Gene
RFX6
regulatory factor X6
- HGNC 21478↗(opens in a new tab)
- Ensembl gene ENSG00000185002↗(opens in a new tab)
- NCBI Gene 222546↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q22.1
- Coordinates
- Chromosome 6: 116,877,242–116,932,161 (GRCh38)
- Exons
- 19 exons across 54.9 kb
- Protein
- 928 amino acids
- Also known as
- MGC33442, dJ955L16.1
- Previous symbols
- RFXDC1
- MANE Select transcript
- ENST00000332958.3NM_173560.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Diabetes Mellitus
A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems
How RFX6 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.5 kb of the gene's 54.9 kb; 2,787 of those bases code for the protein.
How a genome test reads RFX6
11
positions in RFX6 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 54.9 kb of RFX6, introns included, not only the 3.5 kb of exons.
Genes linked to the same conditions
- ABCC8ATP binding cassette subfamily C member 8Shares 1 condition
- AKT2AKT serine/threonine kinase 2Shares 1 condition
- APPL1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1Shares 1 condition
- BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 1 condition
- CELcarboxyl ester lipaseShares 1 condition
- EIF2B1eukaryotic translation initiation factor 2B subunit alphaShares 1 condition
- EIF2S3eukaryotic translation initiation factor 2 subunit gammaShares 1 condition
- GATA4GATA binding protein 4Shares 1 condition
- GATA6GATA binding protein 6Shares 1 condition
- GCKglucokinaseShares 1 condition
- GLIS3GLIS family zinc finger 3Shares 1 condition
- HNF1AHNF1 homeobox AShares 1 condition
Traits linked to RFX6
The Human Phenotype Ontology lists these as features of the rare conditions RFX6 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RFX6 gene: regulatory factor X6. Retrieved 17 October 2026, from https://dantelabs.com/genes/rfx6
Dante Labs. RFX6 gene: regulatory factor X6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rfx6
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