P48431 (SOX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription factor SOX-2

Gene names

Name:

SOX2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	317 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription 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. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation By similarity. Ref.5
Subunit structure	Interacts with ZSCAN10 By similarity. Interacts with SOX3 and FGFR1 By similarity.
Subcellular location	Nucleus.
Post-translational modification	Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation By similarity.
Involvement in disease	Defects in SOX2 are the cause of microphthalmia syndromic type 3 (MCOPS3) [MIM:206900]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS3 is characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Ref.4
Biotechnological use	POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differenciated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes. Ref.5
Sequence similarities	Contains 1 HMG box DNA-binding domain.
Sequence caution	The sequence AAA35997.1 differs from that shown. Reason: Erroneous initiation. The sequence CAA83435.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Disease	Microphthalmia
Ligand	DNA-binding
Molecular function	Activator Developmental protein
PTM	Isopeptide bond Ubl conjugation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell cycle arrest Inferred from direct assay. Source: UniProtKB chromatin organization Non-traceable author statement Ref.1. Source: UniProtKB endodermal cell fate specification Inferred from direct assay. Source: MGI eye development Inferred from expression pattern. Source: UniProtKB glial cell fate commitment Non-traceable author statement. Source: UniProtKB inner ear development Inferred from expression pattern. Source: UniProtKB negative regulation of canonical Wnt receptor signaling pathway Inferred from direct assay. Source: UniProtKB negative regulation of epithelial cell proliferation Inferred from direct assay. Source: UniProtKB negative regulation of neuron differentiation Inferred from sequence or structural similarity. Source: UniProtKB osteoblast differentiation Inferred from direct assay. Source: UniProtKB pituitary gland development Inferred from expression pattern. Source: UniProtKB positive regulation of MAPKKK cascade Inferred from direct assay. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay. Source: UniProtKB regulation of cysteine-type endopeptidase activity involved in apoptotic process Inferred from direct assay. Source: UniProtKB response to growth factor stimulus Inferred from direct assay. Source: UniProtKB response to wounding Inferred from expression pattern. Source: UniProtKB somatic stem cell maintenance Inferred from direct assay. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytosol Inferred from direct assay. Source: UniProtKB transcription factor complex Traceable author statement. Source: BHF-UCL
Molecular function	miRNA binding Inferred from direct assay. Source: UniProtKB protein binding Inferred from physical interaction. Source: UniProtKB sequence-specific DNA binding Inferred from direct assay. Source: MGI sequence-specific DNA binding transcription factor activity Inferred from direct assay. Source: UniProtKB transcription regulatory region DNA binding Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 317

317

Transcription factor SOX-2

PRO_0000048715

Regions

DNA binding

41 – 109

69

HMG box

Compositional bias

19 – 23

5

Poly-Gly

Compositional bias

27 – 30

4

Poly-Ala

Amino acid modifications

Cross-link

245

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity

Secondary structure

1

.

.

.

.

.

.

.

317

Helix Strand Turn

Details...

