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Aliases for KIDINS220 Gene

Aliases for KIDINS220 Gene

  • Kinase D Interacting Substrate 220 2 3 5
  • Ankyrin Repeat-Rich Membrane-Spanning Protein 2 3 4
  • Kinase D-Interacting Substrate 220kDa 2 3
  • ARMS 3 4
  • Kinase D-Interacting Substrate Of 220 KDa 3
  • KIAA1250 4
  • SINO 3

External Ids for KIDINS220 Gene

Previous GeneCards Identifiers for KIDINS220 Gene

  • GC02U990270
  • GC02M008920
  • GC02M008890
  • GC02M008819
  • GC02M008786
  • GC02M008865

Summaries for KIDINS220 Gene

Entrez Gene Summary for KIDINS220 Gene

  • 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]

GeneCards Summary for KIDINS220 Gene

KIDINS220 (Kinase D Interacting Substrate 220) is a Protein Coding gene. Diseases associated with KIDINS220 include Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity and Urethral Diverticulum. Among its related pathways are RET signaling and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. GO annotations related to this gene include PDZ domain binding and protein kinase regulator activity. An important paralog of this gene is ANKHD1.

UniProtKB/Swiss-Prot for KIDINS220 Gene

  • Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in neurotrophin- and ephrin-mediated neuronal outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway.

Gene Wiki entry for KIDINS220 Gene

Additional gene information for KIDINS220 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIDINS220 Gene

Genomics for KIDINS220 Gene

Regulatory Elements for KIDINS220 Gene

Enhancers for KIDINS220 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H008597 1.6 Ensembl ENCODE dbSUPER 11.1 +238.6 238599 3 PKNOX1 ARNT YBX1 DMAP1 ZNF766 FOS SP5 SMARCA4 NBN KDM1A CPSF3 KIDINS220 ENSG00000239300 SNRPEP5 GC02M008597
GH02H009317 1.1 Ensembl ENCODE dbSUPER 11.1 -481.3 -481340 1 ZSCAN26 NFIB ZNF473 NR2F2 ZNF148 NFIC ZFHX2 FOXK2 CPSF3 ASAP2 LOC101929882 KIDINS220 ENSG00000239300 ITGB1BP1 GC02M009313
GH02H008836 1 ENCODE 7.5 +0.4 394 2 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ETS1 ZNF143 MBOAT2 KIDINS220 LOC100216337
GH02H008455 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.8 +380.1 380139 4 FOXA2 MAFG REST RAD21 FOXA1 YY1 ZNF316 MAFF ZNF24 HNF4A ID2 ID2-AS1 KIDINS220 LINC00299 ENSG00000231435
GH02H008533 1.9 FANTOM5 Ensembl ENCODE dbSUPER 1.3 +300.1 300138 7 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 YY1 TCF12 ZNF766 GATA2 FOS ID2 ID2-AS1 KIDINS220 ENSG00000231435 LINC00299
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIDINS220 on UCSC Golden Path with GeneCards custom track

Promoters for KIDINS220 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000112480 530 1801 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ETS1 ZNF143

Genomic Location for KIDINS220 Gene

Chromosome:
2
Start:
8,721,081 bp from pter
End:
8,837,630 bp from pter
Size:
116,550 bases
Orientation:
Minus strand

Genomic View for KIDINS220 Gene

Genes around KIDINS220 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIDINS220 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIDINS220 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIDINS220 Gene

Proteins for KIDINS220 Gene

  • Protein details for KIDINS220 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULH0-KDIS_HUMAN
    Recommended name:
    Kinase D-interacting substrate of 220 kDa
    Protein Accession:
    Q9ULH0
    Secondary Accessions:
    • A1L4N4
    • Q4VC08
    • Q6MZU2
    • Q9H889
    • Q9H9E4
    • Q9NT37
    • Q9UF42

