SIX2 (SIX homeobox 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 10736
Gene name SIX homeobox 2
Gene symbol SIX2
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p21
Summary This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila `sine oculis` homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs756635283 C>A,T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
miRTarBase ID miRNA Experiments Reference
MIRT438371 hsa-miR-181b-5p Luciferase reporter assayqRT-PCRWestern blot 24055707
MIRT438371 hsa-miR-181b-5p Luciferase reporter assayqRT-PCRWestern blot 24055707
MIRT438371 hsa-miR-181b-5p Luciferase reporter assayqRT-PCRWestern blot 24055707
MIRT438371 hsa-miR-181b-5p Luciferase reporter assayqRT-PCRWestern blot 24055707
MIRT1350379 hsa-miR-185 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (61)
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 IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604994 10888 ENSG00000170577
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPC8
Protein name Homeobox protein SIX2 (Sine oculis homeobox homolog 2)
Protein function Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16878 SIX1_SD 9 → 119 Transcriptional regulator, SIX1, N-terminal SD domain Domain
PF00046 Homeodomain 127 → 181 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in skeletal muscle. Expressed in Wilms' tumor and in the cap mesenchyme of fetal kidney (at protein level). {ECO:0000269|PubMed:22703800}.
Sequence 
MSMLPTFGFTQEQVACVCEVLQQGGNIERLGRFLWSLPACEHLHKNESVLKAKAVVAFHR
GNFRELYKILESHQFSPHNHAKLQQLWLKAHYIEAEKLRGRPLGAVGKYRVRRKFPLPRS
IWDGEETSYCFKEKSRSVLREWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDR
AAEAKERENNENSNSNSHNPLNGSGKSVLGSSEDEKTPSGTPDHSSSSPALLLSPPPPGL
PSLHSLGHPPGPSAVPVPVPGGGGADPLQHHHGLQDSILNPMSANLVDLGS
Sequence length 291
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Gene SNPs miRNA 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 Unknown Diseases (10)
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
AMYOTROPHIC LATERAL SCLEROSIS 1 — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAKUT — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract Uncertain significance ClinVar
GenCC
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Show/Hide Text Mining Associations (61)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27821176
★★★★★
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis CTD_human_DG 11796754
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis CTD_human_DG 11796754
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis CTD_human_DG 11796754
★★★★★
★☆☆☆☆
Found in Text Mining only
Bilateral Wilms Tumor Wilms tumor CTD_human_DG 28825729
★★★★★
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis BEFREE 27383657
★★★★★
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
BRANCHIOOTIC SYNDROME 3 (disorder) Branchiootic syndrome BEFREE 30905259
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25348955, 30606720
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31420918 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only