KIDINS220 (kinase D interacting substrate 220)

2008-01-01  

Identity

HGNC
KIDINS220
LOCATION
2p25.1
LOCUSID
57498
ALIAS
ARMS,SINO
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/case-report-explorer/js/lib/deep-insight-explorer/