KIDINS220 Chromosome 2

Kinase D interacting substrate 220

81 variants 81 Health Risk

Upload your DNA to see your personal genotypes for variants in KIDINS220.

What This Gene Does

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]

Gene Info

Gene Group

Ankyrin repeat domain containing

Locus Type

gene with protein product

Location

2p25.1

Ensembl

ENSG00000134313

Associated Conditions (14)

Inborn genetic diseases

KIDINS220-related disorder

Nonpapillary renal cell carcinoma

Spastic paraplegia

intellectual disability

nystagmus

and obesity

Ventriculomegaly and arthrogryposis

Early onset severe obesity

Kabuki syndrome 1

Ovarian serous cystadenocarcinoma

Clear cell carcinoma of kidney

Cerebral palsy

KCNA1-related disorder

Key Variants

RS139252608

Conflicting classifications of pathogenicity

Inborn genetic diseases, KIDINS220-related disorder, Inborn genetic diseases

Health Risk

RS146753792

Conflicting classifications of pathogenicity

Inborn genetic diseases, KIDINS220-related disorder, Inborn genetic diseases

Health Risk

RS181372484

Conflicting classifications of pathogenicity

Inborn genetic diseases, KIDINS220-related disorder, Inborn genetic diseases

Health Risk

RS182521570

Conflicting classifications of pathogenicity

Health Risk

RS185330217

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS199536870

Conflicting classifications of pathogenicity

Health Risk

RS199682748

Conflicting classifications of pathogenicity

Health Risk

RS199962701

Conflicting classifications of pathogenicity

Inborn genetic diseases, KIDINS220-related disorder, Inborn genetic diseases

Health Risk

RS199990643

Conflicting classifications of pathogenicity

Health Risk

RS200081016

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS200104720

Conflicting classifications of pathogenicity

Inborn genetic diseases, Spastic paraplegia, intellectual disability

Health Risk

RS200846235

Conflicting classifications of pathogenicity

Inborn genetic diseases, KIDINS220-related disorder, Inborn genetic diseases

Health Risk

All Variants (81)

RSID	Category	Clinical Significance	Conditions
RS2147944830	Health Risk	Likely pathogenic	Cerebral palsy, Cerebral palsy
RS2147945457	Health Risk	Likely pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS2147947336	Health Risk	Likely pathogenic	KCNA1-related disorder, KCNA1-related disorder
RS2527407129	Health Risk	Likely pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS2527424311	Health Risk	Likely pathogenic	—
RS2527424387	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2527424554	Health Risk	Likely pathogenic	—
RS2527442444	Health Risk	Likely pathogenic	—
RS2527918499	Health Risk	Likely pathogenic	—
RS755294265	Health Risk	Likely pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS1034611870	Health Risk	Pathogenic	—
RS1057519300	Health Risk	Pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS1057519301	Health Risk	Pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS1057519302	Health Risk	Pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS1290411154	Health Risk	Pathogenic	—
RS1572403809	Health Risk	Pathogenic	—
RS1664428364	Health Risk	Pathogenic	—
RS1666821581	Health Risk	Pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS1673531830	Health Risk	Pathogenic	KIDINS220-related disorder, KIDINS220-related disorder
RS2147945425	Health Risk	Pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS2147946042	Health Risk	Pathogenic	—
RS2148046960	Health Risk	Pathogenic	Ventriculomegaly and arthrogryposis, Ventriculomegaly and arthrogryposis
RS2148246019	Health Risk	Pathogenic	Ventriculomegaly and arthrogryposis, Ventriculomegaly and arthrogryposis
RS2148397528	Health Risk	Pathogenic	Ventriculomegaly and arthrogryposis, Ventriculomegaly and arthrogryposis
RS2527403784	Health Risk	Pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS2527427721	Health Risk	Pathogenic	—
RS2527596188	Health Risk	Pathogenic	Ventriculomegaly and arthrogryposis, Ventriculomegaly and arthrogryposis
RS2527616848	Health Risk	Pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS1438054052	Health Risk	Pathogenic/Likely pathogenic	KIDINS220-related disorder, KIDINS220-related disorder
RS1664428695	Health Risk	Pathogenic/Likely pathogenic	Spastic paraplegia, intellectual disability, nystagmus
RS34141362	Health Risk	Pathogenic/Likely pathogenic	Spastic paraplegia, intellectual disability, nystagmus

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