Gene Gene information from NCBI Gene database.
Entrez ID 6495
Gene name SIX homeobox 1
Gene symbol SIX1
Synonyms (NCBI Gene)
BOS3DFNA23TIP39
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 limb development. Defects in this gene
miRNA miRNA information provided by mirtarbase database.
687
miRTarBase ID miRNA Experiments Reference
MIRT005550 hsa-miR-185-5p Luciferase reporter assayqRT-PCRQuantitative proteomic approachWestern blot 20603620
MIRT005550 hsa-miR-185-5p Luciferase reporter assayqRT-PCRQuantitative proteomic approachWestern blot 20603620
MIRT016461 hsa-miR-193b-3p Microarray 20304954
MIRT029669 hsa-miR-26b-5p Microarray 19088304
MIRT042949 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
125
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 16670092
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 15141091
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601205 10887 ENSG00000126778
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15475
Protein name Homeobox protein SIX1 (Sine oculis homeobox homolog 1)
Protein function Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (By similarity). Plays an important role in the development of several organs, including kidney, muscle and inner ear (By similari
PDB 4EGC
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: Specifically expressed in skeletal muscle.
Sequence
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHR
GNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPR
T
IWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDR
A
AEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGH
ARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS
Sequence length 284
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Transcriptional misregulation in cancer  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant nonsyndromic hearing loss Likely pathogenic rs2140241235 RCV001794854
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nonsyndromic hearing loss 23 Pathogenic; Likely pathogenic rs1303947821, rs1064794308, rs797044960, rs104894478, rs80356459, rs80356460, rs2502644085, rs1895003578, rs1060499595 RCV004794547
RCV002027546
RCV000190433
RCV000679883
RCV002512919
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Branchiootic syndrome Pathogenic rs104894478 RCV004719033
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Branchiootic syndrome 3 Likely pathogenic; Pathogenic rs2140241235, rs1064794308, rs863223330, rs797044960, rs104894478, rs80356459, rs80356460, rs121909770, rs2502644174, rs2502643915, rs2502644085, rs761906849, rs2502639357, rs1060499595, rs1895001312 RCV001568419
RCV002027546
RCV000201277
RCV001852527
RCV000008806
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BOR SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRANCHIO-OTO-RENAL SYNDROME CTD, ClinGen, Disgenet, GenCC
CTD, ClinGen, Disgenet, GenCC
CTD, ClinGen, Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Branchiootic syndrome 1 Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 31806659
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 31050834
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22190591, 25951369
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22190591
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 26473286
★☆☆☆☆
Found in Text Mining only
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT Anterior segment anomalies ORPHANET_DG 15141091
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30362537
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 32065213 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 26497896 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 28901379
★☆☆☆☆
Found in Text Mining only