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Aliases for SIX2 Gene

Aliases for SIX2 Gene

  • SIX Homeobox 2 2 3
  • Sine Oculis Homeobox (Drosophila) Homolog 2 2
  • Sine Oculis Homeobox Homolog 2 (Drosophila) 2
  • Sine Oculis Homeobox Homolog 2 4

External Ids for SIX2 Gene

Previous GeneCards Identifiers for SIX2 Gene

  • GC02M045231
  • GC02M045401
  • GC02M045206
  • GC02M045143
  • GC02M045232
  • GC02M044969

Summaries for SIX2 Gene

Entrez Gene Summary for SIX2 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]

GeneCards Summary for SIX2 Gene

SIX2 (SIX Homeobox 2) is a Protein Coding gene. Diseases associated with SIX2 include microtia. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein complex binding. An important paralog of this gene is SIX6.

UniProtKB/Swiss-Prot for SIX2 Gene

  • Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud and cooperates with WNT9B to promote renewing progenitor cells proliferation. Acts through its interaction with TCF7L2 and OSR1 in a canonical Wnt signaling independent manner preventing transcription of differentiation genes in cap mesenchyme such as WNT4. Also acts independently of OSR1 to activate expression of many cap mesenchyme genes, including itself, GDNF and OSR1. During craniofacial development plays a role in growth and elongation of the cranial base through regulation of chondrocyte differentiation. During stomach organogenesis, controls pyloric sphincter formation and mucosal growth through regulation of a gene network including NKX2-5, BMPR1B, BMP4, SOX9 and GREM1. During branchial arch development, acts to mediate HOXA2 control over the insulin-like growth factor pathway. Also may be involved in limb tendon and ligament development (By similarity). Plays a role in cell proliferation and migration.

Gene Wiki entry for SIX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIX2 Gene

Genomics for SIX2 Gene

Regulatory Elements for SIX2 Gene

Genomic Location for SIX2 Gene

Start:
45,005,161 bp from pter
End:
45,009,441 bp from pter
Size:
4,281 bases
Orientation:
Minus strand

Genomic View for SIX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SIX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIX2 Gene

Proteins for SIX2 Gene

  • Protein details for SIX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPC8-SIX2_HUMAN
    Recommended name:
    Homeobox protein SIX2
    Protein Accession:
    Q9NPC8
    Secondary Accessions:
    • Q9BXH7

    Protein attributes for SIX2 Gene

    Size:
    291 amino acids
    Molecular mass:
    32286 Da
    Quaternary structure:
    • Interacts with TCF7L2; in a canonical Wnt signaling independent manner; prevents transcription of differentiation genes in cap mesenchyme. Interacts with OSR1; form a strong repressor complex with TCF7L2, TLE2 and TLE3 to prevent the activation of Wnt/beta-catenin target genes in the cap mesenchyme. Interacts with HOXA11, EYA1 and EYA3.

neXtProt entry for SIX2 Gene

Proteomics data for SIX2 Gene at MOPED

Post-translational modifications for SIX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SIX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SIX2 Gene

Domains for SIX2 Gene

Gene Families for SIX2 Gene

HGNC:
  • SIX :Homeoboxes / SINE class

Suggested Antigen Peptide Sequences for SIX2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NPC8

UniProtKB/Swiss-Prot:

SIX2_HUMAN :
  • Q9NPC8
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the SIX/Sine oculis homeobox family.
genes like me logo Genes that share domains with SIX2: view

Function for SIX2 Gene

Molecular function for SIX2 Gene

GENATLAS Biochemistry: Drosophila sine oculis homolog SIX2 homeo box encoding gene,expressed in mesenchyme in mouse
UniProtKB/Swiss-Prot Function: Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud and cooperates with WNT9B to promote renewing progenitor cells proliferation. Acts through its interaction with TCF7L2 and OSR1 in a canonical Wnt signaling independent manner preventing transcription of differentiation genes in cap mesenchyme such as WNT4. Also acts independently of OSR1 to activate expression of many cap mesenchyme genes, including itself, GDNF and OSR1. During craniofacial development plays a role in growth and elongation of the cranial base through regulation of chondrocyte differentiation. During stomach organogenesis, controls pyloric sphincter formation and mucosal growth through regulation of a gene network including NKX2-5, BMPR1B, BMP4, SOX9 and GREM1. During branchial arch development, acts to mediate HOXA2 control over the insulin-like growth factor pathway. Also may be involved in limb tendon and ligament development (By similarity). Plays a role in cell proliferation and migration.

