Gene Gene information from NCBI Gene database.
Entrez ID 147912
Gene name SIX homeobox 5
Gene symbol SIX5
Synonyms (NCBI Gene)
BOR2DMAHP
Chromosome 19
Chromosome location 19q13.32
Summary 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.
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 Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CTCF Unknown 11479593
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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.
MIM HGNC e!Ensembl
600963 10891 ENSG00000177045
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
GAVDKYRLRKKFPLPK
TIWDGEETVYCFKERSRAALKACYRGNRYPTPDEKRRLATLTGL
SLTQVSNWFKNRRQRDRT
GAGGGAPCKSESDGNPTTEDESSRSPEDLERGAAPVSAEAAA
QGSIFLAGTGPPAPCPASSSILVNGSFLAASGSPAVLLNGGPVIINGLALGEASSLGPLL
LTGGGGAPPPQPSPQGASETKTSLVLDPQTGEVRLEEAQSEAPETKGAQVAAPGPALGEE
VLGPLAQVVPGPPTAATFPLPPGPVPAVAAPQVVPLSPPPGYPTGLSPTSPLLNLPQVVP
TSQVVTLPQAVGPLQLLAAGPGSPVKVAAAAGPANVHLINSGVGVTALQLPSATAPGNFL
LANPVSGSPIVTGVALQQGKIILTATFPTSMLVSQVLPPAPGLALPLKPETAISVPEGGL
PVAPSPALPEAHALGTLSAQQPPPAAATTSSTSLPFSPDSPGLLPNFPAPPPEGLMLSPA
AVPVWSAGLELSAGTEGLLEAEKGLGTQAPHTVLRLPDPDPEGLLLGATAGGEVDEGLEA
EAKVLTQLQSVPVEEPLEL
Sequence length 739
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
121
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Branchiootorenal syndrome 2 Pathogenic rs80356463 RCV000009131
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SIX5-related disorder Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign rs752238132, rs372106524, rs372293937, rs760311721, rs747106145, rs764189203, rs751067755, rs899825113, rs753341384, rs80356462, rs1969057144, rs1424982690, rs372239517, rs1360502644, rs2513605497
View all (23 more)
RCV003948714
RCV003892836
RCV003892837
RCV003895903
RCV003953852
RCV003916494
RCV004753578
RCV003404002
RCV004753652
RCV004752693
RCV003404260
RCV003406097
RCV003417060
RCV003402402
RCV003397601
RCV003410472
RCV003414313
RCV003404409
RCV003901311
RCV003939186
RCV003956549
RCV003949064
RCV003896719
RCV003974244
RCV003899578
RCV003939458
RCV003954547
RCV003982086
RCV003915424
RCV003962753
RCV003947940
RCV003908121
RCV003940393
RCV003920502
RCV003908398
RCV003958258
RCV003933057
RCV003960388
Associations from Text MiningDisease associations identified through Pubtator
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