SIX5 (SIX homeobox 5)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
147912
Gene name Gene Name - the full gene name approved by the HGNC.
SIX homeobox 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIX5
Synonyms (NCBI Gene) Gene synonyms aliases
BOR2, DMAHP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BOR2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a ca
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(328)
miRTarBase ID miRNA Experiments Reference
MIRT029180 hsa-miR-26b-5p Microarray 19088304
MIRT653770 hsa-miR-6769a-3p HITS-CLIP 23824327
MIRT653769 hsa-miR-6832-3p HITS-CLIP 23824327
MIRT653768 hsa-miR-6811-3p HITS-CLIP 23824327
MIRT653767 hsa-miR-3657 HITS-CLIP 23824327
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
CTCF Unknown 11479593
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
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: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
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600963 10891 ENSG00000177045
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N196
Protein name Homeobox protein SIX5 (DM locus-associated homeodomain protein) (Sine oculis homeobox homolog 5)
Protein function Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'-TC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16878 SIX1_SD 86 → 196 Transcriptional regulator, SIX1, N-terminal SD domain Domain
PF00046 Homeodomain 206 → 258 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adult but not in fetal eyes. Found in corneal epithelium and endothelium, lens epithelium, ciliary body epithelia, cellular layers of the retina and the sclera. {ECO:0000269|PubMed:9949207}.
Sequence 
MATLPAEPSAGPAAGGEAVAAAAATEEEEEEARQLLQTLQAAEGEAAAAAGAGAGAAAAG
AEGPGSPGVPGSPPEAASEPPTGLRFSPEQVACVCEALLQAGHAGRLSRFLGALPPAERL
RGSDPVLRARALVAFQRGEYAELYRLLESRPFPAAHHAFLQDLYLRARYHEAERARGRAL
GAVDKYRLRKKFPLPKTIWDGEETVYCFKERSRAALKACYRGNRYPTPDEKRRLATLTGL
SLTQVSNWFKNRRQRDRTGAGGGAPCKSESDGNPTTEDESSRSPEDLERGAAPVSAEAAA
QGSIFLAGTGPPAPCPASSSILVNGSFLAASGSPAVLLNGGPVIINGLALGEASSLGPLL
LTGGGGAPPPQPSPQGASETKTSLVLDPQTGEVRLEEAQSEAPETKGAQVAAPGPALGEE
VLGPLAQVVPGPPTAATFPLPPGPVPAVAAPQVVPLSPPPGYPTGLSPTSPLLNLPQVVP
TSQVVTLPQAVGPLQLLAAGPGSPVKVAAAAGPANVHLINSGVGVTALQLPSATAPGNFL
LANPVSGSPIVTGVALQQGKIILTATFPTSMLVSQVLPPAPGLALPLKPETAISVPEGGL
PVAPSPALPEAHALGTLSAQQPPPAAATTSSTSLPFSPDSPGLLPNFPAPPPEGLMLSPA
AVPVWSAGLELSAGTEGLLEAEKGLGTQAPHTVLRLPDPDPEGLLLGATAGGEVDEGLEA
EAKVLTQLQSVPVEEPLEL
Sequence length 739
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Branchiooculofacial syndrome Branchio-Oculo-Facial Syndrome rs121909196, rs121909574, rs121909575, rs267607108, rs151344525, rs793888540, rs793888541, rs151344530, rs1554110735, rs1554110673, rs1554110994, rs151344531, rs151344528, rs1554111717, rs1554111734
View all (5 more)
Branchiootorenal syndrome Branchio-Oto-Renal Syndrome, Branchiootorenal Syndrome 2 rs80356463 10802668, 10802667, 17357085, 24429398, 14704431, 11950062, 9949207
Melnick-fraser syndrome Branchiootorenal Syndrome 1 rs121909195, rs606231355, rs121909196, rs121909200, rs121909201, rs869025180, rs121909202, rs606231357, rs1131691667, rs1481254965, rs200164773, rs1554541834, rs1554615511, rs1554615536, rs1554596461
View all (19 more)
Renal insufficiency Renal Insufficiency rs1596536873
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Renal dysplasia Renal Cell Dysplasia, Renal dysplasia ClinVar
Branchiootorenal Syndrome branchio-oto-renal syndrome GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining
Disease Name Relationship Type References
Adrenal Insufficiency Associate 26190529
Branchio Oto Renal Syndrome Associate 17357085, 19215039, 23840632, 35545373
Cakut Associate 24429398
Coronary Artery Disease Associate 27864399
Hearing Loss Associate 35709191
Myotonic Dystrophy Associate 26190529, 28211918
Nonsyndromic Deafness Associate 35709191
Obesity Associate 26449484