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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RFX6
regulatory factor X6
Chromosome 6 · 6q22.1
NCBI Gene: 222546Ensembl: ENSG00000185002.10HGNC: HGNC:21478UniProt: Q8HWS3
32PubMed Papers
21Diseases
0Drugs
36Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription cis-regulatory region bindingprotein bindingendocrine pancreas developmentpositive regulation of insulin secretion involved in cellular response to glucose stimulushypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndromeHypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrometype 2 diabetes mellitusprostate carcinoma
✦AI Summary

RFX6 is a transcription factor essential for pancreatic endocrine development and glucose homeostasis. As a master hub gene, RFX6 directs differentiation of four of five islet cell types—alpha, beta, delta, and epsilon cells—by acting downstream of NEUROG3 and forming heterodimers with RFX3 to bind X-box promoter elements and activate target genes 1. In beta cells specifically, RFX6 regulates genes controlling insulin secretion and L-type calcium channel expression, promoting glucose-stimulated insulin secretion 2. In alpha cells, RFX6 maintains expression of genes governing nutrient sensing, hormone processing, and glucagon secretion 3. RFX6 dysfunction underlies multiple diabetes forms: homozygous loss-of-function mutations cause neonatal diabetes with pancreatic hypoplasia through increased endocrine cell apoptosis and downregulation of endocrine differentiation genes 4; heterozygous mutations predispose to maturity-onset diabetes of the young (MODY) 5 and type 2 diabetes through RFX6 haploinsufficiency impairing beta cell maturation and insulin secretion without affecting beta cell number 6. Population-scale genetic analyses demonstrate that genetically predicted reduced RFX6 expression causally increases type 2 diabetes risk through altered beta cell chr6 architecture at diabetes-associated loci 7. Beyond endocrine function, RFX6 regulates intestinal patterning upstream of PDX1 8.

Sources cited
1
RFX6 directs islet cell differentiation by forming heterodimers with RFX3 and binding X-box promoter elements
PMID: 20148032
2
RFX6 promotes glucose-stimulated insulin secretion by activating insulin and L-type calcium channel genes
PMID: 25497100
3
RFX6 maintains expression of genes governing alpha-cell nutrient sensing, hormone processing, and glucagon secretion
PMID: 38064570
4
Homozygous RFX6 loss causes pancreatic hypoplasia through increased endocrine cell apoptosis and reduced endocrine differentiation gene expression
PMID: 39080045
5
RFX6 heterozygous mutations are associated with MODY diabetes
PMID: 36208030
6
RFX6 haploinsufficiency impairs beta cell maturation and insulin secretion, predisposing to type 2 diabetes
PMID: 38743124
7
Genetically predicted reduced RFX6 expression causally increases type 2 diabetes risk through altered beta cell chromatin architecture
PMID: 38049589
8
RFX6 regulates intestinal patterning upstream of PDX1
PMID: 38587174
Disease Associationsⓘ21
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndromeOpen Targets
0.74Strong
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndromeOpen Targets
0.73Strong
type 2 diabetes mellitusOpen Targets
0.62Moderate
prostate carcinomaOpen Targets
0.53Moderate
diabetes mellitusOpen Targets
0.50Moderate
prostate cancerOpen Targets
0.47Moderate
monogenic diabetesOpen Targets
0.45Moderate
gestational diabetesOpen Targets
0.39Weak
neurodegenerative diseaseOpen Targets
0.35Weak
subarachnoid hemorrhageOpen Targets
0.32Weak
brain compressionOpen Targets
0.32Weak
edemaOpen Targets
0.32Weak
Alzheimer diseaseOpen Targets
0.31Weak
HeadacheOpen Targets
0.30Weak
MODYOpen Targets
0.30Weak
maturity-onset diabetes of the youngOpen Targets
0.27Weak
chronic obstructive pulmonary diseaseOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
cancerOpen Targets
0.19Weak
placental retentionOpen Targets
0.15Weak
Mitchell-Riley syndromeUniProt
Pathogenic Variants36
NM_173560.4(RFX6):c.541C>T (p.Arg181Trp)Pathogenic
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome|not provided
★★☆☆2025→ Residue 181
NM_173560.4(RFX6):c.1153C>T (p.Arg385Ter)Pathogenic
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome|not provided
★★☆☆2025→ Residue 385
NM_173560.4(RFX6):c.2037del (p.Thr680fs)Pathogenic
not provided
★☆☆☆2026→ Residue 680
NM_173560.4(RFX6):c.842dup (p.Asn281fs)Pathogenic
not provided
★☆☆☆2026→ Residue 281
NM_173560.4(RFX6):c.2176C>T (p.Arg726Ter)Pathogenic
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome|not provided
★☆☆☆2025→ Residue 726
NM_173560.4(RFX6):c.1465A>T (p.Lys489Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 489
NM_173560.4(RFX6):c.1519del (p.Met507fs)Pathogenic
not provided
★☆☆☆2025→ Residue 507
NM_173560.4(RFX6):c.1573C>T (p.Arg525Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 525
NM_173560.4(RFX6):c.1513C>T (p.Arg505Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 505
NM_173560.4(RFX6):c.872dup (p.Leu291fs)Likely pathogenic
not provided
★☆☆☆2024→ Residue 291
NM_173560.4(RFX6):c.1954C>T (p.Arg652Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 652
NM_173560.4(RFX6):c.245del (p.Asn82fs)Pathogenic
not provided
★☆☆☆2024→ Residue 82
NM_173560.4(RFX6):c.2156del (p.Pro719fs)Pathogenic
not provided
★☆☆☆2024→ Residue 719
NM_173560.4(RFX6):c.619del (p.Val207fs)Likely pathogenic
not provided
★☆☆☆2024→ Residue 207
NM_173560.4(RFX6):c.609T>G (p.Tyr203Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 203
NM_173560.4(RFX6):c.1652T>G (p.Leu551Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 551
NM_173560.4(RFX6):c.542G>A (p.Arg181Gln)Likely pathogenic
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome|RFX6-related disorder
★☆☆☆2023→ Residue 181
NM_173560.4(RFX6):c.886C>T (p.Gln296Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 296
NM_173560.4(RFX6):c.781-1G>ALikely pathogenic
RFX6-related disorder
★☆☆☆2023
NM_173560.4(RFX6):c.872T>A (p.Leu291Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 291
View on ClinVar ↗
Related Genes
INSProtein interaction95%ONECUT1Protein interaction90%NKX6-1Protein interaction90%PAX4Protein interaction90%PPYProtein interaction90%NEUROG3Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
67%
Lung
67%
Ovary
67%
Liver
0%
Heart
0%
Gene Interaction Network
Click a node to explore
RFX6INSONECUT1NKX6-1PAX4PPYNEUROG3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8HWS3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.39–0.69]
RankingsWhere RFX6 stands among ~20K protein-coding genes
  • #11,599of 20,598
    Most Researched32
  • #1,661of 5,498
    Most Pathogenic Variants36
  • #5,236of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedRFX6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic risk converges on regulatory networks mediating early type 2 diabetes.
PMID: 38049589
Nature · 2023
1.00
2
RFX6 Maintains Gene Expression and Function of Adult Human Islet α-Cells.
PMID: 38064570
Diabetes · 2024
0.90
3
RFX6 regulates human intestinal patterning and function upstream of PDX1.
PMID: 38587174
Development · 2024
0.80
4
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
PMID: 36208030
Endocrinol Diabetes Metab · 2022
0.70
5
Deletion of RFX6 impairs iPSC-derived islet organoid development and survival, with no impact on PDX1
PMID: 39080045
Diabetologia · 2024
0.60