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This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017] See more...
Aliases for ITSN2 Gene
Aliases for ITSN2 Gene
External Ids for ITSN2 Gene
- HGNC: 6184
- Entrez Gene: 50618
- Ensembl: ENSG00000198399
- OMIM: 604464
- UniProtKB: Q9NZM3
Previous HGNC Symbols for ITSN2 Gene
- SH3D1B
Previous GeneCards Identifiers for ITSN2 Gene
- GC02M024341
- GC02M024518
- GC02M024400
- GC02M024337
- GC02M024425
- GC02M024164
Summaries for ITSN2 Gene
-
This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
GeneCards Summary for ITSN2 Gene
ITSN2 (Intersectin 2) is a Protein Coding gene. Diseases associated with ITSN2 include Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation and Cataract 3, Multiple Types. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and SH3/SH2 adaptor activity. An important paralog of this gene is ITSN1.
UniProtKB/Swiss-Prot Summary for ITSN2 Gene
-
Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
Additional gene information for ITSN2 Gene
- Monarch Initiative
- Search for ITSN2 at DataMed
- Search for ITSN2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITSN2 Gene
Genomics for ITSN2 Gene
GeneHancer (GH) Regulatory Elements for ITSN2 Gene
Promoters and enhancers for ITSN2 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 ITSN2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ITSN2 gene promoter:
-
- AP-4
- Arnt
- Evi-1
- GATA-2
- NF-kappaB1
- PPAR-gamma1
- PPAR-gamma2
- RelA
- Roaz
- STAT5A
Genomic Locations for ITSN2 Gene
Genomic Locations for ITSN2 Gene
- chr2:24,202,864-24,360,714
- (GRCh38/hg38)
- Size:
- 157,851 bases
- Orientation:
- Minus strand
- chr2:24,425,733-24,583,583
- (GRCh37/hg19)
- Size:
- 157,851 bases
- Orientation:
- Minus strand
Genomic View for ITSN2 Gene
Genes around ITSN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p23.3 by HGNC
- 2p23.3 by Entrez Gene
- 2p23.3 by Ensembl
ITSN2 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 ITSN2 Gene
Proteins for ITSN2 Gene
-
Protein details for ITSN2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NZM3-ITSN2_HUMAN
- Recommended name:
- Intersectin-2
- Protein Accession:
- Q9NZM3
- O95062
- Q15812
- Q9HAK4
- Q9NXE6
- Q9NYG0
- Q9NZM2
- Q9ULG4
Protein attributes for ITSN2 Gene
- Size:
- 1697 amino acids
- Molecular mass:
- 193461 Da
- Quaternary structure:
-
- Belongs to a complex that may contain multimers of ITSN1, ITSN2 and EPS15, and different partners according to the step in the endocytic process. Interacts with ADAM15. Interacts with FASLG. Interacts with ANKRD54 (By similarity). Interacts with FCHO2.
- (Microbial infection) Interacts with herpes virus 8 protein K15.
- Miscellaneous:
-
- Overexpression results in the inhibition of the transferrin uptake and the blockage of the clathrin-mediated endocytosis.
- SequenceCaution:
-
- Sequence=AAF59903.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF59904.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF63600.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA86570.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for ITSN2 Gene
Protein Expression for ITSN2 Gene
Post-translational modifications for ITSN2 Gene
Other Protein References for ITSN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-ITSN2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ITSN2
- Novus Biologicals Antibodies for ITSN2
- Invitrogen Antibodies for ITSN2 (AFLGC-ITSN2)
-
Biorbyt antibodies for ITSN2
Protein Products
- Atlas Antibodies PrEST Antigen ITSN2
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ITSN2
- Origene Custom Protein Services for ITSN2
- Novus Biologicals proteins for ITSN2
Assay Products
- antibodies-online: Show 4 available ITSN2 Elisa Kits ranked by validation data
- Compare Top ITSN2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ITSN2 Gene
Domains & Families for ITSN2 Gene
Gene Families for ITSN2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ITSN2 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ITSN2 Gene
- GenScript: Design optimal peptide antigens:
-
- Intersectin 2 (A6H8W8_HUMAN)
- SH3P18-like WASP-associated protein (ITSN2_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ITSN2 Gene
Function for ITSN2 Gene
Molecular function for ITSN2 Gene
- UniProtKB/Swiss-Prot Function:
- Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
Phenotypes From GWAS Catalog for ITSN2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005070 | SH3/SH2 adaptor activity | TAS | 9630982 |
| GO:0005089 | Rho guanyl-nucleotide exchange factor activity | IEA | -- |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IEA,IPI | 17696407 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ITSN2 Gene
- MGI mutant phenotypes for ITSN2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ITSN2:
-
- Decreased viability ratio
- G0/1 arrest
- Decreased cell number
- Increased cell size
- Decreased NANOG protein expression
- Decreased OCT4 protein expression
- Decreased POU5F1-GFP protein expression
- Strongly decreased NFAT1-GFP nuclear translocation
- Increased cilium length after serum starvation
- Decreased ionizing radiation sensitivity
- Decreased shRNA abundance
- Decreased viability
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Increased viability
Animal Models for ITSN2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for ITSN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITSN2
- genomics-online: gRNA clones - Search results for available ITSN2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for ITSN2 - Select products 50% OFF >
- * ITSN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ITSN2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITSN2
miRNA for ITSN2 Gene
- miRTarBase miRNAs that target ITSN2
-
- hsa-mir-148b-3p (MIRT019375)
- hsa-mir-124-3p (MIRT022783)
- hsa-mir-21-5p (MIRT030879)
- hsa-mir-320c (MIRT036170)
- hsa-mir-186-5p (MIRT044995)
- hsa-mir-149-5p (MIRT045590)
- hsa-mir-3692-3p (MIRT475069)
- hsa-mir-513a-5p (MIRT475070)
- hsa-mir-16-1-3p (MIRT475071)
- hsa-mir-126-5p (MIRT475072)
- hsa-mir-551b-5p (MIRT475073)
- hsa-mir-216a-3p (MIRT475074)
- hsa-mir-128-3p (MIRT475075)
- hsa-mir-27a-3p (MIRT475076)
- hsa-mir-3681-3p (MIRT475077)
- hsa-mir-27b-3p (MIRT475078)
- hsa-mir-144-3p (MIRT475079)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ITSN2
- Browse OriGene Inhibitory RNA Products For ITSN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITSN2
- genomics-online: shRNA clones - Search results for available ITSN2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ITSN2
- Addgene plasmids for ITSN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITSN2
- genomics-online: cdna clones - Search results for available ITSN2 gene related products
- orf clones - Search results for available ITSN2 gene related products
- Applied Biological Materials (abm): Clones for ITSN2 - Select products 50% OFF >
- * ITSN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ITSN2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for ITSN2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITSN2 Gene
Localization for ITSN2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ITSN2 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| plasma membrane | 2 |
| nucleus | 2 |
| cytosol | 2 |
| endosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005813 | centrosome | IDA | 20479469 |
| GO:0070062 | extracellular exosome | HDA | 19056867 |
