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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
Branchiootorenal syndrome 2 Pathogenic rs80356463 RCV000009131
★★★★☆
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BOR SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRANCHIO-OTO-RENAL SYNDROME CTD, ClinGen, Disgenet, GWAS catalog
CTD, ClinGen, Disgenet, GWAS catalog
CTD, ClinGen, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Diseases Autoimmune Diseases BEFREE 8200991
★☆☆☆☆
Found in Text Mining only
BOR syndrome BOR Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Branchio-Oculo-Facial Syndrome Branchiooculofacial Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Branchio-Oto-Renal Syndrome Branchiootorenal Syndrome CLINGEN_DG 10802667, 10802668, 11950062, 14704431, 17357085, 24429398
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Branchio-Oto-Renal Syndrome Branchiootorenal Syndrome BEFREE 17357085, 22447252, 23840632
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Branchio-Oto-Renal Syndrome Branchiootorenal Syndrome LHGDN 17357085
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Branchio-Oto-Renal Syndrome Branchiootorenal Syndrome CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Branchioma Branchioma HPO_DG
★☆☆☆☆
Found in Text Mining only
Branchiootorenal Syndrome 1 Melnick-Fraser syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Branchiootorenal Syndrome 2 Branchiootorenal Syndrome UNIPROT_DG 17357085
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)