RIPK4

Chr 21q22.3

receptor interacting serine/threonine kinase 4

Aliases:: DIK, ANKK2, RIP4, PKK
MANE:: ENST00000332512.8

OMIM: 605706 ↗NCBI: 54101 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

RIPK4 · P57078

v62025-08-01

Predicted Aligned Error matrix for RIPK4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.9/ 100

Confident

832 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)24%
Low(50–70)5%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Bartsocas-Papas syndrome 1
0.78
CHAND syndrome
0.59
ectodermal dysplasia syndrome
0.37
atrial fibrillation
0.30
alcohol drinking
0.29
alopecia areata
0.28
self-injurious ideation
0.28
Alzheimer disease
0.25
multiple sclerosis
0.25
lysosomal storage disease
0.25

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

Protein function (UniProt)

Receptor-interacting serine/threonine-protein kinase 4

Serine/threonine protein kinase (By similarity). Required for embryonic skin development and correct skin homeostasis in adults, via phosphorylation of PKP1 and subsequent promotion of keratinocyte differentiation and cell adhesion (By similarity). It is a direct transcriptional target of TP63 (PubMed:22197488). Plays a role in NF-kappa-B activation (PubMed:12446564)