 - 14,784,242 (+)NCBI
UU_Cfam_GSD_1.03415,026,650 - 15,028,779 (+)NCBI
Sox2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602111,588,129 - 111,590,044 (+)NCBI
SpeTri2.0NW_0049365661,630,698 - 1,632,607 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113119,668,476 - 119,669,435 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213128,979,657 - 128,980,616 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap13q23-q41NCBI
SOX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1157,673,581 - 7,676,812 (-)NCBI
ChlSab1.1 Ensembl157,674,867 - 7,675,826 (-)Ensembl
Vero_WHO_p1.0NW_02366606316,496,978 - 16,500,141 (-)NCBI
Sox2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473059,570,879 - 59,573,001 (+)NCBI

Position Markers
RH66812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,313,904 - 125,314,080UniSTSGRCh37
GRCh373181,430,955 - 181,431,132UniSTSGRCh37
Build 363182,913,649 - 182,913,826RGDNCBI36
Celera8121,501,994 - 121,502,170UniSTS
Celera3179,864,640 - 179,864,817RGD
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map3q26.3-q27UniSTS
HuRef8120,640,808 - 120,640,984UniSTS
HuRef3178,835,779 - 178,835,956UniSTS
UniSTS:474706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373181,430,653 - 181,430,783UniSTSGRCh37
GRCh378125,313,649 - 125,313,779UniSTSGRCh37
Build 363182,913,347 - 182,913,477RGDNCBI36
Celera3179,864,338 - 179,864,468RGD
Celera8121,501,739 - 121,501,869UniSTS
HuRef8120,640,553 - 120,640,683UniSTS
HuRef3178,835,477 - 178,835,607UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR128-1hsa-miR-128-3pMirtarbaseexternal_infoReporter assayNon-Functional MTI19409607
MIR126hsa-miR-126-3pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//MFunctional MTI21304604
MIR126hsa-miR-126-3pOncomiRDBexternal_infoNANA21304604
MIR429hsa-miR-429Mirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23111103
MIR429hsa-miR-429OncomiRDBexternal_infoNANA23111103
MIR140hsa-miR-140-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23060440
MIR140hsa-miR-140-3pOncomiRDBexternal_infoNANA23060440
MIR522hsa-miR-522-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotNon-Functional MTI21304604
MIR145hsa-miR-145-5pMirtarbaseexternal_infoFACS//Flow//GFP reporter assay//In situ hybridizatFunctional MTI19409607
MIR145hsa-miR-145-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23541921
MIR145hsa-miR-145-5pTarbaseexternal_infoWesternblitNEGATIVE
MIR9-2hsa-miR-9-3pOncomiRDBexternal_infoNANA21531766

Predicted Target Of
Summary Value
Count of predictions:634
Count of miRNA genes:385
Interacting mature miRNAs:419
Transcripts:ENST00000325404, ENST00000431565
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4 4
Medium 380 8 170 162 41 6 827 46 3476 15 150 192 160 3 612
Low 1864 679 308 40 221 34 1661 934 219 69 972 465 13 1 345 844 1 1
Below cutoff 131 1903 1055 271 838 274 1719 1101 21 177 276 871 2 825 1216

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC117415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW016610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW163619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF305585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM668019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM722297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN430685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA388996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JD597980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ231229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR091847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR091848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000325404   ⟹   ENSP00000323588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3181,711,925 - 181,714,436 (+)Ensembl
RefSeq Acc Id: NM_003106   ⟹   NP_003097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383181,711,925 - 181,714,436 (+)NCBI
GRCh373181,429,712 - 181,432,224 (+)ENTREZGENE
Build 363182,912,416 - 182,914,918 (+)NCBI Archive
HuRef3178,834,536 - 178,837,048 (+)ENTREZGENE
CHM1_13181,392,587 - 181,395,099 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_003097 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35997 (Get FASTA)   NCBI Sequence Viewer  
  AAH13923 (Get FASTA)   NCBI Sequence Viewer  
  AJF45876 (Get FASTA)   NCBI Sequence Viewer  
  AJF45877 (Get FASTA)   NCBI Sequence Viewer  
  AJF45878 (Get FASTA)   NCBI Sequence Viewer  
  AJF45879 (Get FASTA)   NCBI Sequence Viewer  
  AJF45880 (Get FASTA)   NCBI Sequence Viewer  
  AJF45899 (Get FASTA)   NCBI Sequence Viewer  
  AJF45900 (Get FASTA)   NCBI Sequence Viewer  
