PLEKHA7

Chr 11p15

pleckstrin homology domain containing A7

Aliases:: DKFZp686M22243
MANE:: ENST00000531066.6

OMIM: 612686 ↗NCBI: 144100 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PLEKHA7 · Q6IQ23

v62025-08-01

Predicted Aligned Error matrix for PLEKHA7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

56.7/ 100

Low

1,121 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)15%
Low(50–70)8%
Very low(< 50)58%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

glaucoma
0.48
open-angle glaucoma
0.47
hypertensive disorder
0.46
cleft lip
0.41
alcohol drinking
0.40
primary angle-closure glaucoma
0.37
essential hypertension
0.36
Back pain
0.32
ovarian dysfunction
0.31
pyogenic granuloma
0.31

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

Protein function (UniProt)

Pleckstrin homology domain-containing family A member 7

Required for zonula adherens biogenesis and maintenance (PubMed:19041755). Acts via its interaction with CAMSAP3, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional site (PubMed:19041755). Mediates docking of ADAM10 to zonula adherens through a PDZD11-dependent interaction with the ADAM10-binding protein TSPAN33 (PubMed:30463011)