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FLASH GENE
Symbol SIX2 contributors: mct - updated : 13-10-2010
HGNC name SIX homeobox 2
HGNC id 10888
Location 2p21      Physical location : 45.232.324 - 45.236.542
Synonym name sine oculis homeobox homolog 2 (Drosophila)
DNA
TYPE functioning gene
STRUCTURE 4.24 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
MTA3 2p21 tumor-associated calcium signal transducer 1 TG1019 2p22.1 G-protein coupled receptor TG1019 HAAO 2p21 3-hydroxyanthranilate 3,4-dioxygenase LOC388943 2 similar to cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1 ZFP36L2 2p22.3 zinc finger protein 36, C3H type-like 2 MGC40574 2p22.1 hypothetical protein MGC40574 THADA 2p22.1 thyroid adenoma associated KIAA2028 2p22.1 similar to PH (pleckstrin homology) domain D2LIC 2p25.1-p24.1 dynein 2 light intermediate chain ABCG5 2p21 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) ABCG8 2p21 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2) LRPPRC 2p21 leucine-rich PPR-motif containing PPM1B 2p22,1 protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform LOC391371 2 similar to 60S RIBOSOMAL PROTEIN L12 SLC3A1 2p16.3 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 FLJ23451 2p22.1 hypothetical protein FLJ23451 SIX3 2p21-p16 sine oculis homeobox homolog 3 (Drosophila) LOC388944 2 LOC388944 SIX2 2p16-p15 sine oculis homeobox homolog 2 (Drosophila) LOC151111 2p21 hypothetical LOC151111 FLJ10379 2p21 hypothetical protein FLJ10379 PRKCE 2p21 protein kinase C, epsilon EPAS1 2p21-p26 endothelial PAS domain protein 1 LOC388945 2 LOC388945 LOC388946 2 LOC388946 ATP6V1E2 2p21 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2 ARHQ 2p21 ras homolog gene family, member Q PIGF 2p16 phosphatidylinositol glycan, class F CRIPT 2p21 phosphatidylinositol glycan, class F LOC388947 2 LOC388947 SOCS5 2p21 suppressor of cytokine signaling 5 LOC388948 2 hypothetical gene supported by BC062774 MCFD2 TTC7 2p21 tetratricopeptide repeat domain 7 FLJ40172 2p21 hypothetical protein FLJ40172 CALM2 2p21.3-p21.1 calmodulin 2 (phosphorylase kinase, delta) TACSTD1 2p21 tumor-associated calcium signal transducer 1 MSH2 2p22-p21 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2178 32.3 291 - 2000 10773454
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
Nervousbrain    
Reproductivemale systemprostate   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six domain
  • a helix-turn-helix DNA (homeo) binding domain
  • HOMOLOGY
    interspecies homolog to Drosophila sine oculis homeo box SIX2
    ortholog to murine Six2
    homolog to C.elegans ceh-33
    Homologene
    FAMILY
  • SIX/Sine oculis homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in limb tendon and ligament development
  • its activity is required for maintaining the mesenchymal progenitor population in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud
  • acting to mediate HOXA2 control over the insulin-like growth factor pathway during branchial arch development
  • required during mammalian kidney organogenesis and is also necessary for the formation of the pyloric sphincter
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text embryogenesis and morphogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • activates GDNF expression (two SIX2 binding sites in the GDNF promoter that show similarity to the consensus DNA binding sequences of other homeobox proteins and harbor short palindromic sequences)
  • interacting with TLX1, HOXA2 (loss-of-function of TLX1 leads to loss of SIX2 expression and loss-of-function of HOXA2 leads to expanded SIX2 expression)
  • expression of WNT9B in SIX2-positive cells disrupts cell fate decisions in the kidney and the gastrointestinal tract
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    is a potential congenital cause of anterior cranial base defects in humans
    constitutional       loss of function
    of SIX2 and BMP4, could affect kidney development at multiple stages, leading to the congenital anomalies observed in patients with renal hypodysplasia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Six2-null newborn mice display premature fusion of the bones in the cranial base