  AJF45901 (Get FASTA)   NCBI Sequence Viewer  
  AJF45902 (Get FASTA)   NCBI Sequence Viewer  
  AJF45903 (Get FASTA)   NCBI Sequence Viewer  
  AJF45904 (Get FASTA)   NCBI Sequence Viewer  
  AJF45905 (Get FASTA)   NCBI Sequence Viewer  
  AJF45906 (Get FASTA)   NCBI Sequence Viewer  
  AJF45907 (Get FASTA)   NCBI Sequence Viewer  
  AJF45908 (Get FASTA)   NCBI Sequence Viewer  
  AJF45909 (Get FASTA)   NCBI Sequence Viewer  
  AJF45910 (Get FASTA)   NCBI Sequence Viewer  
  AJF45911 (Get FASTA)   NCBI Sequence Viewer  
  AJF45912 (Get FASTA)   NCBI Sequence Viewer  
  ALU11228 (Get FASTA)   NCBI Sequence Viewer  
  ALU11229 (Get FASTA)   NCBI Sequence Viewer  
  AMM45339 (Get FASTA)   NCBI Sequence Viewer  
  AMM45340 (Get FASTA)   NCBI Sequence Viewer  
  BAG35487 (Get FASTA)   NCBI Sequence Viewer  
  CAA83435 (Get FASTA)   NCBI Sequence Viewer  
  CRL66395 (Get FASTA)   NCBI Sequence Viewer  
  EAW78354 (Get FASTA)   NCBI Sequence Viewer  
  P48431 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003097   ⟸   NM_003106
- UniProtKB: P48431 (UniProtKB/Swiss-Prot),   A0A0U3FYV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000323588   ⟸   ENST00000325404
Protein Domains
HMG box


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003106.4(SOX2):c.143_144delinsAA (p.Phe48Ter) indel Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000033025] Chr3:181712503..181712504 [GRCh38]
Chr3:181430291..181430292 [GRCh37]
Chr3:3q26.33
pathogenic
SOX2, DEL deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013667] Chr3:3q26.3-q27 pathogenic
SOX2, 20-BP DEL, NT70 deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013671] Chr3:3q26.3-q27 pathogenic
SOX2, 1-BP INS, 60G insertion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013672] Chr3:3q26.3-q27 pathogenic
SOX2, 17-BP DEL, NT70 deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013675] Chr3:3q26.3-q27 pathogenic
NM_003106.4(SOX2):c.551del (p.Pro184fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013676] Chr3:181712909 [GRCh38]
Chr3:181430697 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.348C>T (p.Thr116=) single nucleotide variant not provided [RCV000727911] Chr3:181712708 [GRCh38]
Chr3:181430496 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.800C>T (p.Ala267Val) single nucleotide variant not provided [RCV000519761] Chr3:181713160 [GRCh38]
Chr3:181430948 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.58_59dup (p.Gly21fs) duplication Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000022771] Chr3:181712413..181712414 [GRCh38]
Chr3:181430201..181430202 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.245T>A (p.Leu82Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000022772] Chr3:181712605 [GRCh38]
Chr3:181430393 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.529C>T (p.Gln177Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013662] Chr3:181712889 [GRCh38]
Chr3:181430677 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.277G>T (p.Glu93Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013663] Chr3:181712637 [GRCh38]
Chr3:181430425 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.248C>A (p.Ser83Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013664] Chr3:181712608 [GRCh38]
Chr3:181430396 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.290T>C (p.Leu97Pro) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013665] Chr3:181712650 [GRCh38]
Chr3:181430438 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.463C>T (p.Gln155Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013666] Chr3:181712823 [GRCh38]
Chr3:181430611 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.163C>T (p.Gln55Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013668] Chr3:181712523 [GRCh38]
Chr3:181430311 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.221G>C (p.Arg74Pro) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013669] Chr3:181712581 [GRCh38]
Chr3:181430369 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.138T>G (p.Asn46Lys) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013670] Chr3:181712498 [GRCh38]
Chr3:181430286 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) single nucleotide variant Optic nerve hypoplasia and abnormalities of the central nervous system [RCV000013673] Chr3:181712749 [GRCh38]
Chr3:181430537 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.571G>A (p.Ala191Thr) single nucleotide variant Inborn genetic diseases [RCV000624040]|Optic nerve hypoplasia and abnormalities of the central nervous system [RCV000013674] Chr3:181712931 [GRCh38]
Chr3:181430719 [GRCh37]
Chr3:3q26.33
pathogenic|uncertain significance
