Reviewed, UniProtKB/Swiss-Prot P48431 (SOX2_HUMAN)

Names and origin

Protein names

Recommended name:
Transcription factor SOX-2

Gene names

Name:

SOX2

Organism

Homo sapiens (Human) [Complete proteome]

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. Critical for early embryogenesis and for embryonic stem cell pluripotency 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
Sequence similarities	Contains 1 HMG box DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Disease	Microphthalmia
Ligand	DNA-binding
Molecular function	Activator
PTM	Isopeptide bond Ubl conjugation
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	cell cycle arrest Inferred from direct assay. Source: UniProtKB cellular transcription Inferred from electronic annotation. Source: UniProtKB-KW chromatin organization Ref.1 Non-traceable author statement. Source: UniProtKB glial cell fate commitment Non-traceable author statement. Source: UniProtKB negative regulation of Wnt receptor signaling pathway through beta-catenin Inferred from direct assay. Source: UniProtKB negative regulation of epithelial cell proliferation Inferred from direct assay. Source: UniProtKB osteoblast differentiation Inferred from direct assay. 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 caspase activity 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
Cellular component	cytosol Inferred from direct assay. Source: UniProtKB
Molecular function	miRNA binding Inferred from direct assay. Source: UniProtKB promoter binding Inferred from direct assay. Source: UniProtKB protein binding Inferred from physical interaction. Source: UniProtKB transcription factor activity Ref.1 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)
	P48431-1 [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.
+	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.

UniGene

Hs.518438

3D structure databases

PDBe
RCSB PDB
PDBj

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

ModBase

Search...

Protein-protein interaction databases

STRING

P48431.

PTM databases

PhosphoSite

P48431.

Proteomic databases

PRIDE

P48431.

Genome annotation databases

Ensembl

ENST00000325404; ENSP00000323588; ENSG00000181449; Homo sapiens. [Genome view]

GeneID

6657.

KEGG

hsa:6657.

UCSC

uc003fkx.1. human.

Organism-specific databases

CTD

6657.

GeneCards

GC03P182912.

H-InvDB

HIX0003891.

HGNC

HGNC:11195. SOX2.

HPA

CAB010648.

MIM

184429. gene.
206900. phenotype.

Orphanet

77298. Anophthalmia/microphthalmia - esophageal atresia.

PharmGKB

PA36032.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG19854.

HOGENOM

HBG446398.

HOVERGEN

HBG105663.

InParanoid

P48431.

OMA

MSALQYN.

OrthoDB

EOG91RSDB.

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.

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 Resources

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:	March 2, 2010
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.