    Protein attributes for KIDINS220 Gene

    Size:
    1771 amino acids
    Molecular mass:
    196542 Da
    Quaternary structure:
    • Interacts with NTRK1, NTRK2, NTRK3, ERKL and NGFR. Can form a ternary complex with NGFR and NTRK1 and this complex is affected by the expression levels of KIDINS220/ARMS. An increase in KIDINS220/ARMS expression leads to a decreased association of NGFR and NTRK1. Interacts with SNTA1 and SNTB2 and binds to their PDZ domains. Interacts with EPHA4 and PRKD1 (By similarity). Found in a complex, at least composed of KIDINS220, MAGI2, NTRK1 and RAPGEF2; the complex is mainly formed at late endosomes in a nerve growth factor (NGF)-dependent manner (By similarity). Interacts with RAPGEF2; the interaction is strengthened after NGF stimulation (By similarity). Interacts (via C-terminal domain) with MAGI2 (via PDZ domain) (By similarity).
    SequenceCaution:
    • Sequence=BAA86564.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14728.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KIDINS220 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIDINS220 Gene

Post-translational modifications for KIDINS220 Gene

  • Tyrosine phosphorylated by NTRK1, NTRK2, EPHB2 and EPHA4. Phosphorylation at Ser-918 is induced by phorbol ester treatment. Phosphorylation by NTRK2 is induced by brain-derived neurotrophic factor (BDNF) and neurotrophin-4/5. Phosphorylation by NTRK1 is induced by nerve growth factor (NGF) (By similarity).
  • Ubiquitination at isoforms=2, 3, 4291, isoforms=2, 3, 4416, and posLast=891891
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIDINS220 Gene

Domains & Families for KIDINS220 Gene

Gene Families for KIDINS220 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KIDINS220 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULH0

UniProtKB/Swiss-Prot:

KDIS_HUMAN :
  • The transmembrane domain mediates interaction with NTRK1.
Domain:
  • The transmembrane domain mediates interaction with NTRK1.
genes like me logo Genes that share domains with KIDINS220: view

Function for KIDINS220 Gene

Molecular function for KIDINS220 Gene

UniProtKB/Swiss-Prot Function:
Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in neurotrophin- and ephrin-mediated neuronal outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway.

Phenotypes From GWAS Catalog for KIDINS220 Gene

Gene Ontology (GO) - Molecular Function for KIDINS220 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019887 protein kinase regulator activity IBA --
GO:0030165 PDZ domain binding ISS,IBA --
genes like me logo Genes that share ontologies with KIDINS220: view
genes like me logo Genes that share phenotypes with KIDINS220: view

Animal Models for KIDINS220 Gene

MGI Knock Outs for KIDINS220:

Animal Model Products

CRISPR Products

miRNA for KIDINS220 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIDINS220
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KIDINS220 Gene

Localization for KIDINS220 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIDINS220 Gene

Membrane; Multi-pass membrane protein. Late endosome. Note=Localized at late endosome before or after nerve growth factor (NGF) stimulation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIDINS220 gene
Compartment Confidence
cytosol 5
endosome 4
plasma membrane 3
nucleus 3
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KIDINS220 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005770 late endosome ISS --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIDINS220: view

Pathways & Interactions for KIDINS220 Gene

genes like me logo Genes that share pathways with KIDINS220: view

Pathways by source for KIDINS220 Gene

Gene Ontology (GO) - Biological Process for KIDINS220 Gene

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 IBA,ISS --
genes like me logo Genes that share ontologies with KIDINS220: view

No data available for SIGNOR curated interactions for KIDINS220 Gene

Drugs & Compounds for KIDINS220 Gene

No Compound Related Data Available

Transcripts for KIDINS220 Gene

Unigene Clusters for KIDINS220 Gene

Kinase D-interacting substrate, 220kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIDINS220
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KIDINS220 Gene

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:

Relevant External Links for KIDINS220 Gene

GeneLoc Exon Structure for
KIDINS220
ECgene alternative splicing isoforms for
KIDINS220

Expression for KIDINS220 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIDINS220 Gene

Protein differential expression in normal tissues from HIPED for KIDINS220 Gene

This gene is overexpressed in Fetal Brain (31.5), Placenta (9.4), and Testis (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIDINS220 Gene



Protein tissue co-expression partners for KIDINS220 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIDINS220 Gene:

KIDINS220

SOURCE GeneReport for Unigene cluster for KIDINS220 Gene:

Hs.9873

mRNA Expression by UniProt/SwissProt for KIDINS220 Gene:

Q9ULH0-KDIS_HUMAN
Tissue specificity: Abundant in developing and adult neural tissues as well as neuroendocrine cells and dendritic cells. Overexpressed in melanoma and melanoma cell lines.

Evidence on tissue expression from TISSUES for KIDINS220 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Thyroid gland(4.2)
  • Intestine(2.8)
  • Muscle(2.5)
  • Lung(2)
genes like me logo Genes that share expression patterns with KIDINS220: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIDINS220 Gene

Orthologs for KIDINS220 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIDINS220 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIDINS220 33 34
  • 99.09 (n)
dog
(Canis familiaris)
Mammalia KIDINS220 33 34
  • 91.77 (n)
cow
(Bos Taurus)
Mammalia KIDINS220 33 34
  • 89.22 (n)
oppossum
(Monodelphis domestica)
Mammalia KIDINS220 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIDINS220 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kidins220 33 16 34
  • 86.55 (n)
rat
(Rattus norvegicus)
Mammalia Kidins220 33
  • 86.23 (n)
chicken
(Gallus gallus)
Aves KIDINS220 33 34
  • 79.71 (n)
lizard
(Anolis carolinensis)
Reptilia KIDINS220 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kidins220 33
  • 73.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14036 33
zebrafish
(Danio rerio)
Actinopterygii kidins220a 34
  • 70 (a)
OneToMany
kidins220b 33 34
  • 68.5 (n)
wufj35h03 33
fruit fly
(Drosophila melanogaster)
Insecta CG42672 33 34
  • 49.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012141 33
  • 47.18 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-144 33
  • 49.64 (n)
F36H1.2 35
  • 35 (a)
kdin-1 34
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToOne
Species where no ortholog for KIDINS220 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIDINS220 Gene

ENSEMBL:
Gene Tree for KIDINS220 (if available)
TreeFam:
Gene Tree for KIDINS220 (if available)

Paralogs for KIDINS220 Gene

genes like me logo Genes that share paralogs with KIDINS220: view

Variants for KIDINS220 Gene

Sequence variations from dbSNP and Humsavar for KIDINS220 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1057519300 Pathogenic 8,733,447(-) AGTTG(A/G)CAGGT reference, stop-gained
rs1057519301 Pathogenic 8,731,940(-) ATTCC(C/T)AGGAT reference, stop-gained
rs1057519302 Pathogenic 8,731,515(-) GATTT(-/T)GAAGC reference, frameshift-variant
rs1000027468 -- 8,836,239(+) ACTTT(C/T)CTCTA intron-variant
rs1000083297 -- 8,804,282(+) GACCC(A/C)AGATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIDINS220 Gene

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

Variation tolerance for KIDINS220 Gene

Residual Variation Intolerance Score: 2.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.03; 87.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIDINS220 Gene

Human Gene Mutation Database (HGMD)
KIDINS220
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIDINS220

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIDINS220 Gene

Disorders for KIDINS220 Gene

MalaCards: The human disease database

(17) MalaCards diseases for KIDINS220 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KDIS_HUMAN
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) [MIM:617296]: An autosomal dominant syndrome characterized by rapid growth in infancy, obesity, global developmental delay, intellectual disability, spastic paraplegia, ocular defects, and dysmorphic facial features. {ECO:0000269 PubMed:27005418}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KIDINS220

Genetic Association Database (GAD)
KIDINS220
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIDINS220
genes like me logo Genes that share disorders with KIDINS220: view

No data available for Genatlas for KIDINS220 Gene

Publications for KIDINS220 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 60
  2. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. (PMID: 27005418) Josifova DJ … van Haelst MM (Human molecular genetics 2016) 3 4 60
  3. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V … Ndung'u T (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2011) 3 45 60
  4. ARMS depletion facilitates UV irradiation induced apoptotic cell death in melanoma. (PMID: 18089783) Liao YH … Huang PH (Cancer research 2007) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for KIDINS220 Gene

Sources for KIDINS220 Gene

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