Helix

47 – 62

16

Helix

68 – 79

12

Helix

84 – 104

21

Sequences

	Sequence		Length	Mass (Da)
	P48431 [UniParc]. Last modified February 1, 1996. Version 1. Checksum: EFCCAFE3E3A2B67B	FASTA	317	34,310
	10 20 30 40 50 60 MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR VKRPMNAFMV WSRGQRRKMA 70 80 90 100 110 120 QENPKMHNSE ISKRLGAEWK LLSETEKRPF IDEAKRLRAL HMKEHPDYKY RPRRKTKTLM 130 140 150 160 170 180 KKDKYTLPGG LLAPGGNSMA SGVGVGAGLG AGVNQRMDSY AHMNGWSNGS YSMMQDQLGY 190 200 210 220 230 240 PQHPGLNAHG AAQMQPMHRY DVSALQYNSM TSSQTYMNGS PTYSMSYSQQ GTPGMALGSM 250 260 270 280 290 300 GSVVKSEASS SPPVVTSSSH SRAPCQAGDL RDMISMYLPG AEVPEPAAPS RLHMSQHYQS 310 GPVPGTAING TLPLSHM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The cDNA sequence and chromosomal location of the human SOX2 gene." Stevanovic M., Zuffardi O., Collignon J., Lovell-Badge R., Goodfellow P. Mamm. Genome 5:640-642(1994) [PubMed: 7849401] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal brain.
[2]	Sadler L.A., Badzioch M.D., Wagner M., Graves K.A., Swaroop A., Yang-Feng T.L., Zheng K., Daiger S.P. Submitted (DEC-1992) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung.
[4]	"Mutations in SOX2 cause anophthalmia." Fantes J., Ragge N.K., Lynch S.-A., McGill N.I., Collin J.R.O., Howard-Peebles P.N., Hayward C., Vivian A.J., Williamson K., van Heyningen V., FitzPatrick D.R. Nat. Genet. 33:461-463(2003) [PubMed: 12612584] [Abstract] Cited for: INVOLVEMENT IN MCOPS3.
[5]	"Induction of pluripotent stem cells from adult human fibroblasts by defined factors." Takahashi K., Tanabe K., Ohnuki M., Narita M., Ichisaka T., Tomoda K., Yamanaka S. Cell 131:861-872(2007) [PubMed: 18035408] [Abstract] Cited for: BIOTECHNOLOGY, FUNCTION.
+	Additional computationally mapped references.

Web resources

GeneReviews

Wikipedia

Sox2 entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

Z31560 mRNA. Translation: CAA83435.1. Different initiation.
L07335 mRNA. Translation: AAA35997.1. Different initiation.
BC013923 mRNA. Translation: AAH13923.1.

IPI

IPI00009703.

RefSeq

NP_003097.1. NM_003106.3.

UniGene

Hs.518438.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1O4X	NMR	-	B	39-121	[»]
2LE4	NMR	-	A	39-118	[»]

ProteinModelPortal

P48431.

SMR

P48431. Positions 39-117.

ModBase

Search...

Protein-protein interaction databases

STRING

P48431.

PTM databases

PhosphoSite

P48431.

Polymorphism databases

DMDM

1351091.

Proteomic databases

PRIDE

P48431.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000325404; ENSP00000323588; ENSG00000181449.

GeneID

6657.

KEGG

hsa:6657.

UCSC

uc003fkx.1. human.

Organism-specific databases

CTD

6657.

GeneCards

GC03P181429.

H-InvDB

HIX0003891.

HGNC

HGNC:11195. SOX2.

HPA

CAB010648.

MIM

184429. gene.
206900. phenotype.

neXtProt

NX_P48431.

Orphanet

77298. Anophthalmia/microphthalmia - esophageal atresia.
3157. Septo-optic dysplasia.

PharmGKB

PA36032.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG19854.

GeneTree

ENSGT00600000084340.

HOGENOM

HBG446398.

HOVERGEN

HBG105663.

InParanoid

P48431.

OMA

MSALQYN.

OrthoDB

EOG4MPHQV.

PhylomeDB

P48431.

Gene expression databases

ArrayExpress

P48431.

Bgee

P48431.

CleanEx

HS_SOX2.

Genevestigator

P48431.

GermOnline

ENSG00000181449. Homo sapiens.

Family and domain databases

InterPro

IPR000910. HMG_HMG1/HMG2.
IPR009071. HMG_superfamily.
IPR022097. TF_SOX.
[Graphical view]

Gene3D

G3DSA:1.10.30.10. HMG-box. 1 hit.

KO

K09267.

Pfam

PF00505. HMG_box. 1 hit.
PF12336. SOXp. 1 hit.
[Graphical view]

SMART

SM00398. HMG. 1 hit.
[Graphical view]

SUPFAM

SSF47095. HMG-box. 1 hit.

PROSITE

PS50118. HMG_BOX_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

25951.

SOURCE

Search...

Entry information

Entry name

SOX2_HUMAN

Accession

Primary (citable) accession number: P48431
Secondary accession number(s): Q14537

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1996
Last sequence update:	February 1, 1996
Last modified:	January 25, 2012
This is version 111 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.