Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 79923
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol NANOG   Gene   UCSC   Ensembl
Gene name Nanog homeobox
Alternate names homeobox protein NANOG, homeobox transcription factor Nanog, homeobox transcription factor Nanog-delta 48,
Gene location 12p13.31 (7789395: 7796060)     Exons: 4     NC_000012.12
Gene summary(Entrez) The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
OMIM 607937

Protein Summary
Protein general information Q9H9S0  

Name: Homeobox protein NANOG (Homeobox transcription factor Nanog) (hNanog)

Length: 305  Mass: 34,620

Tissue specificity: Expressed in testicular carcinoma and derived germ cell tumors (at protein level). Expressed in fetal gonads, ovary and testis. Also expressed in ovary teratocarcinoma cell line and testicular embryonic carcinoma. Not expressed in many

Sequence MSVDPACPQSLPCFEASDCKESSPMPVICGPEENYPSLQMSSAEMPHTETVSPLPSSMDLLIQDSPDSSTSPKGK
QPTSAEKSVAKKEDKVPVKKQKTRTVFSSTQLCVLNDRFQRQKYLSLQQMQELSNILNLSYKQVKTWFQNQRMKS
KRWQKNNWPKNSNGVTQKASAPTYPSLYSSYHQGCLVNPTGNLPMWSNQTWNNSTWSNQTQNIQSWSNHSWNTQT
WCTQSWNNQAWNSPFYNCGEESLQSCMQFQPNSPASDLEAALEAAGEGLNVIQQTTRYFSTPQTMDLFLNYSMNM
QPEDV
Structural information
Interpro:  IPR009057 IPR017970 IPR001356
Prosite:   PS00027 PS50071

Pfam:  		 PF00046

PDB:  		 2KT0
PDBsum:   2KT0
STRING:   ENSP00000229307;
Other Databases GeneCards:  NANOG;  Malacards:  NANOG

Gene ontology


GO accessionTerm nameEvidence codeGo category
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:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003714 transcription corepressor
activity
 ISS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IC cellular_component
GO:0005634 nucleus
 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:0005730 nucleolus
 IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IDA biological_process
GO:0008283 cell proliferation
 IMP biological_process
GO:0010468 regulation of gene expres
sion
 IMP biological_process
GO:0019827 stem cell population main
tenance
 IEP biological_process
GO:0030154 cell differentiation
 IEP 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:0043565 sequence-specific DNA bin
ding
 IEA molecular_function
GO:0045595 regulation of cell differ
entiation
 IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:1903507 negative regulation of nu
cleic acid-templated tran
scription
 IEA 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:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003714 transcription corepressor
activity
 ISS molecular_function
GO:0005515 protein binding
 IPI molecular_function
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: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:0005730 nucleolus
 IDA cellular_component
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:0007275 multicellular organism de
velopment
 IEA biological_process
GO:0008283 cell proliferation
 IMP biological_process
GO:0010468 regulation of gene expres
sion
 IMP biological_process
GO:0019827 stem cell population main
tenance
 IEP biological_process
GO:0030154 cell differentiation
 IEP 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:0043565 sequence-specific DNA bin
ding
 IEA molecular_function
GO:0045595 regulation of cell differ
entiation
 IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:1903507 negative regulation of nu
cleic acid-templated tran
scription
 IEA 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:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003714 transcription corepressor
activity
 ISS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IC cellular_component
GO:0005634 nucleus
 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:0005730 nucleolus
 IDA cellular_component
GO:0006355 regulation of transcripti
on, DNA-templated
 IDA biological_process
GO:0008283 cell proliferation
 IMP biological_process
GO:0010468 regulation of gene expres
sion
 IMP biological_process
GO:0019827 stem cell population main
tenance
 IEP biological_process
GO:0030154 cell differentiation
 IEP 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:0045595 regulation of cell differ
entiation
 IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process

KEGG pathways

hsa05205  Proteoglycans in cancer
hsa04550  Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases References
Endometriosis PMID: 23290742
Ovarian endometriosis PMID: 24884521
Ovarian endometriosis INFBASE24884521
Endometriosis INFBASE23290742

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23290742 Endometrio
sis
106 (9 with nor
mal endometrium
, 36 patients
with hyperplast
ic endometrium,
58 patients wi
th endometriosi
s)
 OCT4
NANOG
VIMENTIN
TWIST
and SLUG
 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