NM_003106.4(SOX2):c.837del (p.Gly280fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000033026] Chr3:181713194 [GRCh38]
Chr3:181430982 [GRCh37]
Chr3:3q26.33
pathogenic
GRCh38/hg38 3q26.33(chr3:181504586-182287821)x1 copy number loss See cases [RCV000051605] Chr3:181504586..182287821 [GRCh38]
Chr3:181222374..182005609 [GRCh37]
Chr3:182705068..183488303 [NCBI36]
Chr3:3q26.33
pathogenic
GRCh38/hg38 3q26.33(chr3:181710887-181748657)x1 copy number loss See cases [RCV000051606] Chr3:181710887..181748657 [GRCh38]
Chr3:181428675..181466445 [GRCh37]
Chr3:182911369..182949139 [NCBI36]
Chr3:3q26.33
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_003106.4(SOX2):c.651G>T (p.Met217Ile) single nucleotide variant not provided [RCV000080063] Chr3:181713011 [GRCh38]
Chr3:181430799 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001067610]|not provided [RCV000080064] Chr3:181712419..181712438 [GRCh38]
Chr3:181430207..181430226 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.834C>T (p.Leu278=) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000875763]|not specified [RCV000080065] Chr3:181713194 [GRCh38]
Chr3:181430982 [GRCh37]
Chr3:3q26.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_003106.4(SOX2):c.453G>A (p.Ala151=) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000878583]|not specified [RCV000173300] Chr3:181712813 [GRCh38]
Chr3:181430601 [GRCh37]
Chr3:3q26.33
benign
NM_003106.4(SOX2):c.54G>C (p.Ser18=) single nucleotide variant not provided [RCV000173301] Chr3:181712414 [GRCh38]
Chr3:181430202 [GRCh37]
Chr3:3q26.33
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.33(chr3:181689247-181794116)x1 copy number loss See cases [RCV000136979] Chr3:181689247..181794116 [GRCh38]
Chr3:181407035..181511904 [GRCh37]
Chr3:182889729..182994598 [NCBI36]
Chr3:3q26.33
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q26.33(chr3:181221877-182452343)x1 copy number loss See cases [RCV000137897] Chr3:181221877..182452343 [GRCh38]
Chr3:180939665..182170131 [GRCh37]
Chr3:182422359..183652825 [NCBI36]
Chr3:3q26.33
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q26.33(chr3:181712160-181713165)x3 copy number gain See cases [RCV000140433] Chr3:181712160..181713165 [GRCh38]
Chr3:181429948..181430953 [GRCh37]
Chr3:182912642..182913647 [NCBI36]
Chr3:3q26.33
benign
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q26.33(chr3:181644991-181751723)x3 copy number gain See cases [RCV000141467] Chr3:181644991..181751723 [GRCh38]
Chr3:181362779..181469511 [GRCh37]
Chr3:182845473..182952205 [NCBI36]
Chr3:3q26.33
benign
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
NM_003106.4(SOX2):c.64G>A (p.Gly22Ser) single nucleotide variant not provided [RCV000153989] Chr3:181712424 [GRCh38]
Chr3:181430212 [GRCh37]
Chr3:3q26.33
uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001387936]|not provided [RCV000403743] Chr3:181712840 [GRCh38]
Chr3:181430628 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.59dup (p.Gly21fs) duplication not provided [RCV000346070] Chr3:181712413..181712414 [GRCh38]
Chr3:181430201..181430202 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.320_335delinsTATTTATAAT (p.Asp107_Pro112delinsValPheIleIle) indel not provided [RCV000289466] Chr3:181712680..181712695 [GRCh38]
Chr3:181430468..181430483 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.518_522dup (p.Gln175Ter) duplication not provided [RCV000385103] Chr3:181712877..181712878 [GRCh38]
Chr3:181430665..181430666 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.181C>T (p.Gln61Ter) single nucleotide variant not provided [RCV000265106] Chr3:181712541 [GRCh38]
Chr3:181430329 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.282dup (p.Lys95Ter) duplication not provided [RCV000489039] Chr3:181712641..181712642 [GRCh38]
Chr3:181430429..181430430 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.127C>T (p.Arg43Trp) single nucleotide variant not provided [RCV000520284] Chr3:181712487 [GRCh38]
Chr3:181430275 [GRCh37]
Chr3:3q26.33
likely pathogenic
NM_003106.4(SOX2):c.244_245del (p.Leu82fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000551841] Chr3:181712602..181712603 [GRCh38]
Chr3:181430390..181430391 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.334C>G (p.Pro112Ala) single nucleotide variant Inborn genetic diseases [RCV000622296] Chr3:181712694 [GRCh38]
Chr3:181430482 [GRCh37]
Chr3:3q26.33
likely pathogenic
NM_003106.4(SOX2):c.198dup (p.His67fs) duplication not provided [RCV000521838] Chr3:181712557..181712558 [GRCh38]
Chr3:181430345..181430346 [GRCh37]
Chr3:3q26.33
pathogenic
