SIX6 (SIX homeobox 6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 4990
Gene name SIX homeobox 6
Gene symbol SIX6
Synonyms (NCBI Gene)
MCOPCT2ODRMDOPTX2Six9
Chromosome 14
Chromosome location 14q23.1
Summary 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.
4
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.
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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 Transcription factors information provided by TRRUST V2 database.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
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
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 18836447
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606326 10892 ENSG00000184302
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Likely pathogenic; Pathogenic rs786205142, rs786204851, rs748077751 RCV000169773
RCV000169774
RCV001090165
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract Pathogenic rs1594631582 RCV000845583
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcornea Pathogenic rs1594631582 RCV000845583
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus Pathogenic rs1594631582 RCV000845583
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (13)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Anophthalmia-microphthalmia syndrome Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Anophthalmia/microphthalmia-esophageal atresia syndrome Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS OPTIC DISC, MACULAR ATROPHY, CHORIORETINOPATHY SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (82)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Accessory rib Accessory Rib HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 22848398
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27821176
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia BEFREE 20057906
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 23927372
★★★★★
★☆☆☆☆
Found in Text Mining only
Anophthalmos Syndromic microphthalmia BEFREE 10512683, 11746024
★★★★★
★☆☆☆☆
Found in Text Mining only
Anophthalmos Syndromic microphthalmia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anterior segment mesenchymal dysgenesis Anterior segment mesenchymal dysgenesis Pubtator 35693420 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 26497896 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only