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Aliases for KIDINS220 Gene

Aliases for KIDINS220 Gene

  • Kinase D-Interacting Substrate 220kDa 2 3 5
  • Ankyrin Repeat-Rich Membrane-Spanning Protein 2 3 4
  • ARMS 3 4
  • Kinase D-Interacting Substrate Of 220 KDa 3
  • Kinase D-Interacting Substrate, 220kDa 2
  • Ankyrin Repeat-Rich Membrane Spanning 3
  • Truncated KIDINS220 3
  • KIAA1250 4

External Ids for KIDINS220 Gene

Previous GeneCards Identifiers for KIDINS220 Gene

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

Summaries for KIDINS220 Gene

GeneCards Summary for KIDINS220 Gene

KIDINS220 (Kinase D-Interacting Substrate 220kDa) is a Protein Coding gene. Diseases associated with KIDINS220 include Urethral Diverticulum and Rectal Prolapse. Among its related pathways are Signaling by GPCR and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include PDZ domain binding and protein kinase regulator activity. An important paralog of this gene is ANKS6.

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

No data available for Entrez Gene 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
- Elite enhancer/Elite enhancer-gene association

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

ENSRs around KIDINS220 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIDINS220 Gene

Chromosome:
2
Start:
8,725,278 bp from pter
End:
8,837,630 bp from pter
Size:
112,353 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 Lys 291, Lys 416, and Lys 891
  • Modification sites at PhosphoSitePlus

Other Protein References for KIDINS220 Gene

No data available for DME Specific Peptides for KIDINS220 Gene

Domains & Families for KIDINS220 Gene

Gene Families for KIDINS220 Gene

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.
  • Contains 12 ANK repeats.
Domain:
  • The transmembrane domain mediates interaction with NTRK1.
  • Contains 1 KAP NTPase domain.
Similarity:
  • Contains 12 ANK repeats.
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.

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 --
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

Flow Cytometry Products

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
Jensen Localization Image for KIDINS220 Gene COMPARTMENTS Subcellular localization image for KIDINS220 gene
Compartment Confidence
cytosol 5
endosome 4
plasma membrane 3
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KIDINS220 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005770 late endosome ISS --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0043234 protein complex ISS --
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:0010976 positive regulation of neuron projection development ISS --
GO:0038180 nerve growth factor signaling pathway ISS --
GO:0045859 regulation of protein kinase activity IBA --
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

mRNA/cDNA for KIDINS220 Gene

Unigene Clusters for KIDINS220 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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.
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 and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia KIDINS220 34
  • 89.22 (n)
  • 94.91 (a)
KIDINS220 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIDINS220 34
  • 91.77 (n)
  • 96.95 (a)
KIDINS220 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kidins220 34
  • 86.55 (n)
  • 94.12 (a)
Kidins220 16
Kidins220 35
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIDINS220 34
  • 99.09 (n)
  • 99.13 (a)
KIDINS220 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kidins220 34
  • 86.23 (n)
  • 94.14 (a)
oppossum
(Monodelphis domestica)
Mammalia KIDINS220 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIDINS220 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIDINS220 34
  • 79.71 (n)
  • 87.22 (a)
KIDINS220 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIDINS220 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kidins220 34
  • 73.31 (n)
  • 81.1 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14036 34
zebrafish
(Danio rerio)
Actinopterygii kidins220b 34
  • 68.5 (n)
  • 75.91 (a)
wufj35h03 34
kidins220a 35
  • 70 (a)
OneToMany
kidins220b 35
  • 73 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012141 34
  • 47.18 (n)
  • 42.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42672 34
  • 49.64 (n)
  • 43.75 (a)
CG42672 35
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F36H1.2 36
  • 35 (a)
tag-144 34
  • 49.64 (n)
  • 39.5 (a)
kdin-1 35
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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

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
rs2304591 - 8,733,577(-) TCGCC(A/G)CGCTT reference, missense
rs1044280 - 8,731,212(-) TCCCA(G/T)CTTGA reference, missense
rs2289229 - 8,789,888(+) AGAAT(A/G)TATAT reference, missense
rs1129344 -- 8,742,325(-) ccaca(A/G)gttca intron-variant
rs2196689 -- 8,769,912(+) TTTCA(C/T)ATAAA 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

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

(9) MalaCards diseases for KIDINS220 Gene - From: DISEASES

Disorder Aliases PubMed IDs
urethral diverticulum
rectal prolapse
  • procidentia, rectum
rectal disease
  • rectal disorders
neurogenic bowel
rhabdomyosarcoma 2, alveolar
  • rhabdomyosarcoma, alveolar
- elite association - COSMIC cancer census association via MalaCards

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 UniProtKB/Swiss-Prot and 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 Res. 1999) 2 3 4 65
  2. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V. … Ndung'u T. (Clin. Infect. Dis. 2011) 3 46 65
  3. ARMS depletion facilitates UV irradiation induced apoptotic cell death in melanoma. (PMID: 18089783) Liao Y.-H. … Huang P.-H. (Cancer Res. 2007) 3 4 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. Identification and cloning of Kidins220, a novel neuronal substrate of protein kinase D. (PMID: 10998417) Iglesias T. … Schiavo G. (J. Biol. Chem. 2000) 2 3 65

Products for KIDINS220 Gene

Sources for KIDINS220 Gene

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