KIDINS220 (kinase D interacting substrate 220)

2008-01-01  

Identity

HGNC
LOCATION
2p25.1
LOCUSID
ALIAS
ARMS,SINO
FUSION GENES

Other Information

Locus ID:

NCBI: 57498
MIM: 615759
HGNC: 29508
Ensembl: ENSG00000134313

Variants:

dbSNP: 57498
ClinVar: 57498
TCGA: ENSG00000134313
COSMIC: KIDINS220

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134313ENST00000256707Q9ULH0
ENSG00000134313ENST00000319688Q9ULH0
ENSG00000134313ENST00000459813H7C584
ENSG00000134313ENST00000473731Q9ULH0
ENSG00000134313ENST00000488729F8WAY8
ENSG00000134313ENST00000489024E9PH70
ENSG00000134313ENST00000496383H0Y8E4
ENSG00000134313ENST00000569008A0A1W2PPB7
ENSG00000134313ENST00000638224A0A1W2PPY4

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Neurotrophin signaling pathwayKEGGko04722
Neurotrophin signaling pathwayKEGGhsa04722
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Prolonged ERK activation eventsREACTOMER-HSA-169893
ARMS-mediated activationREACTOMER-HSA-170984

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
381486102024Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy.1
381486102024Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy.1
354373172022Phosphate dysregulation via the XPR1-KIDINS220 protein complex is a therapeutic vulnerability in ovarian cancer.18
354373172022Phosphate dysregulation via the XPR1-KIDINS220 protein complex is a therapeutic vulnerability in ovarian cancer.18
332058112021TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.7
339555192021Reduced kinase D‑interacting substrate of 220 kDa (Kidins220) in pancreatic cancer promotes EGFR/ERK signalling and disease progression.1
332058112021TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.7
339555192021Reduced kinase D‑interacting substrate of 220 kDa (Kidins220) in pancreatic cancer promotes EGFR/ERK signalling and disease progression.1
315775432020Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.3
326566332020Functional analysis of a novel fusion protein PAX5-KIDINS220 identified in a pediatric Ph-like ALL patient.2
329096762020Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.6
315775432020Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.3
326566332020Functional analysis of a novel fusion protein PAX5-KIDINS220 identified in a pediatric Ph-like ALL patient.2
329096762020Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.6
316303742019Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.11

Citation

Dessen P

KIDINS220 (kinase D interacting substrate 220)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/49984/css/meetings/cancer-prone-explorer/