Pathways & Interactions for ITSN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin-mediated endocytosis | ||
| 2 | Vesicle-mediated transport | ||
| 3 | EphB-EphrinB Signaling |
EphB-EphrinB Signaling
.58
|
|
| 4 | Regulation of CDC42 activity | ||
Pathways by source for ITSN2 Gene
1 BioSystems pathway for ITSN2 Gene
4 Reactome pathways for ITSN2 Gene
1 Qiagen pathway for ITSN2 Gene
- EphB-EphrinB Signaling
Interacting Proteins for ITSN2 Gene
Selected Interacting proteins:
Q9NZM3-ITSN2_HUMAN
ENSP00000347244
for ITSN2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ITSN2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006897 | endocytosis | IEA | -- |
| GO:0009967 | positive regulation of signal transduction | IEA | -- |
| GO:0016032 | viral process | IEA | -- |
| GO:0030154 | cell differentiation | IEA | -- |
| GO:0035023 | regulation of Rho protein signal transduction | IEA | -- |
No data available for SIGNOR curated interactions for ITSN2 Gene
Drugs & Compounds for ITSN2 Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen ITSN2
Transcripts for ITSN2 Gene
mRNA/cDNA for ITSN2 Gene
- (9) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (235) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000478720 2035 bps (ENST00000478720.1)
- ENST00000361999 5814 bps (ENST00000361999.7)
- ENST00000355123 6300 bps (ENST00000355123.8)
- ENST00000427234 974 bps (ENST00000427234.5)
- ENST00000449392 252 bps (ENST00000449392.1)
CRISPR Products
-
OriGene CRISPR knockouts for ITSN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITSN2
- genomics-online: gRNA clones - Search results for available ITSN2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for ITSN2 - Select products 50% OFF >
- * ITSN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ITSN2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITSN2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ITSN2
- Browse OriGene Inhibitory RNA Products For ITSN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITSN2
- genomics-online: shRNA clones - Search results for available ITSN2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ITSN2
- Addgene plasmids for ITSN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITSN2
- genomics-online: cdna clones - Search results for available ITSN2 gene related products
- orf clones - Search results for available ITSN2 gene related products
- Applied Biological Materials (abm): Clones for ITSN2 - Select products 50% OFF >
- * ITSN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ITSN2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 22b | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30a | · | 30b | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35a | · | 35b | · | 35c | ^ | 36 | ^ | 37 | ^ | 38a | · | 38b | ^ | 39a | · | 39b | ^ | 40 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
Expression for ITSN2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Cardiac Crescent Cells Cardiac Crescent
This gene is overexpressed in Peripheral blood mononuclear cells (16.1), Bone marrow mesenchymal stem cell (10.5), and Lymph node (9.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ITSN2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ITSN2 Gene:
ITSN2SOURCE GeneReport for Unigene cluster for ITSN2 Gene:
Hs.432562mRNA Expression by UniProt/SwissProt for ITSN2 Gene:
Q9NZM3-ITSN2_HUMAN
Tissue specificity:
Expressed in melanocytes (PubMed:23999003). Ubiquitous. Isoform 1 is primarily expressed in adult heart and liver.
Evidence on tissue expression from TISSUES for ITSN2 Gene
- Nervous system(4.6)
- Bone marrow(4.3)
- Liver(4.2)
Primer Products
-
OriGene qPCR primer pairs for ITSN2
- genomics-online: primer clones - Search results for available ITSN2 gene related products
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 ITSN2 Gene
Orthologs for ITSN2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ITSN2 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ITSN2 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ITSN2 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Itsn2 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Itsn2 17 33 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ITSN2 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ITSN2 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ITSN2 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ITSN2 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | itsn2 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | itsn2a 33 32 |
|
OneToMany | |
| itsn2b 33 |
|
OneToMany | |||
| Dr.6013 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Dap160 33 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | itsn-1 33 |
|
OneToMany | |
| Y116A8C.36 34 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | EDE1 33 |
|
OneToMany | |
| TUS1 35 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
ManyToMany | |
| -- 33 |
|
ManyToMany |
- Species where no ortholog for ITSN2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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 ITSN2 Gene
- ENSEMBL:
- Gene Tree for ITSN2 (if available)
- TreeFam:
- Gene Tree for ITSN2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ITSN2: view image
Paralogs for ITSN2 Gene
(22) SIMAP similar genes for ITSN2 Gene using alignment to 9 proteins:
- ITSN2_HUMAN
- A6H8W8_HUMAN
- E7EPJ2_HUMAN
- F8W719_HUMAN
- H7BZD4_HUMAN
- H7C0L8_HUMAN
- H7C3E2_HUMAN
- Q53TK4_HUMAN
- Q53TM3_HUMAN
Variants for ITSN2 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1553340826 | likely-pathogenic, Epilepsy, focal, with speech disorder and with or without mental retardation | 24,210,829(-) | T/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs483352731 | uncertain-significance, not provided | 24,205,244(-) | C/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1000003473 | -- | 24,230,344(-) | ATCATCATC/ATCATC | genic_downstream_transcript_variant, intron_variant | |
| rs1000023027 | -- | 24,362,156(-) | G/A | upstream_transcript_variant | |
| rs1000029986 | -- | 24,221,263(-) | A/C | genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1382590 | CNV | insertion | 17803354 |
| esv1408843 | CNV | deletion | 17803354 |
| esv2131572 | CNV | deletion | 18987734 |
| esv2660423 | CNV | deletion | 23128226 |
| esv2663621 | CNV | deletion | 23128226 |
| esv2667505 | CNV | deletion | 23128226 |
| esv2719815 | CNV | deletion | 23290073 |
| esv2719816 | CNV | deletion | 23290073 |
| esv2719817 | CNV | deletion | 23290073 |
| esv2719819 | CNV | deletion | 23290073 |
| esv3302698 | CNV | tandem duplication | 20981092 |
| esv3553833 | CNV | deletion | 23714750 |
| esv3590065 | CNV | loss | 21293372 |
| esv3590066 | CNV | loss | 21293372 |
| esv3590067 | CNV | loss | 21293372 |
| nsv1114060 | CNV | deletion | 24896259 |
| nsv1117233 | CNV | tandem duplication | 24896259 |
| nsv1130919 | CNV | deletion | 24896259 |
| nsv1150681 | CNV | insertion | 26484159 |
| nsv1153012 | CNV | deletion | 26484159 |
| nsv2642 | CNV | deletion | 18451855 |
| nsv455897 | CNV | gain | 19166990 |
| nsv581179 | CNV | gain | 21841781 |
| nsv955108 | CNV | deletion | 24416366 |
| nsv961386 | CNV | duplication | 23825009 |
| nsv961387 | CNV | duplication | 23825009 |
| nsv997445 | CNV | gain | 25217958 |
| nsv997725 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
14.02;
96.04% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ITSN2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITSN2 Gene
Disorders for ITSN2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epilepsy, focal, with speech disorder and with or without mental retardation |
|
|
| cataract 3, multiple types |
|
|
| speech disorder |
|
|
Search ITSN2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ITSN2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ITSN2 Gene
Publications for ITSN2 Gene
- Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis. (PMID: 10922467) Pucharcos C … de la Luna S (FEBS letters 2000) 2 3 4 23 56
- The K15 protein of Kaposi's sarcoma-associated herpesvirus recruits the endocytic regulator intersectin 2 through a selective SH3 domain interaction. (PMID: 17696407) Lim CS … Pawson T (Biochemistry 2007) 3 4 23 56
- The intersectin 2 adaptor links Wiskott Aldrich Syndrome protein (WASp)-mediated actin polymerization to T cell antigen receptor endocytosis. (PMID: 11748279) McGavin MK … Siminovitch KA (The Journal of experimental medicine 2001) 2 3 23 56
- The human intersectin genes and their spliced variants are differentially expressed. (PMID: 11690630) Pucharcos C … de la Luna S (Biochimica et biophysica acta 2001) 3 4 23 56
- SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo JC … Yoon TJ (Journal of dermatological science 2013) 3 4 56
ExternalLinks
Products for ITSN2 Gene
- Custom Antibody ServicesOriGene Antibodies for ITSN2
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- Invitrogen Antibodies for ITSN2 (AFLGC-ITSN2)
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- antibodies-online: Show 17 available ITSN2 Antibodies ranked by validation data
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- Horizon Cell Lines for ITSN2
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- Biorbyt antibodies for ITSN2
Sources for ITSN2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
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