SIX6 (SIX homeobox 6)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4990
Gene name Gene Name - the full gene name approved by the HGNC.
SIX homeobox 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIX6
Synonyms (NCBI Gene) Gene synonyms aliases
MCOPCT2, ODRMD, OPTX2, Six9
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ODRMD
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.1
Summary Summary of gene provided in NCBI Entrez 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 eye development. Defects in this gene a
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs146737847 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs786204851 T>C Pathogenic Coding sequence variant, missense variant
rs786205142 AACCG>- Pathogenic, likely-pathogenic Frameshift variant, coding sequence variant
rs1594631582 G>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(50)
miRTarBase ID miRNA Experiments Reference
MIRT016717 hsa-miR-335-5p Microarray 18185580
MIRT025083 hsa-miR-181a-5p Microarray 17612493
MIRT647452 hsa-miR-1250-3p HITS-CLIP 23824327
MIRT647451 hsa-miR-153-5p HITS-CLIP 23824327
MIRT647450 hsa-miR-6887-3p HITS-CLIP 23824327
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
NKX3-1 Unknown 22848398
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 18836447
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606326 10892 ENSG00000184302
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID O95475
Protein name Homeobox protein SIX6 (Homeodomain protein OPTX2) (Optic homeobox 2) (Sine oculis homeobox homolog 6)
Protein function May be involved in eye development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16878 SIX1_SD 9 → 123 Transcriptional regulator, SIX1, N-terminal SD domain Domain
PF00046 Homeodomain 129 → 185 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.
Sequence
Sequence length 246
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (19)
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome rs786205142, rs786204851, rs748077751
Congenital ocular coloboma Congenital ocular coloboma (disorder) rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Specific learning disorder Specific learning disability ClinVar
Retinal Dystrophy inherited retinal dystrophy GenCC
Show/Hide Text Mining Associations (21)
Associations from Text Mining
Disease Name Relationship Type References
Anterior segment mesenchymal dysgenesis Associate 35693420
Astrocytoma Associate 26497896
Branchio Oto Renal Syndrome Associate 18666230
Cataract Associate 29692399, 35693420
Cataract microcornea syndrome Associate 35693420
Coloboma Associate 20057906, 35693420
Corneal Diseases Associate 35693420
Exfoliation Syndrome Associate 36596020
Eye Diseases Hereditary Associate 35693420
Glaucoma Associate 25537207, 28663559, 30005032, 32719476, 38241218