P48431

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession SOX2_HUMAN; P48431;
Entrez ID 6657
GenBank Protein ID
GenBank Nucleotide ID
Protein Name Transcription factor SOX-2
Gene Name SOX2
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionTranscription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity).
Sequence
(Fasta)
MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR VKRPMNAFMV WSRGQRRKMA 60
QENPKMHNSE ISKRLGAEWK LLSETEKRPF IDEAKRLRAL HMKEHPDYKY RPRRKTKTLM 120
KKDKYTLPGG LLAPGGNSMA SGVGVGAGLG AGVNQRMDSY AHMNGWSNGS YSMMQDQLGY 180
PQHPGLNAHG AAQMQPMHRY DVSALQYNSM TSSQTYMNGS PTYSMSYSQQ GTPGMALGSM 240
GSVVKSEASS SPPVVTSSSH SRAPCQAGDL RDMISMYLPG AEVPEPAAPS RLHMSQHYQS 300
GPVPGTAING TLPLSHM 318

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1MethylationLung cancer/carcinomaA24139802
[Reference]: Our studies suggest that LSD1 serves as a selective epigenetic target for therapy in Sox2-expressing cancers.

※ Disease Cross-ref Annotation

DatabaseAnnotation
Cancer Gene Census
NSCLC, oesophageal squamous carcinoma
CTD (Curated)
(count: 12)
(view all)
MESH:C538231 ; Adenocarcinoma of lung
MESH:D000853 ; Anophthalmos
MESH:D002294 ; Carcinoma, Squamous Cell
MESH:C531835 ; Esophageal atresia with or without tracheoesophageal fistula
MESH:C562729 ; Esophageal Squamous Cell Carcinoma
MESH:D008175 ; Lung Neoplasms
HGMD
(count: 33)
(view all)
CP035470; Anophthalmia; Complex rearrangements
CP061622; Anophthalmia-esophageal-genital syndrome; Complex rearrangements
CD051784; Anophthalmia; Small deletions
CD064640; Hypothalamo-pituitary-gonadal axis abnormalities; Small deletions
CD082205; Anophthalmia / microphthalmia; Small deletions
CD064641; Hypothalamo-pituitary-gonadal axis abnormalities; Small deletions

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 9)
(view all)
118       RPRRKTKTLMKKDKY     dbPAF
125       TLMKKDKYTLPGGLL     dbPAF
126       LMKKDKYTLPGGLLA     dbPAF
138       LLAPGGNSMASGVGV     dbPAF
246       SMGSVVKSEASSSPP     dbPAF
249       SVVKSEASSSPPVVT     dbPAF
Sumoylation
(count: 1)
245       GSMGSVVKSEASSSP     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource