The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul... See more...

Aliases for SIX1 Gene

Aliases for SIX1 Gene

  • SIX Homeobox 1 2 3 5
  • Sine Oculis Homeobox Homolog 1 3 4
  • Homeobox Protein SIX1 3 4
  • Sine Oculis Homeobox (Drosophila) Homolog 1 2
  • Sine Oculis Homeobox Homolog 1 (Drosophila) 2
  • Deafness, Autosomal Dominant 23 2
  • DFNA23 3
  • TIP39 3
  • BOS3 3

External Ids for SIX1 Gene

Previous HGNC Symbols for SIX1 Gene

  • DFNA23

Previous GeneCards Identifiers for SIX1 Gene

  • GC14M058438
  • GC14M054906
  • GC14M059102
  • GC14M060182
  • GC14M061111
  • GC14M041274
  • GC14M061113

Summaries for SIX1 Gene

Entrez Gene Summary for SIX1 Gene

  • The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]

GeneCards Summary for SIX1 Gene

SIX1 (SIX Homeobox 1) is a Protein Coding gene. Diseases associated with SIX1 include Branchiootic Syndrome 3 and Deafness, Autosomal Dominant 23. Among its related pathways are Wnt / Hedgehog / Notch and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is SIX2.

UniProtKB/Swiss-Prot Summary for SIX1 Gene

  • Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter. Regulates the expression of numerous genes, including MYC, CCND1 and EZR. Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1.

Gene Wiki entry for SIX1 Gene

Additional gene information for SIX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SIX1 Gene

Genomics for SIX1 Gene

GeneHancer (GH) Regulatory Elements for SIX1 Gene

Promoters and enhancers for SIX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J060640 Promoter/Enhancer 2.7 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 +8.1 8115 19.3 FOXK2 CTCF ZSCAN5C SIN3A USF1 POLR2G PHF8 TEAD4 ZFX ZNF639 MIR9718-001 SIX1 TRMT5 C14orf39 SLC38A6 PCNX4 LOC101927702 SIX4 TMEM30B MNAT1
GH14J061024 Enhancer 0.8 Ensembl ENCODE 15.2 -367.6 -367642 3 CTCF JUND REST RAD21 TRIM22 SMC3 DEK MEF2B FOS EBF1 SIX1 SLC38A6 TRMT5 RNU6-398P PRKCH piR-58308-113 piR-55985-048 NONHSAG015165.2
GH14J060636 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +20.4 20384 2.8 HDAC2 EZH2 POLR2A CTCF CBX8 PRDM6 SIN3A SMARCA4 RNF2 ZNF202 SALRNA1 C14orf39 SIX1 SIX4 TMEM30B piR-43106-069 lnc-SIX1-2
GH14J060632 Enhancer 0.8 Ensembl dbSUPER 11.2 +25.6 25558 1.4 ZSCAN5C CUX1 OSR2 BATF IKZF3 IRF4 PRDM6 FEZF1 JUNB PRDM4 C14orf39 SIX1 SIX4 TMEM30B lnc-SIX1-3 piR-36588-154
GH14J061212 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 10.3 -557.9 -557941 7.2 EZH2 USF1 MAFK ZNF664 ZNF24 ZNF157 CEBPB PRKCH SIX1 C14orf39 HSALNG0101760
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SIX1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SIX1

Top Transcription factor binding sites by QIAGEN in the SIX1 gene promoter:
  • AREB6
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • IRF-2
  • Nkx2-5
  • POU3F2 (N-Oct-5b)
  • PPAR-alpha

Genomic Locations for SIX1 Gene

Genomic Locations for SIX1 Gene
chr14:60,643,421-60,658,259
(GRCh38/hg38)
Size:
14,839 bases
Orientation:
Minus strand
chr14:61,110,133-61,124,977
(GRCh37/hg19)
Size:
14,845 bases
Orientation:
Minus strand

Genomic View for SIX1 Gene

Genes around SIX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIX1 Gene

Proteins for SIX1 Gene

  • Protein details for SIX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15475-SIX1_HUMAN
    Recommended name:
    Homeobox protein SIX1
    Protein Accession:
    Q15475
    Secondary Accessions:
    • Q53Y16
    • Q96H64

    Protein attributes for SIX1 Gene

    Size:
    284 amino acids
    Molecular mass:
    32210 Da
    Quaternary structure:
    • Interacts with DACH1 and EYA3 (By similarity). Interacts with EYA1 and EYA2. Interacts with CDC20. Interacts with TBX18 (PubMed:26235987).

