EuRBPDB

Description

Ensembl ID: ENSG00000134313 (Gene tree)
Gene ID: 57498
Gene Symbol: KIDINS220
Alias: ARMS
Full Name: kinase D interacting substrate 220
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 116,550 bases
Position: chr2:8,721,081-8,837,630
Accession: 29508
RBP type: non-canonical RBP
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]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & Hela	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000496383	KIDINS220-210	3220	-	ENSP00000420364	1057 (aa)	-	H0Y8E4
ENST00000474782	KIDINS220-207	748	-	-	- (aa)	-	-
ENST00000488729	KIDINS220-208	5988	-	ENSP00000417390	36 (aa)	-	F8WAY8
ENST00000256707	KIDINS220-201	7361	-	ENSP00000256707	1771 (aa)	-	Q9ULH0
ENST00000471685	KIDINS220-205	593	-	-	- (aa)	-	-
ENST00000489024	KIDINS220-209	4084	-	ENSP00000419964	1305 (aa)	-	E9PH70
ENST00000496725	KIDINS220-211	562	-	-	- (aa)	-	-
ENST00000471275	KIDINS220-204	598	-	-	- (aa)	-	-
ENST00000638224	KIDINS220-213	806	-	ENSP00000491810	269 (aa)	-	A0A1W2PPY4
ENST00000459813	KIDINS220-203	2036	-	ENSP00000419232	151 (aa)	-	H7C584
ENST00000569008	KIDINS220-212	8735	-	ENSP00000491461	1316 (aa)	-	A0A1W2PPB7
ENST00000473731	KIDINS220-206	7248	-	ENSP00000418974	1752 (aa)	-	Q9ULH0
ENST00000319688	KIDINS220-202	3765	-	ENSP00000319947	1031 (aa)	-	Q9ULH0

Gene Model

Pathways

Pathway ID	Pathway Name	Source
hsa04722	Neurotrophin signaling pathway	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000134313	Basophils	9.6960000E-005	-
ENSG00000134313	Urine	4.1411632E-005	-
ENSG00000134313	Platelet Function Tests	5.2100000E-006	-
ENSG00000134313	Platelet Function Tests	7.5400000E-006	-
ENSG00000134313	Platelet Function Tests	1.8263700E-005	-
ENSG00000134313	Platelet Function Tests	1.7200000E-006	-
ENSG00000134313	Platelet Function Tests	1.8773600E-005	-
ENSG00000134313	Platelet Function Tests	1.1400000E-006	-
ENSG00000134313	Platelet Function Tests	2.1434900E-005	-
ENSG00000134313	Platelet Function Tests	3.4400000E-007	-
ENSG00000134313	Platelet Function Tests	6.8600000E-008	-
ENSG00000134313	Platelet Function Tests	2.7000000E-006	-
ENSG00000134313	Platelet Function Tests	1.7400000E-006	-
ENSG00000134313	Platelet Function Tests	8.5900000E-006	-
ENSG00000134313	Platelet Function Tests	6.7900000E-006	-
ENSG00000134313	Platelet Function Tests	6.2300000E-006	-
ENSG00000134313	Platelet Function Tests	2.0852400E-005	-
ENSG00000134313	Platelet Function Tests	5.7300000E-006	-
ENSG00000134313	Platelet Function Tests	2.8000000E-006	-
ENSG00000134313	Neutrophils	2E-7	21507922

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	EFO ID
ENSG00000134313	rs74885319	2	8728387	?	Tenofovir clearance in HIV infection	26148204	EFO_0009279\|EFO_0000764
ENSG00000134313	rs61742863	2	8736912	?	Tenofovir clearance in HIV infection	26148204	EFO_0009279\|EFO_0000764
ENSG00000134313	rs72786317	2	8739425	?	Tenofovir clearance in HIV infection	26148204	EFO_0009279\|EFO_0000764
ENSG00000134313	rs7587928	2	8808940	?	Neutrophil count	21507922	EFO_0004833

Protein-Protein Interaction (PPI)

* RBP PPI network refers to all genes directly bind to RBP

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000186	activation of MAPKK activity	-	TAS	Process
GO:0001701	in utero embryonic development	-	IEA	Process
GO:0005770	late endosome	-	ISS	Component
GO:0005829	cytosol	-	TAS	Component
GO:0010976	positive regulation of neuron projection development	-	ISS	Process
GO:0016020	membrane	19946888.	HDA	Component
GO:0016021	integral component of membrane	-	IEA	Component
GO:0019887	protein kinase regulator activity	21873635.	IBA	Function
GO:0030165	PDZ domain binding	21873635.	IBA	Function
GO:0030165	PDZ domain binding	-	ISS	Function
GO:0032991	protein-containing complex	-	ISS	Component
GO:0038180	nerve growth factor signaling pathway	21873635.	IBA	Process
GO:0038180	nerve growth factor signaling pathway	-	ISS	Process
GO:0048813	dendrite morphogenesis	-	IEA	Process
GO:1990090	cellular response to nerve growth factor stimulus	-	ISS	Process