NR6A1

Chr 9q33.3

nuclear receptor subfamily 6 group A member 1

Aliases:: GCNF1, RTR, CT150
MANE:: ENST00000487099.7

OMIM: 602778 ↗NCBI: 2649 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NR6A1 · Q15406

v62025-08-01

Predicted Aligned Error matrix for NR6A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.0/ 100

Confident

480 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)7%
Low(50–70)6%
Very low(< 50)26%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

oculovertebral syndrome
0.65
microphthalmia
0.39
coloboma
0.38
isolated anophthalmia-microphthalmia syndrome
0.27
urolithiasis
0.24
alcohol drinking
0.24
placental retention
0.24
Crohn disease
0.24
orofacial cleft
0.17
early-onset non-syndromic cataract
0.11

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

Protein function (UniProt)

Nuclear receptor subfamily 6 group A member 1

Orphan nuclear receptor that binds to a response element containing the sequence 5'-TCAAGGTCA-3' (PubMed:26769970). Acts as a regulator of embryonic stem cell pluripotency by mediating repression of POU5F1/OCT4: binds to the DR0 element within the POU5F1/OCT4 promoter and inhibits POU5F1/OCT4 expression during embryonic stem cell differentiation (PubMed:26769970). Involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity)