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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 ne... See more...
Aliases for KIDINS220 Gene
Aliases for KIDINS220 Gene
External Ids for KIDINS220 Gene
- HGNC: 29508
- Entrez Gene: 57498
- Ensembl: ENSG00000134313
- OMIM: 615759
- UniProtKB: Q9ULH0
Previous GeneCards Identifiers for KIDINS220 Gene
- GC02U990270
- GC02M008920
- GC02M008890
- GC02M008819
- GC02M008786
- GC02M008865
Summaries 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 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.
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.
Additional gene information for KIDINS220 Gene
- HGNC(29508)
- Entrez Gene(57498)
- Ensembl(ENSG00000134313)
- OMIM(615759)
- UniProtKB(Q9ULH0)
- Open Targets Platform(ENSG00000134313)
- Monarch Initiative
- Search for KIDINS220 at DataMed
- Search for KIDINS220 at HumanCyc
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
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
Genomic Locations for KIDINS220 Gene
- chr2:8,721,081-8,837,630
- (GRCh38/hg38)
- Size:
- 116,550 bases
- Orientation:
- Minus strand
- chr2:8,865,408-8,977,760
- (GRCh37/hg19)
- 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:
-
- 2p25.1 by HGNC
- 2p25.1 by Entrez Gene
- 2p25.1 by Ensembl
KIDINS220 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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 Lys291, Lys416, and Lys891
- NX_Q9ULH0 (NX_Q9ULH0-1)
- Modification sites at PhosphoSitePlus
Other Protein References for KIDINS220 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ KIDINS220 Antibody
-
Custom Antibody ServicesOriGene Antibodies for KIDINS220
- Novus Biologicals Antibodies for KIDINS220
-
Abcam antibodies for KIDINS220
- Invitrogen Antibodies for KIDINS220 (AFLGC-Kidins220)
-
Boster Bio Antibodies for KIDINS220
-
Santa Cruz Biotechnology (SCBT) Antibodies for KIDINS220
Protein Products
-
OriGene Purified Proteins for KIDINS220
- Search Origene for MassSpec and Protein Over-expression Lysates for KIDINS220
- Origene Custom Protein Services for KIDINS220
- Novus Biologicals proteins for KIDINS220
- antibodies-online: Show 3 available KIDINS220 Proteins ranked by validation data
- Compare Top KIDINS220 Proteins
-
Quality Products:
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
- ProtoNet:
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- Domain:
-
- The transmembrane domain mediates interaction with NTRK1.
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
| 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 | -- |
Phenotypes for KIDINS220 Gene
- MGI mutant phenotypes for KIDINS220:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for KIDINS220:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased homologous recombination repair frequency
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased HPV16-GFP infection
- Decreased viability with paclitaxel
- Increased G1 length
- Increased S length
Animal Models for KIDINS220 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KIDINS220 - Select products 50% OFF >
- * KIDINS220 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KIDINS220
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KIDINS220
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIDINS220
miRNA for KIDINS220 Gene
- miRTarBase miRNAs that target KIDINS220
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KIDINS220
- Browse OriGene Inhibitory RNA Products For KIDINS220
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIDINS220
Clone Products
- Applied Biological Materials (abm): Clones for KIDINS220 - Select products 50% OFF >
- * KIDINS220 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for KIDINS220
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KIDINS220
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| endosome | 4 |
| plasma membrane | 3 |
| nucleus | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for KIDINS220 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling | ||
| 2 | Development HGF signaling pathway | ||
| 3 | Signaling by GPCR | ||
| 4 | Brain-Derived Neurotrophic Factor (BDNF) signaling pathway | ||
Pathways by source for KIDINS220 Gene
1 BioSystems pathway for KIDINS220 Gene
6 Reactome pathways for KIDINS220 Gene
1 KEGG pathway for KIDINS220 Gene
Interacting Proteins for KIDINS220 Gene
Selected Interacting proteins:
Q9ULH0-KDIS_HUMAN
ENSP00000256707
for KIDINS220 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KIDINS220
| 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 | -- |
Transcripts for KIDINS220 Gene
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 :
-
- ENST00000256707 7348 nts (view in UCSC)
- ENST00000319688 3765 nts (view in UCSC)
- ENST00000459813 2036 nts (view in UCSC)
- ENST00000471275 598 nts (view in UCSC)
- ENST00000471685 593 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KIDINS220 - Select products 50% OFF >
- * KIDINS220 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KIDINS220
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KIDINS220
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIDINS220
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KIDINS220
- Browse OriGene Inhibitory RNA Products For KIDINS220
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIDINS220
Clone Products
- Applied Biological Materials (abm): Clones for KIDINS220 - Select products 50% OFF >
- * KIDINS220 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for KIDINS220
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KIDINS220
| 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
Expression for KIDINS220 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Spinal Cord (Nervous System)
-
Larynx (Respiratory System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIDINS220
SOURCE GeneReport for Unigene cluster for KIDINS220 Gene:
Hs.9873mRNA 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)
- Liver(4.6)
- Thyroid gland(4.4)
- Kidney(3.2)
- Heart(3.1)
- Skin(3.1)
- Muscle(3.1)
- Spleen(3)
- Intestine(3)
- Lung(3)
- Blood(2.9)
- Lymph node(2.5)
- Bone marrow(2.4)
- Stomach(2.4)
- Adrenal gland(2.3)
- Eye(2.2)
- Pancreas(2.1)
Primer Products
-
OriGene qPCR primer pairs for KIDINS220
Gene Expression Assay Products
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.
| 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 |
- 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
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
No data available for Paralogs for KIDINS220 Gene
Variants for KIDINS220 Gene
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 |
|---|---|---|---|---|---|
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIDINS220 Gene
Disorders for KIDINS220 Gene
(31) MalaCards diseases for KIDINS220 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia, intellectual disability, nystagmus, and obesity |
|
|
| frontal sinusitis |
|
|
| chronic frontal sinusitis |
|
|
| paraplegia |
|
|
| urethral diverticulum |
|
|
Search KIDINS220 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for KIDINS220
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for KIDINS220 Gene
Publications for KIDINS220 Gene
- 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
- 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
- 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 41
- ARMS depletion facilitates UV irradiation induced apoptotic cell death in melanoma. (PMID: 18089783) Liao YH … Huang PH (Cancer research 2007) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
Products for KIDINS220 Gene
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Sources for KIDINS220 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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- (7) GeneLoc
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