    Three dimensional structures from OCA and Proteopedia for SIX1 Gene

neXtProt entry for SIX1 Gene

Post-translational modifications for SIX1 Gene

  • Phosphorylated during interphase; becomes hyperphosphorylated during mitosis. Hyperphosphorylation impairs binding to promoter elements.
  • Ubiquitinated by the anaphase promoting complex (APC), leading to its proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SIX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SIX1 Gene

Domains & Families for SIX1 Gene

Gene Families for SIX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SIX1 Gene

Blocks:
  • Lambda and other repressor helix-turn-helix signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SIX1 Gene

GenScript: Design optimal peptide antigens:
  • Sine oculis homeobox homolog 1 (SIX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15475

UniProtKB/Swiss-Prot:

SIX1_HUMAN :
  • Belongs to the SIX/Sine oculis homeobox family.
Family:
  • Belongs to the SIX/Sine oculis homeobox family.
genes like me logo Genes that share domains with SIX1: view

Function for SIX1 Gene

Molecular function for SIX1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter. Regulates the expression of numerous genes, including MYC, CCND1 and EZR. Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1.
GENATLAS Biochemistry:
Drosophila sine oculis homolog SIX1 homeo box encoding gene,expressed during development in limb tendons,also expressed in skeletal and smooth muscle

Phenotypes From GWAS Catalog for SIX1 Gene

Gene Ontology (GO) - Molecular Function for SIX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IMP 15141091
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001223 transcription coactivator binding IEA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 15141091
genes like me logo Genes that share ontologies with SIX1: view
genes like me logo Genes that share phenotypes with SIX1: view

Human Phenotype Ontology for SIX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SIX1 Gene

MGI Knock Outs for SIX1:

Animal Model Products

CRISPR Products

miRNA for SIX1 Gene

miRTarBase miRNAs that target SIX1
Targeted motifs for SIX1 Gene
HOMER Transcription Factor Regulatory Elements motif SIX1
  • Consensus sequence: GKVTCADRTTWC Submotif: canonical Cell Type: Myoblast GEO ID: GSE20150

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIX1

Clone Products

  • Addgene plasmids for SIX1

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for SIX1 Gene

Localization for SIX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIX1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SIX1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SIX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA,IBA 16670092
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA,ISS --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with SIX1: view

Pathways & Interactions for SIX1 Gene

genes like me logo Genes that share pathways with SIX1: view

Pathways by source for SIX1 Gene

1 KEGG pathway for SIX1 Gene
1 Cell Signaling Technology pathway for SIX1 Gene

SIGNOR curated interactions for SIX1 Gene

Activates:

Gene Ontology (GO) - Biological Process for SIX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001657 ureteric bud development ISS,IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEA,ISS --
GO:0001759 organ induction ISS,IEA --
GO:0001822 kidney development ISS,IEA --
genes like me logo Genes that share ontologies with SIX1: view

Drugs & Compounds for SIX1 Gene

No Compound Related Data Available

Transcripts for SIX1 Gene

mRNA/cDNA for SIX1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIX1

Clone Products

  • Addgene plasmids for SIX1

Alternative Splicing Database (ASD) splice patterns (SP) for SIX1 Gene

No ASD Table

Relevant External Links for SIX1 Gene

GeneLoc Exon Structure for
SIX1

Expression for SIX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SIX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIX1 Gene

This gene is overexpressed in Muscle - Skeletal (x20.7) and Pituitary (x8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SIX1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SIX1

SOURCE GeneReport for Unigene cluster for SIX1 Gene:

Hs.633506

mRNA Expression by UniProt/SwissProt for SIX1 Gene:

Q15475-SIX1_HUMAN
Tissue specificity: Specifically expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for SIX1 Gene

  • Muscle(4.6)
  • Lung(3.8)
  • Eye(2.5)
  • Nervous system(2.5)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SIX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • face
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • thyroid
  • tongue
  • tooth
Thorax:
  • esophagus
  • heart
  • heart valve
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • femur
  • forearm
  • hip
  • lower limb
  • thigh
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with SIX1: view

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for SIX1 Gene

Orthologs for SIX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIX1 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SIX1 31 30
  • 94.48 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIX1 31
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Six1 17 31 30
  • 93.31 (n)
cow
(Bos Taurus)
Mammalia SIX1 31 30
  • 93.19 (n)
OneToMany
-- 31
  • 5 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Six1 30
  • 93.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SIX1 31
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIX1 31 30
  • 85.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIX1 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia six1 30
  • 78.4 (n)
Str.9229 30
African clawed frog
(Xenopus laevis)
Amphibia Six1 30
zebrafish
(Danio rerio)
Actinopterygii six1b 31 30
  • 77.46 (n)
OneToOne
Dr.27681 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.722 30
fruit fly
(Drosophila melanogaster)
Insecta so 31 32 30
  • 76.32 (n)
OneToMany
Six4 32
  • 62 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011695 30
  • 74.29 (n)
worm
(Caenorhabditis elegans)
Secernentea ceh-32 32
  • 56 (a)
ceh-34 32
  • 53 (a)
ceh-33 31 32
  • 44 (a)
OneToMany
ceh-35 32
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
ManyToMany
Cin.7135 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7135 30
Species where no ortholog for SIX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 SIX1 Gene

ENSEMBL:
Gene Tree for SIX1 (if available)
TreeFam:
Gene Tree for SIX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SIX1: view image

Paralogs for SIX1 Gene

Paralogs for SIX1 Gene

(6) SIMAP similar genes for SIX1 Gene using alignment to 3 proteins:

  • SIX1_HUMAN
  • G3V300_HUMAN
  • H0YK85_HUMAN
genes like me logo Genes that share paralogs with SIX1: view

Variants for SIX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SIX1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
680192 Likely Benign: not provided 60,649,234(-) G/A FIVE_PRIME_UTR_VARIANT
rs10144415 Benign: Branchiootorenal Spectrum Disorders; Nonsyndromic Hearing Loss, Dominant 60,645,949(-) G/C THREE_PRIME_UTR_VARIANT
rs104894478 Pathogenic: Branchiootic syndrome 3; Deafness, autosomal dominant 23; Melnick-Fraser syndrome; not provided. Branchiootic syndrome 3 (BOS3) [MIM:608389] 60,648,804(-) T/Cp.Tyr129Cys MISSENSE_VARIANT
rs1051653507 Uncertain Significance: Branchiootic syndrome 3; Deafness, autosomal dominant 23; not provided 60,648,999(-) C/T MISSENSE_VARIANT
rs1060499595 Likely Pathogenic: Branchiootic syndrome 3; Deafness, autosomal dominant 23 60,648,730(-) T/A NONSENSE

Additional dbSNP identifiers (rs#s) for SIX1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SIX1 Gene

Variant ID Type Subtype PubMed ID
nsv1295 CNV deletion 18451855
nsv564880 CNV gain 21841781
nsv564881 CNV gain 21841781
nsv819505 CNV gain 19587683
nsv952846 CNV deletion 24416366

Variation tolerance for SIX1 Gene

Residual Variation Intolerance Score: 30% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIX1 Gene

Human Gene Mutation Database (HGMD)
SIX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIX1 Gene

Disorders for SIX1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for SIX1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
branchiootic syndrome 3
  • bos3
deafness, autosomal dominant 23
  • dfna23
branchiootorenal syndrome 1
  • bor1
branchiootic syndrome
  • branchiootic syndrome 1
branchiootorenal syndrome
  • branchiootorenal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search SIX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SIX1_HUMAN
  • Deafness, autosomal dominant, 23 (DFNA23) [MIM:605192]: A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. {ECO:0000269 PubMed:15141091, ECO:0000269 PubMed:19497856, ECO:0000269 PubMed:23435380}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Branchiootic syndrome 3 (BOS3) [MIM:608389]: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. {ECO:0000269 PubMed:15141091, ECO:0000269 PubMed:17637804, ECO:0000269 PubMed:18330911, ECO:0000269 PubMed:19497856, ECO:0000269 PubMed:21280147, ECO:0000269 PubMed:23435380}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable. {ECO:0000305 PubMed:15141091, ECO:0000305 PubMed:19497856}.

Additional Disease Information for SIX1

genes like me logo Genes that share disorders with SIX1: view

No data available for Genatlas for SIX1 Gene

Publications for SIX1 Gene

  1. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. (PMID: 15141091) Ruf RG … Hildebrandt F (Proceedings of the National Academy of Sciences of the United States of America 2004) 2 3 4 23 54
  2. Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. (PMID: 19497856) Patrick AN … Ford HL (The Journal of biological chemistry 2009) 3 4 23 54
  3. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. (PMID: 18330911) Kochhar A … Smith RJ (Human mutation 2008) 3 4 23 54
  4. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. (PMID: 17637804) Sanggaard KM … Tranebjaerg L (European journal of human genetics : EJHG 2007) 3 4 23 54
  5. Cell cycle regulation of the human Six1 homeoprotein is mediated by APC(Cdh1). (PMID: 17130831) Christensen KL … Ford HL (Oncogene 2007) 3 4 23 54

Products for SIX1 Gene

Sources for SIX1 Gene