KIDINS220

Chr 2

kinase D interacting substrate 220

Also known as: ARMS, SINO, VENARG

NCBI Gene: 57498 ENSG00000134313 UniProt: Q9ULH0

This gene encodes a transmembrane scaffold protein that controls neuronal survival, differentiation, and synaptic plasticity by mediating crosstalk between neurotrophin signaling and other intracellular pathways, including sustained ERK activation through Rap1-dependent mechanisms. Mutations cause a neurodevelopmental syndrome characterized by spastic paraplegia, intellectual disability, nystagmus, and obesity, as well as ventriculomegaly and arthrogryposis, with both autosomal dominant and autosomal recessive inheritance patterns reported.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia, intellectual disability, nystagmus, and obesity

UniProtVentriculomegaly and arthrogryposis

Clinical highlights

Gene-disease validity (ClinGen)

ventriculomegaly and arthrogryposis · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

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

0.35

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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