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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 (Kinase D Interacting Substrate 220) is a Protein Coding gene. Diseases associated with KIDINS220 include Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity and Frontal Sinusitis. Among its related pathways are Signaling by GPCR and RET signaling. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and protein kinase regulator activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0019887 | protein kinase regulator activity | IBA | 21873635 |
GO:0030165 | PDZ domain binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005768 | endosome | IEA | -- |
GO:0005770 | late endosome | ISS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling | ||
2 | Development HGF signaling pathway | ||
3 | Signaling by GPCR | ||
4 | Brain-Derived Neurotrophic Factor (BDNF) signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000186 | activation of MAPKK activity | TAS | -- |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0010976 | positive regulation of neuron projection development | ISS | -- |
GO:0038180 | nerve growth factor signaling pathway | ISS | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: |
ExUns: | 20a | · | 20b | ^ | 21a | · | 21b | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27a | · | 27b | · | 27c | ^ | 28 | ^ | 29a | · | 29b | ^ | 30a | · | 30b | ^ | 31a | · | 31b | ^ | 32a | · | 32b | · | 32c | ^ | 33a | · | 33b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: |
ExUns: | 33c | ^ | 34 |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: | |||
SP10: | |||
SP11: | |||
SP12: | |||
SP13: | |||
SP14: | |||
SP15: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KIDINS220 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KIDINS220 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KIDINS220 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KIDINS220 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KIDINS220 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kidins220 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kidins220 30 |
|
||
Chicken (Gallus gallus) |
Aves | KIDINS220 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KIDINS220 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kidins220 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14036 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kidins220a 31 |
|
OneToMany | |
kidins220b 30 31 |
|
OneToMany | |||
wufj35h03 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG42672 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012141 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | tag-144 30 |
|
||
F36H1.2 32 |
|
|
|||
kdin-1 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710541 | Likely Benign: not provided | 8,751,584(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
712498 | Likely Benign: not provided | 8,747,148(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
712924 | Likely Benign: not provided | 8,750,203(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
713267 | Benign: not provided | 8,785,753(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
713451 | Benign: not provided | 8,796,801(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2585545 | CNV | deletion | 19546169 |
nsv1008207 | CNV | loss | 25217958 |
nsv1126539 | CNV | deletion | 24896259 |
nsv1138746 | CNV | deletion | 24896259 |
nsv833359 | CNV | loss | 17160897 |
nsv961016 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia, intellectual disability, nystagmus, and obesity |
|
|
frontal sinusitis |
|
|
chronic frontal sinusitis |
|
|
paraplegia |
|
|
urethral diverticulum |
|
|