RFX7

Chr 15q21.3

regulatory factor X7

Aliases:: FLJ12994
MANE:: ENST00000559447.8

OMIM: 612660 ↗NCBI: 64864 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RFX7 · Q2KHR2

v62025-08-01

Predicted Aligned Error matrix for RFX7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

43.1/ 100

Very low

1,460 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)5%
Low(50–70)3%
Very low(< 50)83%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
0.76
neurodegenerative disease
0.56
prostate carcinoma
0.50
prostate cancer
0.42
hereditary disease
0.38
hypothyroidism
0.37
lysosomal storage disease
0.37
complex neurodevelopmental disorder
0.37
B-cell chronic lymphocytic leukemia
0.27
aging
0.27

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

Protein function (UniProt)

DNA-binding protein RFX7

Transcription factor (PubMed:29967452). Acts as a transcriptional activator by binding to promoter regions of target genes, such as PDCD4, PIK3IP1, MXD4, PNRC1, and RFX5 (PubMed:29967452, PubMed:34197623). Plays a role in natural killer (NK) cell maintenance and immunity (PubMed:29967452). May play a role in the process of ciliogenesis in the neural tube and neural tube closure (By similarity)