AMHR2

Chr 12q13.13

anti-Mullerian hormone receptor type 2

Aliases:: MISR2, MISRII
MANE:: ENST00000257863.9

OMIM: 600956 ↗NCBI: 269 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AMHR2 · Q16671

v62025-08-01

Predicted Aligned Error matrix for AMHR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.6/ 100

Confident

573 residues

Confidence breakdown

Very high(≥ 90)45%
Confident(70–90)26%
Low(50–70)11%
Very low(< 50)19%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Differences in sex development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

persistent Mullerian duct syndrome
0.78
Persistent Müllerian duct syndrome
0.72
genetic non-acquired premature ovarian failure
0.44
neurodegenerative disease
0.35
Male pseudohermaphroditism
0.33
hereditary disease
0.19
testicular hydrocele
0.18
testicular disorder
0.15
smoking initiation
0.14
Premature ovarian insufficiency
0.11

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

Protein function (UniProt)

Anti-Muellerian hormone type-2 receptor

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone