RIPK4

Chr 21

receptor interacting serine/threonine kinase 4

Also known as: ANKK2, ANKRD3, CHANDS, DIK, NKRD3, PKK, PPS2, RIP4

NCBI Gene: 54101 ENSG00000183421 UniProt: P57078

RIPK4 encodes a serine/threonine protein kinase that phosphorylates plakophilin-1 to promote keratinocyte differentiation and cell adhesion, playing an essential role in embryonic skin development and adult skin homeostasis. Autosomal recessive mutations cause CHAND syndrome and Bartsocas-Papas type 1 popliteal pterygium syndrome, both severe developmental disorders affecting skin, limbs, and other organ systems. The gene is highly intolerant to loss-of-function variants (LOEUF 0.594), reflecting its critical developmental role.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBartsocas-Papas syndrome

UniProtCHAND syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.59

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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