Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 6657
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol SOX2   Gene   UCSC   Ensembl
Aliases ANOP3, MCOPS3
Gene name SRY-box 2
Alternate names transcription factor SOX-2, SRY (sex determining region Y)-box 2, SRY-related HMG-box gene 2, sex determining region Y-box 2, transcription factor SOX2,
Gene location 3q26.33 (181711923: 181714435)     Exons: 1     NC_000003.12
Gene summary(Entrez) This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
OMIM 184429

Protein Summary
Protein general information P48431  

Name: Transcription factor SOX 2

Length: 317  Mass: 34,310

Sequence MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRL
GAEWKLLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLMKKDKYTLPGGLLAPGGNSMASGVGVGAGLG
AGVNQRMDSYAHMNGWSNGSYSMMQDQLGYPQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSM
SYSQQGTPGMALGSMGSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQS
GPVPGTAINGTLPLSHM
Structural information
Interpro:  IPR009071 IPR032643 IPR022097
Prosite:   PS50118

Pfam:  		 PF00505 PF12336

PDB:  		 1O4X 2LE4
PDBsum:   1O4X 2LE4

DIP:  		 59913
STRING:   ENSP00000323588;
Other Databases GeneCards:  SOX2;  Malacards:  SOX2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 ISS biological_process
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
 IEA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IEA molecular_function
GO:0001649 osteoblast differentiatio
n
 IDA biological_process
GO:0001654 eye development
 IEP biological_process
GO:0001714 endodermal cell fate spec
ification
 IDA biological_process
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 NAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 NAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IC cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 NAS cellular_component
GO:0005654 nucleoplasm
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005667 transcription factor comp
lex
 TAS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 IDA cellular_component
GO:0006325 chromatin organization
 NAS biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IDA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 NAS biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
 IEA biological_process
GO:0007050 cell cycle arrest
 IDA biological_process
GO:0009611 response to wounding
 IEP biological_process
GO:0010468 regulation of gene expres
sion
 IMP biological_process
GO:0021781 glial cell fate commitmen
t
 NAS biological_process
GO:0021983 pituitary gland developme
nt
 IEP biological_process
GO:0021984 adenohypophysis developme
nt
 IEA biological_process
GO:0022409 positive regulation of ce
ll-cell adhesion
 IEA biological_process
GO:0030900 forebrain development
 IEP biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 IMP biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 IDA biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 IMP biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 TAS biological_process
GO:0035198 miRNA binding
 IDA molecular_function
GO:0042246 tissue regeneration
 IEA biological_process
GO:0043281 regulation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
 IDA biological_process
GO:0043410 positive regulation of MA
PK cascade
 IDA biological_process
GO:0043565 sequence-specific DNA bin
ding
 IDA molecular_function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular_function
GO:0045597 positive regulation of ce
ll differentiation
 IEA biological_process
GO:0045665 negative regulation of ne
uron differentiation
 ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0048839 inner ear development
 IEP biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
 IDA biological_process
GO:0070848 response to growth factor
 IDA biological_process
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
 IDA biological_process
GO:0097150 neuronal stem cell popula
tion maintenance
 ISS biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 ISS biological_process
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
 IEA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IEA molecular_function
GO:0001649 osteoblast differentiatio
n
 IDA biological_process
GO:0001654 eye development
 IEP biological_process
GO:0001714 endodermal cell fate spec
ification
 IDA biological_process
GO:0003677 DNA binding
 IEA molecular_function
GO:0003677 DNA binding
 IEA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 NAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 NAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IC cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 NAS cellular_component
GO:0005654 nucleoplasm
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005667 transcription factor comp
lex
 TAS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 IDA cellular_component
GO:0006325 chromatin organization
 NAS biological_process
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IDA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 NAS biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
 IEA biological_process
GO:0007050 cell cycle arrest
 IDA biological_process
GO:0007275 multicellular organism de
velopment
 IEA biological_process
GO:0009611 response to wounding
 IEP biological_process
GO:0010468 regulation of gene expres
sion
 IMP biological_process
GO:0021781 glial cell fate commitmen
t
 NAS biological_process
GO:0021983 pituitary gland developme
nt
 IEP biological_process
GO:0021984 adenohypophysis developme
nt
 IEA biological_process
GO:0022409 positive regulation of ce
ll-cell adhesion
 IEA biological_process
GO:0030900 forebrain development
 IEP biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 IMP biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 IDA biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 IMP biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 TAS biological_process
GO:0035198 miRNA binding
 IDA molecular_function
GO:0042246 tissue regeneration
 IEA biological_process
GO:0043281 regulation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
 IDA biological_process
GO:0043410 positive regulation of MA
PK cascade
 IDA biological_process
GO:0043565 sequence-specific DNA bin
ding
 IDA molecular_function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular_function
GO:0045597 positive regulation of ce
ll differentiation
 IEA biological_process
GO:0045665 negative regulation of ne
uron differentiation
 ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0048839 inner ear development
 IEP biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
 IDA biological_process
GO:0070848 response to growth factor
 IDA biological_process
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
 IDA biological_process
GO:0097150 neuronal stem cell popula
tion maintenance
 ISS biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 ISS biological_process
GO:0001649 osteoblast differentiatio
n
 IDA biological_process
GO:0001654 eye development
 IEP biological_process
GO:0001714 endodermal cell fate spec
ification
 IDA biological_process
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 NAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 NAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IC cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 NAS cellular_component
GO:0005654 nucleoplasm
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005667 transcription factor comp
lex
 TAS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 IDA cellular_component
GO:0006325 chromatin organization
 NAS biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IDA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 NAS biological_process
GO:0007050 cell cycle arrest
 IDA biological_process
GO:0009611 response to wounding
 IEP biological_process
GO:0010468 regulation of gene expres
sion
 IMP biological_process
GO:0021781 glial cell fate commitmen
t
 NAS biological_process
GO:0021983 pituitary gland developme
nt
 IEP biological_process
GO:0030900 forebrain development
 IEP biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 IMP biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 IDA biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 IMP biological_process
GO:0035019 somatic stem cell populat
ion maintenance
 TAS biological_process
GO:0035198 miRNA binding
 IDA molecular_function
GO:0043281 regulation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
 IDA biological_process
GO:0043410 positive regulation of MA
PK cascade
 IDA biological_process
GO:0043565 sequence-specific DNA bin
ding
 IDA molecular_function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular_function
GO:0045665 negative regulation of ne
uron differentiation
 ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0048839 inner ear development
 IEP biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
 IDA biological_process
GO:0070848 response to growth factor
 IDA biological_process
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
 IDA biological_process
GO:0097150 neuronal stem cell popula
tion maintenance
 ISS biological_process

KEGG pathways

hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04390  Hippo signaling pathway

Diseases

Associated diseases References
Anophthalmia and microphthalmia KEGG: H01027, OMIM: 184429
Endometriosis PMID: 23670619
Hypogonadotropic hypogonadism PMID: 17287405
Hypopituitarism PMID: 24211324
Ovarian endometriosis INFBASE24884521
Endometriosis INFBASE20850729
Myopia PMID: 17898260
Optic nerve hypoplasia OMIM: 184429
Ovarian endometriosis PMID: 24884521
Septo-optic dysplasia KEGG: H00544

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23670619 Endometrio
sis
18 ( 9 eutopic
endometrial cel
ls collected fr
om females with
endometriosis,
9 eutopic endo
metrial cells c
ollected from f
emales without
endometriosis)
 Female infertility CXCR4
SOX2
MET
CRMP2
Oct4
 Show abstract
24884521 Endometrio
sis (ovari
an)
42 (26 women wi
th laparoscopy-
diagnosed ovari
an endometriosi
s (endometriosi
s group), 16 di
sease-free wome
n (control grou
p))
 Female infertility SOX2
NANOG
OCT4
 Show abstract
20850729 Endometrio
sis
36 patients
 SOX-2
OCT-4
KLF-4
and NANOG
 Show abstract