KIDINS220 Gene (Protein Coding)

Kinase D Interacting Substrate 220

GC02M008715
GIFtS:
42
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 ne... See more...

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
  • ARMS 2 3 4
  • Kinase D-Interacting Substrate Of 220 KDa 3 4
  • Kinase D-Interacting Substrate 220kDa 2 3
  • KIDINS220 5
  • 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 Paraplegia. 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.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for KIDINS220 Gene

Genomics for KIDINS220 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KIDINS220 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIDINS220 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIDINS220

Top Transcription factor binding sites by QIAGEN in the KIDINS220 gene promoter:
  • AML1a
  • GATA-1
  • GATA-2
  • GATA-3
  • Lhx3a
  • LHX3b
  • TBP
  • TFIID

Genomic Locations for KIDINS220 Gene

Latest Assembly
chr2:8,721,081-8,837,630
(GRCh38/hg38)
Size:
116,550 bases
Orientation:
Minus strand

Previous Assembly
chr2:8,861,211-8,977,743
(GRCh37/hg19 by Entrez Gene)
Size:
116,533 bases
Orientation:
Minus strand

chr2:8,865,408-8,977,760
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for KIDINS220 Gene

Proteins for KIDINS220 Gene

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  • 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:
    • 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. Interacts with RAPGEF2; the interaction is strengthened after NGF stimulation. Isoform 2 interacts (via C-terminal domain) with MAGI2 isoform 1 (via PDZ domain). 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 (via PDZ-binding motif) with SNTA1 and SNTB2 (via PDZ domains). Interacts with EPHA4 and PRKD1.
    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

Protein Expression for KIDINS220 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Lys291, Lys416, and Lys891
  • Modification sites at PhosphoSitePlus

Other Protein References for KIDINS220 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for KIDINS220
  • Santa Cruz Biotechnology (SCBT) Antibodies for KIDINS220

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):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KIDINS220 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature

Suggested Antigen Peptide Sequences for KIDINS220 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61245, highly similar to Homo sapiens kinase D-interacting substance of 220 kDa (KIDINS220), mRNA (B4DGY1_HUMAN)
  • Ankyrin repeat-rich membrane-spanning protein (KDIS_HUMAN)

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

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  6. Cell Lines for research

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:0005515 protein binding IEA --
GO:0019887 protein kinase regulator activity IBA 21873635
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

Human Phenotype Ontology for KIDINS220 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIDINS220 Gene

MGI Knock Outs for KIDINS220:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIDINS220

No data available for Enzyme Numbers (IUBMB) , 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 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

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 IEA,HDA 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

1 BioSystems pathway for KIDINS220 Gene
1 KEGG pathway for KIDINS220 Gene

SIGNOR curated interactions for KIDINS220 Gene

Other effect:

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

Drugs & Compounds for KIDINS220 Gene

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No Compound Related Data Available

Transcripts for KIDINS220 Gene

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mRNA/cDNA for KIDINS220 Gene

14 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIDINS220

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:
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SP15:

Relevant External Links for KIDINS220 Gene

GeneLoc Exon Structure for
KIDINS220

Expression for KIDINS220 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for KIDINS220 Gene
mRNA expression by BioGPS for KIDINS220 GenemRNA expression by GTEx 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, MaxQB, and MOPED for KIDINS220 Gene



Protein tissue co-expression partners for KIDINS220 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(5)
  • Thyroid gland(4.3)
  • Liver(4.3)
  • Heart(2.2)
  • Adrenal gland(2.2)
  • Kidney(2.2)
  • Muscle(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with KIDINS220: view

Primer products for research

No data available for 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 29 30
  • 99.09 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KIDINS220 29 30
  • 91.77 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KIDINS220 29 30
  • 89.22 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia KIDINS220 30
  • 87 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia KIDINS220 30
  • 87 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Kidins220 29 16 30
  • 86.55 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kidins220 29
  • 86.23 (n)
Chicken
(Gallus gallus)
 Aves KIDINS220 29 30
  • 79.71 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KIDINS220 30
  • 85 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia kidins220 29
  • 73.31 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.14036 29
Zebrafish
(Danio rerio)
 Actinopterygii kidins220a 30
  • 70 (a)
 OneToMany
kidins220b 29 30
  • 68.5 (n)
 OneToMany
wufj35h03 29
Fruit Fly
(Drosophila melanogaster)
 Insecta CG42672 29 30
  • 49.64 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012141 29
  • 47.18 (n)
Worm
(Caenorhabditis elegans)
 Secernentea tag-144 29
  • 49.64 (n)
F36H1.2 31
  • 35 (a)
kdin-1 30
  • 33 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 36 (a)
 OneToOne
Species where no ortholog for KIDINS220 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KIDINS220: view image
Alliance of Genome Resources:
Additional Orthologs for KIDINS220

Paralogs for KIDINS220 Gene

(16) SIMAP similar genes for KIDINS220 Gene using alignment to 6 proteins:

  • KDIS_HUMAN
  • E9PH70_HUMAN
  • F8WAY8_HUMAN
  • G1UI41_HUMAN
  • H0Y8E4_HUMAN
  • H7C584_HUMAN
genes like me logo Genes that share paralogs with KIDINS220: view

No data available for Paralogs for KIDINS220 Gene

Variants for KIDINS220 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIDINS220 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1006580 Uncertain Significance: not provided 8,778,693(-) C/A
NM_020738.4(KIDINS220):c.2649G>T (p.Gln883His) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1012049 Uncertain Significance: not provided 8,796,857(-) G/A
NM_020738.4(KIDINS220):c.1012C>T (p.Pro338Ser) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1030723 Uncertain Significance: Spastic paraplegia, intellectual disability, nystagmus, and obesity 8,731,487(-) G/A
NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter) 		NONSENSE,INTRON
1032091 Uncertain Significance: Spastic paraplegia, intellectual disability, nystagmus, and obesity 8,818,692(-) T/C
NM_020738.4(KIDINS220):c.207+3A>G 		INTRON
1032092 Uncertain Significance: Spastic paraplegia, intellectual disability, nystagmus, and obesity 8,779,082(-) T/C
NM_020738.4(KIDINS220):c.2428A>G (p.Ile810Val) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KIDINS220 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KIDINS220 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for KIDINS220 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KIDINS220 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for KIDINS220

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KIDINS220: view

No data available for Genatlas for KIDINS220 Gene

Publications for KIDINS220 Gene

  1. 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 72
  2. 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
  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 40
  4. ARMS depletion facilitates UV irradiation induced apoptotic cell death in melanoma. (PMID: 18089783) Liao YH … Huang PH (Cancer research 2007) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for KIDINS220 gene in Mastermind

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