RFX6

Chr 6q22.1

regulatory factor X6

Aliases:: MGC33442, dJ955L16.1
MANE:: ENST00000332958.3

OMIM: 612659 ↗NCBI: 222546 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RFX6 · Q8HWS3

v62025-08-01

Predicted Aligned Error matrix for RFX6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.9/ 100

Low

928 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)16%
Low(50–70)6%
Very low(< 50)54%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Diabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomal
Familial diabetes
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes
BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
0.74
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
0.73
type 2 diabetes mellitus
0.61
diabetes mellitus
0.50
prostate carcinoma
0.47
monogenic diabetes
0.45
prostate cancer
0.42
gestational diabetes
0.39
neurodegenerative disease
0.35
Alzheimer disease
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA-binding protein RFX6

Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes (PubMed:20148032). Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription (PubMed:25497100)