PADI6

Chr 1p36.13

peptidyl arginine deiminase 6

MANE:: ENST00000619609.1

OMIM: 610363 ↗NCBI: 353238 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PADI6 · Q6TGC4

v62025-08-01

Predicted Aligned Error matrix for PADI6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.7/ 100

Confident

694 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)31%
Low(50–70)11%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Multi locus imprinting disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Monogenic short stature
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Segmental overgrowth disorders - Deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Disease associations (Open Targets)

Rare genetic female infertility
0.74
Beckwith-Wiedemann syndrome
0.42
skin neoplasm
0.41
cancer
0.38
basal cell carcinoma
0.35
skin cancer
0.33
placenta praevia
0.29
neurodegenerative disease
0.29
breast cancer
0.28
breast neoplasm
0.28

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

Protein function (UniProt)

Inactive protein-arginine deiminase type-6

Structural constituent of cytoplasmic lattices, which plays a key role in early embryonic development (PubMed:37922900). Cytoplasmic lattices consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (PubMed:37922900). They are required to store maternal proteins critical for embryonic development, such as ribosomal proteins and proteins that control epigenetic reprogramming of the preimplantation embryo, and prevent their degradation or activation (PubMed:37922900). In contrast to other members of the family, does not show protein-arginine deiminase activity due to its inability to bind Ca(2+) (PubMed:38656308, PubMed:39286527)