KIDINS220

Kinase D-interacting substrate of 220 kDa or ARMS (ankyrin repeat-rich membrane spanning) is a scaffold protein that in humans is encoded by the KIDINS220 gene.^[4][5][6]

KIDINS220
Identifiers
Aliases	KIDINS220, ARMS, kinase D-interacting substrate 220kDa
External IDs	OMIM: 615759; MGI: 1924730; HomoloGene: 14254; GeneCards: KIDINS220; OMA:KIDINS220 - orthologs
Gene location (Mouse) Chr. Chromosome 12 (mouse)[1] Band 12|12 A1.3 Start 25,024,924 bp[1] End 25,113,151 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in vestibular membrane of cochlear duct trigeminal ganglion neural layer of retina superior cervical ganglion otolith organ utricle Rostral migratory stream molar substantia nigra facial motor nucleus BioGPS More reference expression data
Gene ontology Molecular function protein kinase regulator activity PDZ domain binding Cellular component integral component of membrane cytosol late endosome endosome membrane protein-containing complex Biological process regulation of protein kinase activity cellular response to nerve growth factor stimulus in utero embryonic development dendrite morphogenesis nervous system development positive regulation of neuron projection development nerve growth factor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57498 77480 Ensembl ENSG00000134313 ENSMUSG00000036333 UniProt Q9ULH0 E9Q9B7 RefSeq (mRNA) NM_020738 NM_001081378 RefSeq (protein) NP_065789 NP_001335658 NP_001335660 NP_001335661 NP_001335663 NP_001335664 NP_001335665 NP_001335667 NP_001335668 NP_001335669 NP_001335670 NP_001335671 NP_001335672 NP_001335674 NP_001074847 Location (UCSC) n/a Chr 12: 25.02 – 25.11 Mb PubMed search [2] [3]
Wikidata
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It is a downstream target of neuronal signaling events initiated by neutrophins and ephrins. Additionally, it was shown to have important roles in the immune system by interacting with the B-cell and T-cell receptor.^[7][8]

Molecular biology

The gene is located on the short arm of chromosome 2 (2p25.1) on the Crick strand. It is 116,550 bases in length. It encodes a transmembrane protein that is preferentially expressed in the nervous system. The protein acts as a receptor for the CRKL-C3G complex. Binding this complex results in Rap1-dependent sustained ERK activation. This, in turn, interacts with several pathways the effects of which are under active investigation.

Clinical importance

Heterozygous mutations of this gene have been suggested as a cause of a syndrome consisting of spastic paraplegia, intellectual disability, nystagmus and obesity. Knock out mice with homozygous mutations have non-viable offspring with enlarged cerebral ventricles. A consanginous couple has been reported who suffered from repeated miscarriages in whom homozygous mutations of this gene were found.^[9] Post mortem showed enlarged cerebral ventricles and contracted limbs.