HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SIX5
SIX homeobox 5
Chromosome 19 Β· 19q13.32
NCBI Gene: 147912Ensembl: ENSG00000177045.11HGNC: HGNC:10891UniProt: Q8N196
34PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolnucleoplasmprotein bindingregulation of transcription by RNA polymerase IIBOR syndromeneurodegenerative diseasebranchio-oto-renal syndromeearly-onset non-syndromic cataract
✦AI Summary

SIX5 is a homeodomain transcription factor that functions as a developmental regulator involved in organogenesis, particularly in eye and muscle development 1. As a member of the Six4/5 family, SIX5 regulates transcription by binding specific DNA motifs and interacting with Eya protein cofactors 2. During human embryogenesis, SIX5 protein accumulates in myogenic cells and is translocated to nuclei during later myogenic differentiation stages, suggesting roles in differentiation rather than early myogenic activation 2. SIX5 is required for proper ventral body wall closure and abdominal muscle development, as evidenced by omphalocele formation in Six4/Six5 double-knockout mice, reflecting impaired growth and morphological changes in primary abdominal wall tissues 3. In ocular tissues, SIX5 is expressed in corneal epithelium, lens epithelium, ciliary body, retina, and sclera in adult eyes but not fetal eyes, implicating it in adult-onset cataract development in myotonic dystrophy 1. Recent single-cell analysis identified SIX5 as a putative transcriptional regulator of plasma cell maturation in tonsillar lymphoid tissue 4. Mutations in SIX5 cause branchiootorenal syndrome 2, highlighting its clinical importance in human developmental disorders.

Sources cited
1
SIX5 expression pattern in adult eye tissues (cornea, lens, ciliary body, retina, sclera) and role in myotonic dystrophy ocular pathology
PMID: 9949207
2
SIX5 protein accumulation during human embryogenesis and nuclear translocation during myogenic differentiation stages
PMID: 12500905
3
SIX4 and SIX5 requirement for ventral body wall closure and abdominal muscle development; omphalocele in double-knockout mice
PMID: 30237319
4
SIX5 identified as putative transcriptional regulator of plasma cell maturation in human tonsil
PMID: 38301653
5
UNC-39 (C. elegans SIX5 homolog) regulates cell motility and differentiation in mesodermal and ectodermal cells
PMID: 15282156
6
Drosophila D-Six4 (SIX5 homolog) required for muscle development and gonad development
PMID: 11470409
7
SIX5 mutations cause cataracts as transcription factor affecting lens development
PMID: 20090208
Disease Associationsβ“˜21
BOR syndromeOpen Targets
0.79Strong
neurodegenerative diseaseOpen Targets
0.48Moderate
branchio-oto-renal syndromeOpen Targets
0.37Weak
early-onset non-syndromic cataractOpen Targets
0.12Weak
Partial congenital cataractOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.11Weak
Cataract-microcornea syndromeOpen Targets
0.11Weak
early-onset nuclear cataractOpen Targets
0.11Weak
early-onset zonular cataractOpen Targets
0.11Weak
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.11Weak
pulverulent cataractOpen Targets
0.11Weak
cataract 35Open Targets
0.11Weak
isolated ectopia lentisOpen Targets
0.10Weak
cataract 13 with adult I phenotypeOpen Targets
0.10Weak
cataract 38Open Targets
0.10Weak
azoospermiaOpen Targets
0.09Suggestive
Posterior polar cataractOpen Targets
0.09Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.08Suggestive
Persistent pupillary membraneOpen Targets
0.08Suggestive
Anterior polar cataractOpen Targets
0.08Suggestive
Branchiootorenal syndrome 2UniProt
Pathogenic Variants2
NM_175875.5(SIX5):c.675C>A (p.Tyr225Ter)Likely pathogenic
Branchiootorenal syndrome 2
β˜†β˜†β˜†β˜†2024β†’ Residue 225
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg)Pathogenic
Branchiootorenal syndrome 2
β˜†β˜†β˜†β˜†2007β†’ Residue 365
View on ClinVar β†—
Related Genes
EYA1Protein interaction94%ZNF143Protein interaction91%DMPKProtein interaction86%DMWDProtein interaction86%CTCFProtein interaction84%EYA3Protein interaction83%
Tissue Expression6 tissues
Ovary
100%
Liver
41%
Lung
23%
Heart
19%
Brain
5%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SIX5EYA1ZNF143DMPKDMWDCTCFEYA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N196
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.51–1.08]
RankingsWhere SIX5 stands among ~20K protein-coding genes
  • #11,239of 20,598
    Most Researched34
  • #4,495of 5,498
    Most Pathogenic Variants2
  • #10,967of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedSIX5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
An atlas of cells in the human tonsil.
PMID: 38301653
Immunity Β· 2024
1.00
2
Mice doubly deficient in
PMID: 30237319
Dis Model Mech Β· 2018
0.90
3
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.
PMID: 9949207
Hum Mol Genet Β· 1999
0.80
4
UNC-39, the C. elegans homolog of the human myotonic dystrophy-associated homeodomain protein Six5, regulates cell motility and differentiation.
PMID: 15282156
Dev Biol Β· 2004
0.70
5
Six and Eya expression during human somitogenesis and MyoD gene family activation.
PMID: 12500905
J Muscle Res Cell Motil Β· 2002
0.60