SRY

Chr Yp11.2

sex determining region Y

Aliases:: TDF
MANE:: ENST00000383070.2

OMIM: 480000 ↗NCBI: 6736 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SRY · Q05066

v62025-08-01

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

Mean pLDDT

67.6/ 100

Low

204 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)3%
Low(50–70)24%
Very low(< 50)36%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences in sex development
Other - please specifiy in evaluation comments
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
Other - please specifiy in evaluation comments

Disease associations (Open Targets)

46,XY sex reversal 1
0.82
46,XY complete gonadal dysgenesis
0.61
46,XX sex reversal 1
0.56
46,XX testicular disorder of sex development
0.40
46,XY partial gonadal dysgenesis
0.39
46,XX ovotesticular disorder of sex development
0.38
46,XY disorder of sex development
0.27
46,XY disorder of sex development due to isolated 17,20 lyase deficiency
0.08
acute respiratory distress syndrome
0.07
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
0.07

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

Protein function (UniProt)

Sex-determining region Y protein

Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911). It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (PubMed:16414182, PubMed:16996051). Involved in different aspects of gene regulation including promoter activation or repression (PubMed:9525897). Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3' (PubMed:11563911, PubMed:1425584, PubMed:15170344, PubMed:8159753, PubMed:8265659). SRY HMG box recognizes DNA by partial intercalation in the minor groove and promotes DNA bending (PubMed:11563911, PubMed:1425584, PubMed:15170344, PubMed:16762365, PubMed:8159753, PubMed:8265659). Also involved in pre-mRNA splicing (PubMed:11818535). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity)