2. Gene
  3. KIDINS220 - kinase D interacting substrate 220 Gene

KIDINS220 - kinase D interacting substrate 220 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ARMS; SINO; VENARG

Gene ID: 57498 | Gene type: protein coding

About KIDINS220

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:8,721,081-8,837,613 (from NCBI)

This gene has 38 transcripts (splice variants), 272 orthologues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 28.9), ovary (RPKM 19.1) and 25 other tissues.

Summary

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]

KIDINS220 Products(14)

mRNA Protein Name
NM_001348729.2 NP_001335658.1 kinase D-interacting substrate of 220 kDa isoform 2
NM_001348731.2 NP_001335660.1 kinase D-interacting substrate of 220 kDa isoform 3
NM_001348732.2 NP_001335661.1 kinase D-interacting substrate of 220 kDa isoform 4
NM_001348734.2 NP_001335663.1 kinase D-interacting substrate of 220 kDa isoform 5
NM_001348735.2 NP_001335664.1 kinase D-interacting substrate of 220 kDa isoform 6
NM_001348736.2 NP_001335665.1 kinase D-interacting substrate of 220 kDa isoform 7
NM_001348738.2 NP_001335667.1 kinase D-interacting substrate of 220 kDa isoform 8
NM_001348739.2 NP_001335668.1 kinase D-interacting substrate of 220 kDa isoform 9
NM_001348740.2 NP_001335669.1 kinase D-interacting substrate of 220 kDa isoform 9
NM_001348741.2 NP_001335670.1 kinase D-interacting substrate of 220 kDa isoform 10
NM_001348742.2 NP_001335671.1 kinase D-interacting substrate of 220 kDa isoform 10
NM_001348743.2 NP_001335672.1 kinase D-interacting substrate of 220 kDa isoform 10
NM_001348745.2 NP_001335674.1 kinase D-interacting substrate of 220 kDa isoform 11
NM_020738.4 NP_065789.1 kinase D-interacting substrate of 220 kDa isoform 1

KIDINS220 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (13 - 101)

Ank

Ank: Ankyrin repeat (104 - 132)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (142 - 233)

Ank

Ank: Ankyrin repeat (235 - 266)

Ank

Ank: Ankyrin repeat (269 - 298)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (306 - 390)

KAP_NTPase

KAP_NTPase: KAP family P-loop domain (440 - 953)

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  • 1771 a.a.
Protein Preferred Names Protein Names

kinase D-interacting substrate of 220 kDa

ankyrin repeat-rich membrane-spanning protein

Related Diseases

Diseases Alias
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity

SINO

Sino Syndrome

Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity

Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly And Arthrogryposis

VENARG
Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed
Coffin-Siris Syndrome 9

Mrd27

CSS9

Mental Retardation, Autosomal Dominant 27

Autosomal Dominant Mental Retardation 27

Autosomal Dominant Non-Syndromic Intellectual Disability 27

Coffin-Siris Syndrome, Type 9
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas
Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07254 KIDINS220 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus KIDINS220 VGNC VGNC:81109
Mus musculus KIDINS220 MGD MGI:1924730
Bos taurus KIDINS220 VGNC VGNC:30579
Rattus norvegicus KIDINS220 RGD RGD:619949
Canis familiaris KIDINS220 VGNC VGNC:42378
Macaca mulatta KIDINS220 VGNC VGNC:73947