SIX2

Protein identityUniProt · HPA

UniProt accession

Q9NPC8

Gene

SIX2

Ensembl

ENSG00000170577

Chromosome

2

Canonical length

291 aa

Protein class

Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nuclear membrane

OverviewNCBI Gene

This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]

Canonical amino-acid sequenceUniProt

291 residues, UniProt reviewed canonical sequence.

>Q9NPC8|SIX2
     1  MSMLPTFGFT QEQVACVCEV LQQGGNIERL GRFLWSLPAC EHLHKNESVL KAKAVVAFHR
    61  GNFRELYKIL ESHQFSPHNH AKLQQLWLKA HYIEAEKLRG RPLGAVGKYR VRRKFPLPRS
   121  IWDGEETSYC FKEKSRSVLR EWYAHNPYPS PREKRELAEA TGLTTTQVSN WFKNRRQRDR
   181  AAEAKERENN ENSNSNSHNP LNGSGKSVLG SSEDEKTPSG TPDHSSSSPA LLLSPPPPGL
   241  PSLHSLGHPP GPSAVPVPVP GGGGADPLQH HHGLQDSILN PMSANLVDLG S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SIX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.48

Highest tissue expression

32 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.34

gnomAD pLI

0.94

gnomAD missense Z

0.52

DepMap mean gene effect

0.12

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• anterior/posterior axis specification
• cell migration
• cell population proliferation
• chondrocyte differentiation
• condensed mesenchymal cell proliferation
• embryonic cranial skeleton morphogenesis
• embryonic digestive tract morphogenesis
• kidney development
• mesenchymal cell differentiation involved in kidney development
• mesenchymal stem cell maintenance involved in nephron morphogenesis
• mesenchymal stem cell proliferation
• mesenchymal to epithelial transition involved in metanephros morphogenesis
• mesodermal cell fate specification
• middle ear morphogenesis
• negative regulation of epithelial cell differentiation
• nephron development
• positive regulation of chondrocyte proliferation
• protein import into nucleus
• regulation of chondrocyte differentiation
• regulation of ossification
• regulation of transcription by RNA polymerase II
• nephron morphogenesis
• regulation of branching involved in ureteric bud morphogenesis

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein-containing complex binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeobox protein SIX1, N-terminal SD domain
• Homeodomain
• Transcriptional regulator, SIX1, N-terminal SD domain

KeywordsUniProt

• Developmental protein
• DNA-binding
• Homeobox
• Nucleus

InteractionsUniProt · HPA

Protein binding partners of SIX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EYA1
• EYA3
• HOXA11
• OSR1
• TCF7L2