Gene Ontology (GO) - Molecular Function for SIX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding --
GO:0008134 transcription factor binding IEA --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with SIX2: view
genes like me logo Genes that share phenotypes with SIX2: view

Animal Models for SIX2 Gene

MGI Knock Outs for SIX2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SIX2 Gene

Localization for SIX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIX2 Gene COMPARTMENTS Subcellular localization image for SIX2 gene
Compartment Confidence
nucleus 5
extracellular 1

Gene Ontology (GO) - Cellular Components for SIX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with SIX2: view

Pathways for SIX2 Gene

SuperPathways for SIX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SIX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001656 metanephros development --
GO:0001822 kidney development ISS --
GO:0002062 chondrocyte differentiation IEA --
GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis ISS --
GO:0006606 protein import into nucleus IEA --
genes like me logo Genes that share ontologies with SIX2: view

No data available for Pathways by source for SIX2 Gene

Transcripts for SIX2 Gene

mRNA/cDNA for SIX2 Gene

Unigene Clusters for SIX2 Gene

SIX homeobox 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SIX2 Gene

No ASD Table

Relevant External Links for SIX2 Gene

GeneLoc Exon Structure for
SIX2
ECgene alternative splicing isoforms for
SIX2

Expression for SIX2 Gene

mRNA expression in normal human tissues for SIX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIX2 Gene

This gene is overexpressed in Muscle - Skeletal (14.2), Stomach (5.3), and Pituitary (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SIX2 Gene

SOURCE GeneReport for Unigene cluster for SIX2 Gene Hs.101937

mRNA Expression by UniProt/SwissProt for SIX2 Gene

Q9NPC8-SIX2_HUMAN
Tissue specificity: Strongly expressed in skeletal muscle. Expressed in Wilms tumor and in the cap mesenchyme of fetal kidney (at protein level).
genes like me logo Genes that share expressions with SIX2: view

Orthologs for SIX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIX2 35
  • 100 (n)
  • 100 (a)
SIX2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SIX2 35
  • 93.47 (n)
  • 97.94 (a)
SIX2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SIX2 35
  • 93.47 (n)
  • 97.59 (a)
SIX2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Six2 35
  • 92.33 (n)
  • 97.59 (a)
Six2 16
Six2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIX2 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIX2 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Six2 35
  • 91.75 (n)
  • 97.59 (a)
chicken
(Gallus gallus)
Aves SIX2 35
  • 83.92 (n)
  • 90.49 (a)
SIX2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIX2 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia six2-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia six2 35
  • 76.64 (n)
  • 87.32 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
six2a 35
  • 74.04 (n)
  • 87.37 (a)
six2a 36
  • 89 (a)
OneToMany
six2b 36
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta so 36
  • 42 (a)
OneToMany
so 37
  • 86 (a)
Six4 37
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-33 36
  • 44 (a)
OneToMany
ceh-33 37
  • 59 (a)
ceh-32 37
  • 54 (a)
ceh-34 37
  • 52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for SIX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SIX2 Gene

ENSEMBL:
Gene Tree for SIX2 (if available)
TreeFam:
Gene Tree for SIX2 (if available)

Paralogs for SIX2 Gene

Paralogs for SIX2 Gene

Selected SIMAP similar genes for SIX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SIX2: view

Variants for SIX2 Gene

Sequence variations from dbSNP and Humsavar for SIX2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs895631 -- 45,007,871(-) TCCTT(A/G)GGCCC intron-variant
rs921117 -- 45,011,072(-) GCAAA(A/G)CCAAA upstream-variant-2KB
rs921118 -- 45,011,034(-) TTCCG(C/T)GCTCC upstream-variant-2KB
rs1118180 -- 45,008,463(-) GAGGC(A/C)TAAAC intron-variant
rs1529973 -- 45,006,922(+) GCTAG(C/G)AGGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SIX2 Gene

Variant ID Type Subtype PubMed ID
nsv2711 CNV Loss 18451855

Relevant External Links for SIX2 Gene

HapMap Linkage Disequilibrium report
SIX2
Human Gene Mutation Database (HGMD)
SIX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIX2 Gene

Disorders for SIX2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SIX2 Gene including...

Search for SIX2 Gene in MalaCards »

Relevant External Links for SIX2

Genetic Association Database (GAD)
SIX2
genes like me logo Genes that share disorders with SIX2: view

No data available for UniProtKB/Swiss-Prot for SIX2 Gene

Publications for SIX2 Gene

  1. Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2. (PMID: 10773454) Boucher C.A. … Bailey M.E.S. (Gene 2000) 3 4 23
  2. Familial syndromic esophageal atresia maps to 2p23-p24. (PMID: 10677303) Celli J. … Brunner H.G. (Am. J. Hum. Genet. 2000) 3 4
  3. SIX2 and BMP4 mutations associate with anomalous kidney development. (PMID: 18305125) Weber S. … Burdine R.D. (J. Am. Soc. Nephrol. 2008) 3 4
  4. SIX2 and CITED1, markers of nephronic progenitor self-renewal, remain active in primitive elements of Wilms' tumor. (PMID: 22703800) Murphy A.J. … Lovvorn H.N. (J. Pediatr. Surg. 2012) 3 4
  5. The pluripotent renal stem cell regulator SIX2 is activated in renal neoplasms and influences cellular proliferation and migration. (PMID: 22995329) Senanayake U. … Guertl B. (Hum. Pathol. 2013) 3 4

Products for SIX2 Gene

Sources for SIX2 Gene

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