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Q9NPC8

- SIX2_HUMAN

UniProt

Q9NPC8 - SIX2_HUMAN

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Protein
Homeobox protein SIX2
Gene
SIX2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

May be involved in limb tendon and ligament development By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi124 – 18360Homeobox
Add
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: Ensembl
  2. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. cell proliferation Source: Ensembl
  3. chondrocyte differentiation Source: Ensembl
  4. embryonic cranial skeleton morphogenesis Source: Ensembl
  5. kidney development Source: UniProtKB
  6. mesenchymal to epithelial transition involved in metanephros morphogenesis Source: Ensembl
  7. mesodermal cell fate specification Source: Ensembl
  8. middle ear morphogenesis Source: Ensembl
  9. negative regulation of cell differentiation Source: Ensembl
  10. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  11. protein import into nucleus Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein SIX2
Alternative name(s):
Sine oculis homeobox homolog 2
Gene namesi
Name:SIX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:10888. SIX2.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35788.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 291291Homeobox protein SIX2
PRO_0000049297Add
BLAST

Proteomic databases

MaxQBiQ9NPC8.
PaxDbiQ9NPC8.
PRIDEiQ9NPC8.

Expressioni

Tissue specificityi

Strongly expressed in skeletal muscle. Expressed in Wilms' tumor and in the cap mesenchyme of fetal kidney (at protein level).1 Publication

Gene expression databases

BgeeiQ9NPC8.
CleanExiHS_SIX2.
GenevestigatoriQ9NPC8.

Organism-specific databases

HPAiHPA052782.

Interactioni

Protein-protein interaction databases

BioGridi115959. 1 interaction.
STRINGi9606.ENSP00000304502.

Structurei

3D structure databases

ProteinModelPortaliQ9NPC8.
SMRiQ9NPC8. Positions 1-185.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG289502.
HOGENOMiHOG000261680.
HOVERGENiHBG003609.
InParanoidiQ9NPC8.
OMAiANSNSHN.
OrthoDBiEOG7C5M8Z.
PhylomeDBiQ9NPC8.
TreeFamiTF315545.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NPC8-1 [UniParc]FASTAAdd to Basket

« Hide

MSMLPTFGFT QEQVACVCEV LQQGGNIERL GRFLWSLPAC EHLHKNESVL    50
KAKAVVAFHR GNFRELYKIL ESHQFSPHNH AKLQQLWLKA HYIEAEKLRG 100
RPLGAVGKYR VRRKFPLPRS IWDGEETSYC FKEKSRSVLR EWYAHNPYPS 150
PREKRELAEA TGLTTTQVSN WFKNRRQRDR AAEAKERENN ENSNSNSHNP 200
LNGSGKSVLG SSEDEKTPSG TPDHSSSSPA LLLSPPPPGL PSLHSLGHPP 250
GPSAVPVPVP GGGGADPLQH HHGLQDSILN PMSANLVDLG S 291
Length:291
Mass (Da):32,286
Last modified:October 1, 2000 - v1
Checksum:i8388C3C331575BDD
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF136939 Genomic DNA. Translation: AAF69031.1.
AF136940 mRNA. Translation: AAF69032.1.
AF332196 mRNA. Translation: AAK16581.1.
AF332197 mRNA. Translation: AAK16582.1.
AF332198 Genomic DNA. Translation: AAK16583.1.
AF323498 Genomic DNA. Translation: AAK06773.1.
BT020100 mRNA. Translation: AAV38903.1.
CCDSiCCDS1822.1.
RefSeqiNP_058628.3. NM_016932.4.
UniGeneiHs.101937.

Genome annotation databases

EnsembliENST00000303077; ENSP00000304502; ENSG00000170577.
GeneIDi10736.
KEGGihsa:10736.
UCSCiuc002ruo.3. human.

Polymorphism databases

DMDMi12230598.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF136939 Genomic DNA. Translation: AAF69031.1 .
AF136940 mRNA. Translation: AAF69032.1 .
AF332196 mRNA. Translation: AAK16581.1 .
AF332197 mRNA. Translation: AAK16582.1 .
AF332198 Genomic DNA. Translation: AAK16583.1 .
AF323498 Genomic DNA. Translation: AAK06773.1 .
BT020100 mRNA. Translation: AAV38903.1 .
CCDSi CCDS1822.1.
RefSeqi NP_058628.3. NM_016932.4.
UniGenei Hs.101937.

3D structure databases

ProteinModelPortali Q9NPC8.
SMRi Q9NPC8. Positions 1-185.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115959. 1 interaction.
STRINGi 9606.ENSP00000304502.

Polymorphism databases

DMDMi 12230598.

Proteomic databases

MaxQBi Q9NPC8.
PaxDbi Q9NPC8.
PRIDEi Q9NPC8.

Protocols and materials databases

DNASUi 10736.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303077 ; ENSP00000304502 ; ENSG00000170577 .
GeneIDi 10736.
KEGGi hsa:10736.
UCSCi uc002ruo.3. human.

Organism-specific databases

CTDi 10736.
GeneCardsi GC02M045232.
HGNCi HGNC:10888. SIX2.
HPAi HPA052782.
MIMi 604994. gene.
neXtProti NX_Q9NPC8.
PharmGKBi PA35788.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289502.
HOGENOMi HOG000261680.
HOVERGENi HBG003609.
InParanoidi Q9NPC8.
OMAi ANSNSHN.
OrthoDBi EOG7C5M8Z.
PhylomeDBi Q9NPC8.
TreeFami TF315545.

Miscellaneous databases

GeneWikii SIX2.
GenomeRNAii 10736.
NextBioi 40762.
PROi Q9NPC8.
SOURCEi Search...

Gene expression databases

Bgeei Q9NPC8.
CleanExi HS_SIX2.
Genevestigatori Q9NPC8.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2."
    Boucher C.A., Winchester C.L., Hamilton G.M., Winter A.D., Johnson K.J., Bailey M.E.S.
    Gene 247:145-151(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  2. "Molecular characterization of the human SIX2 gene: alternative polyadenylation and localization within the HPE2 critical region 2p21."
    Hedrich K., Hehr A.J., Hansmann I., Hehr U.
    Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    Tissue: Salivary gland.
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "SIX2 and CITED1, markers of nephronic progenitor self-renewal, remain active in primitive elements of Wilms' tumor."
    Murphy A.J., Pierce J., de Caestecker C., Taylor C., Anderson J.R., Perantoni A.O., de Caestecker M.P., Lovvorn H.N. III
    J. Pediatr. Surg. 47:1239-1249(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiSIX2_HUMAN
AccessioniPrimary (citable) accession number: Q9NPC8
Secondary accession number(s): Q9BXH7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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