GCM2

Chr 6p24.2

GCM transcription factor 2

Aliases:: hGCMb
MANE:: ENST00000379491.5

OMIM: 603716 ↗NCBI: 9247 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GCM2 · O75603

v62025-08-01

Predicted Aligned Error matrix for GCM2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.5/ 100

Low

506 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)6%
Low(50–70)5%
Very low(< 50)62%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial hyperparathyroidism or hypocalciuric hypercalcaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial hypoparathyroidism
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

hypoparathyroidism, familial isolated, 2
0.72
hyperparathyroidism 4
0.71
Familial isolated hypoparathyroidism
0.62
neurodegenerative disease
0.53
familial hypoparathyroidism
0.50
hypoparathyroidism, familial isolated 1
0.48
hyperparathyroidism
0.47
parathyroid gland disorder
0.46
Hypercalcemia
0.43
familial isolated hyperparathyroidism
0.39

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

Protein function (UniProt)

Chorion-specific transcription factor GCMb

Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development