NC_000003.11:g.181430207G>GG single nucleotide variant not provided [RCV000732340] Chr3:181430207 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.45G>A (p.Gln15=) single nucleotide variant not provided [RCV000557280] Chr3:181712405 [GRCh38]
Chr3:181430193 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.76A>G (p.Thr26Ala) single nucleotide variant not provided [RCV000734263] Chr3:181712436 [GRCh38]
Chr3:181430224 [GRCh37]
Chr3:3q26.33
uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
NM_003106.4(SOX2):c.552G>T (p.Pro184=) single nucleotide variant not specified [RCV000417930] Chr3:181712912 [GRCh38]
Chr3:181430700 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.-31C>T single nucleotide variant not specified [RCV000440682] Chr3:181712330 [GRCh38]
Chr3:181430118 [GRCh37]
Chr3:3q26.33
benign
Single allele duplication Currarino triad [RCV000417195] Chr3:177772523..185716872 [GRCh38]
Chr3:3q26.32-27.2
likely pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_003106.4(SOX2):c.157dup (p.Arg53fs) duplication Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000536949] Chr3:181712514..181712515 [GRCh38]
Chr3:181430302..181430303 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.397G>A (p.Ala133Thr) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000644036] Chr3:181712757 [GRCh38]
Chr3:181430545 [GRCh37]
Chr3:3q26.33
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_003106.4(SOX2):c.540C>G (p.Tyr180Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000644035] Chr3:181712900 [GRCh38]
Chr3:181430688 [GRCh37]
Chr3:3q26.33
pathogenic
NC_000003.12:g.(?_181712341)_(181874887_?)del deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000558193] Chr3:181712341..181874887 [GRCh38]
Chr3:181430129..181592675 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.243T>G (p.Leu81=) single nucleotide variant not provided [RCV000877365]|not specified [RCV000614482] Chr3:181712603 [GRCh38]
Chr3:181430391 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.70_86del (p.Asn24fs) deletion Inborn genetic diseases [RCV000622595] Chr3:181712422..181712438 [GRCh38]
Chr3:181430210..181430226 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.424G>C (p.Gly142Arg) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000701174] Chr3:181712784 [GRCh38]
Chr3:181430572 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.337C>T (p.Arg113Trp) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000700513] Chr3:181712697 [GRCh38]
Chr3:181430485 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.166C>T (p.Arg56Trp) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000685229] Chr3:181712526 [GRCh38]
Chr3:181430314 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.67_89dup (p.Gly31fs) duplication Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000705815] Chr3:181712417..181712418 [GRCh38]
Chr3:181430205..181430206 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.841_860delinsACCTCGG (p.Ala281fs) indel Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000686087] Chr3:181713201..181713220 [GRCh38]
Chr3:181430989..181431008 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.385_386del (p.Gly129fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000735864] Chr3:181712745..181712746 [GRCh38]
Chr3:181430533..181430534 [GRCh37]
Chr3:3q26.33
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
NM_003106.4(SOX2):c.429C>A (p.Val143=) single nucleotide variant not provided [RCV000918590] Chr3:181712789 [GRCh38]
Chr3:181430577 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.3dup (p.Tyr2fs) duplication Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001065976] Chr3:181712362..181712363 [GRCh38]
Chr3:181430150..181430151 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.51T>C (p.Thr17=) single nucleotide variant not provided [RCV000927219] Chr3:181712411 [GRCh38]
Chr3:181430199 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.53C>A (p.Ser18Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001061085] Chr3:181712413 [GRCh38]
Chr3:181430201 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.20C>T (p.Thr7Met) single nucleotide variant Congenital aniridia [RCV001090007] Chr3:181712380 [GRCh38]
Chr3:181430168 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.231C>A (p.Ala77=) single nucleotide variant not provided [RCV000875698] Chr3:181712591 [GRCh38]
Chr3:181430379 [GRCh37]
Chr3:3q26.33
benign
NM_003106.4(SOX2):c.495C>A (p.Gly165=) single nucleotide variant not provided [RCV000922907] Chr3:181712855 [GRCh38]
Chr3:181430643 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.33G>T (p.Pro11=) single nucleotide variant not provided [RCV000878788] Chr3:181712393 [GRCh38]
Chr3:181430181 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.698C>G (p.Pro233Arg) single nucleotide variant Esophageal atresia [RCV000984685] Chr3:181713058 [GRCh38]
Chr3:181430846 [GRCh37]
Chr3:3q26.33
likely pathogenic
NC_000003.12:g.(?_181712341)_(181713334_?)del deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000823967] Chr3:181712341..181713334 [GRCh38]
Chr3:181430129..181431122 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.-11A>C single nucleotide variant not provided [RCV000838126] Chr3:181712350 [GRCh38]
Chr3:181430138 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.799G>A (p.Ala267Thr) single nucleotide variant not provided [RCV000841279] Chr3:181713159 [GRCh38]
Chr3:181430947 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.-20G>T single nucleotide variant not provided [RCV000842196] Chr3:181712341 [GRCh38]
Chr3:181430129 [GRCh37]
Chr3:3q26.33
likely benign
GRCh37/hg19 3q26.33(chr3:181386449-181504204)x1 copy number loss not provided [RCV001005493] Chr3:181386449..181504204 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.143T>C (p.Phe48Ser) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001218665] Chr3:181712503 [GRCh38]
Chr3:181430291 [GRCh37]
Chr3:3q26.33
likely pathogenic
NM_003106.4(SOX2):c.861C>T (p.Ala287=) single nucleotide variant not provided [RCV000908036] Chr3:181713221 [GRCh38]
Chr3:181431009 [GRCh37]
Chr3:3q26.33
likely benign
NM_003106.4(SOX2):c.314_317del (p.His105fs) deletion not provided [RCV001172159] Chr3:181712673..181712676 [GRCh38]
Chr3:181430461..181430464 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.388_391del (p.Gly130fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001226732] Chr3:181712745..181712748 [GRCh38]
Chr3:181430533..181430536 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.368A>G (p.Asp123Gly) single nucleotide variant not provided [RCV001092446] Chr3:181712728 [GRCh38]
Chr3:181430516 [GRCh37]
Chr3:3q26.33
pathogenic
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
GRCh37/hg19 3q26.33(chr3:180510432-181562798)x1 copy number loss not provided [RCV001005492] Chr3:180510432..181562798 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.100C>T (p.Gln34Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001195766]|SOX2-Related Disorder [RCV001249255] Chr3:181712460 [GRCh38]
Chr3:181430248 [GRCh37]
Chr3:3q26.33
uncertain significance|not provided
NM_003106.4(SOX2):c.87_96dup (p.Asn33fs) duplication Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001253803] Chr3:181712439..181712440 [GRCh38]
Chr3:181430227..181430228 [GRCh37]
Chr3:3q26.33
pathogenic
GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267845] Chr3:180102701..181991155 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.859G>C (p.Ala287Pro) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267850] Chr3:181713219 [GRCh38]
Chr3:181431007 [GRCh37]
Chr3:3q26.33
uncertain significance
GRCh37/hg19 3q26.33(chr3:180913778-181432287)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267851] Chr3:180913778..181432287 [GRCh37]
Chr3:3q26.33
pathogenic
GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267852] Chr3:180834336..183551661 [GRCh37]
Chr3:3q26.33-27.1
pathogenic
NM_003106.4(SOX2):c.310G>T (p.Glu104Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267855] Chr3:181712670 [GRCh38]
Chr3:181430458 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.58GGC[5] (p.Gly23dup) microsatellite Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267856] Chr3:181712417..181712418 [GRCh38]
Chr3:181430205..181430206 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.828del (p.Met276fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267857] Chr3:181713188 [GRCh38]
Chr3:181430976 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer) indel Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267858] Chr3:181712942..181712943 [GRCh38]
Chr3:181430730..181430731 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267863] Chr3:181712960 [GRCh38]
Chr3:181430748 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.402del (p.Gly135fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267864] Chr3:181712758 [GRCh38]
Chr3:181430546 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.16G>T (p.Glu6Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267865] Chr3:181712376 [GRCh38]
Chr3:181430164 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.59del (p.Gly20fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267868] Chr3:181712414 [GRCh38]
Chr3:181430202 [GRCh37]
Chr3:3q26.33
pathogenic
GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1 copy number loss not provided [RCV001259729] Chr3:179016729..181527320 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.22G>T (p.Glu8Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001269466] Chr3:181712382 [GRCh38]
Chr3:181430170 [GRCh37]
Chr3:3q26.33
likely pathogenic
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267847] Chr3:181171210..184706091 [GRCh37]
Chr3:3q26.33-27.2
pathogenic
NM_003106.4(SOX2):c.921_930del (p.Ile308fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267853] Chr3:181713276..181713285 [GRCh38]
Chr3:181431064..181431073 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.131C>G (p.Pro44Arg) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267854] Chr3:181712491 [GRCh38]
Chr3:181430279 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.166C>G (p.Arg56Gly) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267861] Chr3:181712526 [GRCh38]
Chr3:181430314 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.941del (p.Leu314fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267862] Chr3:181713301 [GRCh38]
Chr3:181431089 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.542del (p.Pro181fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267866] Chr3:181712900 [GRCh38]
Chr3:181430688 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.538_542dup (p.Gln182fs) duplication Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267867] Chr3:181712896..181712897 [GRCh38]
Chr3:181430684..181430685 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.943_944del (p.Ser315fs) microsatellite Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267870] Chr3:181713300..181713301 [GRCh38]
Chr3:181431088..181431089 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.486_487dup (p.Met163fs) microsatellite Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267859] Chr3:181712843..181712844 [GRCh38]
Chr3:181430631..181430632 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.-13_43del (p.Met1fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267860] Chr3:181712337..181712392 [GRCh38]
Chr3:181430125..181430180 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.58_59delinsT (p.Gly20fs) indel Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267869] Chr3:181712418..181712419 [GRCh38]
Chr3:181430206..181430207 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.402dup (p.Gly135fs) duplication not provided [RCV001281583] Chr3:181712757..181712758 [GRCh38]
Chr3:181430545..181430546 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.287G>C (p.Arg96Pro) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001342057] Chr3:181712647 [GRCh38]
Chr3:181430435 [GRCh37]
Chr3:3q26.33
uncertain significance
NM_003106.4(SOX2):c.175del (p.Met59fs) deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001388674] Chr3:181712535 [GRCh38]
Chr3:181430323 [GRCh37]
Chr3:3q26.33
pathogenic
NM_003106.4(SOX2):c.498G>A (p.Trp166Ter) single nucleotide variant Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001375935] Chr3:181712858 [GRCh38]
Chr3:181430646 [GRCh37]
Chr3:3q26.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11195 AgrOrtholog
COSMIC SOX2 COSMIC
Ensembl Genes ENSG00000181449 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000323588 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000325404 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000181449 GTEx
HGNC ID HGNC:11195 ENTREZGENE
Human Proteome Map SOX2 Human Proteome Map
InterPro HMG_box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOX-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOX_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6657 ENTREZGENE
OMIM 184429 OMIM
  206900 OMIM
PANTHER PTHR10270:SF231 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HMG_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOXp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36032 PharmGKB
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HMG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B5HFB3_HUMAN UniProtKB/TrEMBL
  A0A0B5HFE5_HUMAN UniProtKB/TrEMBL
  A0A0B5HLA0_HUMAN UniProtKB/TrEMBL
  A0A0B5HP19_HUMAN UniProtKB/TrEMBL
  A0A0B5HSU3_HUMAN UniProtKB/TrEMBL
  A0A0U3FYV6 ENTREZGENE, UniProtKB/TrEMBL
  P48431 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q14537 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-25 SOX2  SRY-box transcription factor 2  SOX2  SRY-box 2  Symbol and/or name change 5135510 APPROVED
2015-12-01 SOX2  SRY-box 2    SRY box 2  Symbol and/or name change 5135510 APPROVED
2015-11-10 SOX2  SRY box 2    SRY (sex determining region Y)-box 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 SOX2  SRY (sex determining region Y)-box 2  SOX2  SRY (sex determining region Y)-box 2  Symbol and/or name change 5135510 APPROVED