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Aliases for SIX5 Gene

Aliases for SIX5 Gene

  • SIX Homeobox 5 2 3
  • DMAHP 3 4 6
  • DM Locus-Associated Homeodomain Protein 3 4
  • Sine Oculis Homeobox Homolog 5 3 4
  • BOR2 3 6
  • Dystrophia Myotonica-Associated Homeodomain Protein 3
  • Sine Oculis Homeobox (Drosophila) Homolog 5 2
  • Sine Oculis Homeobox Homolog 5 (Drosophila) 2
  • Homeobox Protein SIX5 3

External Ids for SIX5 Gene

Previous Symbols for SIX5 Gene

  • DMAHP

Summaries for SIX5 Gene

Entrez Gene Summary for SIX5 Gene

  • The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]

GeneCards Summary for SIX5 Gene

SIX5 (SIX Homeobox 5) is a Protein Coding gene. Diseases associated with SIX5 include branchiootorenal syndrome 2 and branchiootorenal spectrum disorders. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is SIX6.

UniProtKB/Swiss-Prot for SIX5 Gene

  • Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5-GGTGTCAG-3 motif present in the ARE regulatory element of ATP1A1. Binds a 5-TCA[AG][AG]TTNC-3 motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity).

Gene Wiki entry for SIX5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIX5 Gene

Genomics for SIX5 Gene

Genomic Location for SIX5 Gene

Start:
45,764,785 bp from pter
End:
45,769,239 bp from pter
Size:
4,455 bases
Orientation:
Minus strand

Genomic View for SIX5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SIX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIX5 Gene

Regulatory Elements for SIX5 Gene

Proteins for SIX5 Gene

  • Protein details for SIX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N196-SIX5_HUMAN
    Recommended name:
    Homeobox protein SIX5
    Protein Accession:
    Q8N196
    Secondary Accessions:

    Protein attributes for SIX5 Gene

    Size:
    739 amino acids
    Molecular mass:
    74562 Da
    Quaternary structure:
    • Probably binds DNA dimer. Interacts with EYA3, and probably EYA1 and EYA2 (By similarity).
    SequenceCaution:
    • Sequence=AAH33204.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=AK074826; Type=Erroneous termination; Positions=721; Note=Translated as Glu.; Evidence={ECO:0000305};

neXtProt entry for SIX5 Gene

Proteomics data for SIX5 Gene at MOPED

Post-translational modifications for SIX5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SIX5 Gene

No data available for DME Specific Peptides for SIX5 Gene

Domains for SIX5 Gene

Gene Families for SIX5 Gene

HGNC:
  • SIX :Homeoboxes / SINE class

Protein Domains for SIX5 Gene

UniProtKB/Swiss-Prot:

SIX5_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q8N196
Family:
  • Belongs to the SIX/Sine oculis homeobox family.:
    • Q8N196
genes like me logo Genes that share domains with SIX5: view

Function for SIX5 Gene

Molecular function for SIX5 Gene

GENATLAS Biochemistry: Drosophila sine oculis homolog SIX5,myotonic dystrophy (DM) locus-associated homeo box encoding gene,expressed in skeletal muscle,heart and brain,also expressed in eye,especially in lens epithelium,potentially involved in the development of adult onset cataracts frequently observed in DM,homolog to the muscle-specific transcription factor AREC3,inhibited in dystrophia myotonica by CTG repeat expansion in 3-non-coding region of DMPK,abuting its own 5end
UniProtKB/Swiss-Prot Function: Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5-GGTGTCAG-3 motif present in the ARE regulatory element of ATP1A1. Binds a 5-TCA[AG][AG]TTNC-3 motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity).

Gene Ontology (GO) - Molecular Function for SIX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0005515 protein binding IPI 16713569
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with SIX5: view
genes like me logo Genes that share phenotypes with SIX5: view

Animal Models for SIX5 Gene

MGI Knock Outs for SIX5:

miRNA for SIX5 Gene

miRTarBase miRNAs that target SIX5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SIX5 Gene

Localization for SIX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIX5 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIX5 Gene COMPARTMENTS Subcellular localization image for SIX5 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for SIX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with SIX5: view

Pathways for SIX5 Gene

SuperPathways for SIX5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SIX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0007286 spermatid development IEA --
GO:0008285 negative regulation of cell proliferation --
genes like me logo Genes that share ontologies with SIX5: view

No data available for Pathways by source for SIX5 Gene

Transcripts for SIX5 Gene

mRNA/cDNA for SIX5 Gene

Unigene Clusters for SIX5 Gene

SIX homeobox 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SIX5 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for SIX5 Gene

GeneLoc Exon Structure for
SIX5
ECgene alternative splicing isoforms for
SIX5

Expression for SIX5 Gene

mRNA expression in normal human tissues for SIX5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SIX5 Gene

SOURCE GeneReport for Unigene cluster for SIX5 Gene Hs.43314

mRNA Expression by UniProt/SwissProt for SIX5 Gene

Q8N196-SIX5_HUMAN
Tissue specificity: Expressed in adult but not in fetal eyes. Found in corneal epithelium and endothelium, lens epithelium, ciliary body epithelia, cellular layers of the retina and the sclera.
genes like me logo Genes that share expressions with SIX5: view

Orthologs for SIX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIX5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIX5 36
  • 99.53 (n)
  • 99.72 (a)
SIX5 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SIX5 36
  • 88.5 (n)
  • 90.76 (a)
SIX5 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SIX5 36
  • 88.79 (n)
  • 90.29 (a)
SIX5 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Six5 36
  • 84.19 (n)
  • 86.09 (a)
Six5 16
Six5 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIX5 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Six5 36
  • 83.96 (n)
  • 85.4 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 39 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii six4.3 37
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Six4 37
  • 33 (a)
OneToMany
Species with no ortholog for SIX5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SIX5 Gene

ENSEMBL:
Gene Tree for SIX5 (if available)
TreeFam:
Gene Tree for SIX5 (if available)

Paralogs for SIX5 Gene

Paralogs for SIX5 Gene

Selected SIMAP similar genes for SIX5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SIX5: view

Variants for SIX5 Gene

Sequence variations from dbSNP and Humsavar for SIX5 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs2014576 - 45,765,818(-) GCCTG(C/T)CCTTC reference, missense
rs2341097 - 45,765,644(+) CAGCA(C/T)GGTGT missense, reference
rs3745802 -- 45,767,919(+) TGTGA(G/T)CTGGT intron-variant
rs4803853 -- 45,767,979(+) GGGGG(A/G)AGAGG intron-variant
rs7257515 -- 45,765,456(+) CCCTG(C/T)GTCTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SIX5 Gene

Variant ID Type Subtype PubMed ID
dgv3954n71 CNV Loss 21882294
dgv3955n71 CNV Loss 21882294
nsv912166 CNV Loss 21882294
dgv3956n71 CNV Loss 21882294
dgv3957n71 CNV Loss 21882294
nsv912170 CNV Loss 21882294

Relevant External Links for SIX5 Gene

HapMap Linkage Disequilibrium report
SIX5
Human Gene Mutation Database (HGMD)
SIX5

Disorders for SIX5 Gene

(1) OMIM Diseases for SIX5 Gene (600963)

UniProtKB/Swiss-Prot

SIX5_HUMAN
  • Branchiootorenal syndrome 2 (BOR2) [MIM:610896]: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. {ECO:0000269 PubMed:17357085}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SIX5 Gene

(6) Novoseek inferred disease relationships for SIX5 Gene

Disease -log(P) Hits PubMed IDs
myotonic dystrophy 90.8 15
bor syndrome 90.7 3
testicular atrophy 61.8 2
defect conduction 56.3 1
conduction abnormalities 55.7 1

Relevant External Links for SIX5

GeneTests
SIX5
GeneReviews
SIX5
Genetic Association Database (GAD)
SIX5
Human Genome Epidemiology (HuGE) Navigator
SIX5
genes like me logo Genes that share disorders with SIX5: view

Publications for SIX5 Gene

  1. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. (PMID: 8595416) Boucher C.A. … Johnson K.J. (Hum. Mol. Genet. 1995) 2 3 4 23
  2. Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. (PMID: 9949207) Winchester C.L. … Johnson K.J. (Hum. Mol. Genet. 1999) 3 4 23
  3. Six and Eya expression during human somitogenesis and MyoD gene family activation. (PMID: 12500905) Fougerousse F. … Maire P. (J. Muscle Res. Cell Motil. 2002) 3 4 23
  4. Transcription factor SIX5 is mutated in patients with branchio-oto- renal syndrome. (PMID: 17357085) Hoskins B.E. … Hildebrandt F. (Am. J. Hum. Genet. 2007) 3 4 23
  5. Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1. (PMID: 11978764) Sato S. … Kawakami K. (Hum. Mol. Genet. 2002) 3 23

Products for SIX5 Gene

Sources for SIX5 Gene

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