PLAG1

Chr 8q12.1

PLAG1 zinc finger

Aliases:: ZNF912
MANE:: ENST00000316981.8

OMIM: 603026 ↗NCBI: 5324 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PLAG1 · Q6DJT9

v62025-08-01

Predicted Aligned Error matrix for PLAG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

55.8/ 100

Low

500 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)34%
Low(50–70)11%
Very low(< 50)55%

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
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic short stature
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Silver Russell syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

silver-russell syndrome 4
0.71
Silver-Russell syndrome
0.62
neurodegenerative disease
0.46
Abnormality of the skeletal system
0.43
lipoblastoma
0.38
Salivary Gland Pleomorphic Adenoma
0.37
salivary gland carcinoma ex pleomorphic adenoma
0.37
carcinoma of liver and intrahepatic biliary tract
0.37
salivary gland adenoid cystic carcinoma
0.37
ovarian endometrioid adenocarcinoma with squamous differentiation
0.37

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

Protein function (UniProt)

Zinc finger protein PLAG1

Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukemia