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Aliases for ITSN2 Gene

Aliases for ITSN2 Gene

  • Intersectin 2 2 3
  • SH3P18-Like WASP-Associated Protein 3 4
  • SH3 Domain-Containing Protein 1B 3 4
  • SH3 Domain Protein 1B 2 2
  • SH3D1B 3 4
  • SH3P18 3 4
  • SWAP 3 4
  • SH3P18-Like WASP Associated Protein 2
  • KIAA1256 4
  • PRO2015 3
  • SWA 3

External Ids for ITSN2 Gene

Previous HGNC Symbols for ITSN2 Gene

  • SH3D1B

Previous GeneCards Identifiers for ITSN2 Gene

  • GC02M024341
  • GC02M024518
  • GC02M024400
  • GC02M024337
  • GC02M024425
  • GC02M024164

Summaries for ITSN2 Gene

Entrez Gene Summary 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. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for ITSN2 Gene

ITSN2 (Intersectin 2) is a Protein Coding gene. Diseases associated with ITSN2 include intestinal schistosomiasis and landau-kleffner syndrome. Among its related pathways are Regulation of CDC42 activity and EphB-EphrinB Signaling. GO annotations related to this gene include calcium ion binding and SH3/SH2 adaptor activity. An important paralog of this gene is EHD1.

UniProtKB/Swiss-Prot 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).

Gene Wiki entry for ITSN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITSN2 Gene

Genomics for ITSN2 Gene

Regulatory Elements for ITSN2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ITSN2 Gene

Chromosome:
2
Start:
24,202,864 bp from pter
End:
24,360,714 bp from pter
Size:
157,851 bases
Orientation:
Minus strand

Genomic View for ITSN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ITSN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.
    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

    Alternative splice isoforms for ITSN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITSN2 Gene

Proteomics data for ITSN2 Gene at MOPED

Post-translational modifications for ITSN2 Gene

  • Ubiquitination at Lys 566
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITSN2 Gene

Domains & Families for ITSN2 Gene

Suggested Antigen Peptide Sequences for ITSN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZM3

UniProtKB/Swiss-Prot:

ITSN2_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 EF-hand domain.
  • Contains 2 EH domains.
  • Contains 1 PH domain.
  • Contains 5 SH3 domains.
genes like me logo Genes that share domains with ITSN2: view

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).

Gene Ontology (GO) - Molecular Function 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 IPI 17696407
genes like me logo Genes that share ontologies with ITSN2: view
genes like me logo Genes that share phenotypes with ITSN2: view

Animal Models for ITSN2 Gene

MGI Knock Outs for ITSN2:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ITSN2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITSN2 Gene

Localization for ITSN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITSN2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITSN2 Gene COMPARTMENTS Subcellular localization image for ITSN2 gene
Compartment Confidence
extracellular 5
cytoskeleton 4
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ITSN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 20479469
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ITSN2: view

Pathways & Interactions for ITSN2 Gene

genes like me logo Genes that share pathways with ITSN2: view

Pathways by source for ITSN2 Gene

1 Qiagen pathway for ITSN2 Gene
1 BioSystems pathway for ITSN2 Gene

Gene Ontology (GO) - Biological Process for ITSN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0009967 positive regulation of signal transduction TAS 9630982
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:1903861 positive regulation of dendrite extension IDA 23999003
genes like me logo Genes that share ontologies with ITSN2: view

No data available for SIGNOR curated interactions for ITSN2 Gene

Drugs & Compounds for ITSN2 Gene

No Compound Related Data Available

Transcripts for ITSN2 Gene

Unigene Clusters for ITSN2 Gene

Intersectin 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ITSN2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITSN2 Gene

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:

Relevant External Links for ITSN2 Gene

GeneLoc Exon Structure for
ITSN2
ECgene alternative splicing isoforms for
ITSN2

Expression for ITSN2 Gene

mRNA expression in normal human tissues for ITSN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITSN2 Gene

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, PaxDb, and MOPED for ITSN2 Gene



SOURCE GeneReport for Unigene cluster for ITSN2 Gene Hs.432562

mRNA 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.
genes like me logo Genes that share expression patterns with ITSN2: view

Protein tissue co-expression partners for ITSN2 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ITSN2 Gene

Orthologs for ITSN2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ITSN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITSN2 35
  • 91.11 (n)
  • 93.39 (a)
ITSN2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITSN2 35
  • 92.2 (n)
  • 94.89 (a)
ITSN2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itsn2 35
  • 88.73 (n)
  • 93.45 (a)
Itsn2 16
Itsn2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITSN2 35
  • 99.51 (n)
  • 99.51 (a)
ITSN2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itsn2 35
  • 89.1 (n)
  • 94.08 (a)
oppossum
(Monodelphis domestica)
Mammalia ITSN2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITSN2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITSN2 35
  • 77.92 (n)
  • 83.11 (a)
ITSN2 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITSN2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itsn2 35
  • 70.83 (n)
  • 75.23 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.6013 35
itsn2a 35
  • 62.49 (n)
  • 62.68 (a)
itsn2a 36
  • 60 (a)
OneToMany
itsn2b 36
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Dap160 37
  • 28 (a)
Dap160 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y116A8C.36 37
  • 26 (a)
itsn-1 36
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EDE1 36
  • 16 (a)
OneToMany
TUS1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
Species with no ortholog for ITSN2:
  • 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)

Paralogs for ITSN2 Gene

Paralogs for ITSN2 Gene

genes like me logo Genes that share paralogs with ITSN2: view

Variants for ITSN2 Gene

Sequence variations from dbSNP and Humsavar for ITSN2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1203 -- 24,220,461(+) TTACA(A/G)TATGC intron-variant, utr-variant-3-prime
rs1047745 -- 24,240,120(-) TTTTT(C/T)TTTAT intron-variant
rs1139014 -- 24,262,463(-) GACAT(A/G)TTTAC intron-variant
rs1477220 -- 24,220,080(+) CCAGG(C/T)ATTAG intron-variant, downstream-variant-500B
rs1559472 -- 24,232,961(+) AGCAA(A/G)CAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITSN2 Gene

Variant ID Type Subtype PubMed ID
dgv4070n71 CNV Gain 21882294
nsv873737 CNV Gain 21882294
nsv455897 CNV Gain 19166990
esv2667505 CNV Deletion 23128226
esv2131572 CNV Deletion 18987734
esv2719815 CNV Deletion 23290073
esv2719816 CNV Deletion 23290073
esv1408843 CNV Deletion 17803354
esv259672 OTHER Complex 20981092
esv1382590 CNV Insertion 17803354
nsv873740 CNV Gain 21882294
esv2663621 CNV Deletion 23128226
esv2660423 CNV Deletion 23128226
esv2719817 CNV Deletion 23290073
esv2719819 CNV Deletion 23290073
nsv2642 CNV Loss 18451855

Variation tolerance for ITSN2 Gene

Residual Variation Intolerance Score: 34.81% 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)

Relevant External Links for ITSN2 Gene

HapMap Linkage Disequilibrium report
ITSN2
Human Gene Mutation Database (HGMD)
ITSN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITSN2 Gene

Disorders for ITSN2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ITSN2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
intestinal schistosomiasis
  • schistosomiasis japonica
landau-kleffner syndrome
  • acquired epileptic aphasia
pediatric fibrosarcoma
  • childhood fibrosarcoma
- elite association
Search ITSN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITSN2

Genetic Association Database (GAD)
ITSN2
Human Genome Epidemiology (HuGE) Navigator
ITSN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITSN2
genes like me logo Genes that share disorders with ITSN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITSN2 Gene

Publications for ITSN2 Gene

  1. The intersectin 2 adaptor links Wiskott Aldrich Syndrome protein (WASp)-mediated actin polymerization to T cell antigen receptor endocytosis. (PMID: 11748279) McGavin M.K. … Siminovitch K.A. (J. Exp. Med. 2001) 2 23 67
  2. Intersectin 2, a new multimodular protein involved in clathrin- mediated endocytosis. (PMID: 10922467) Pucharcos C. … de la Luna S. (FEBS Lett. 2000) 2 23 67
  3. The K15 protein of Kaposi's sarcoma-associated herpesvirus recruits the endocytic regulator intersectin 2 through a selective SH3 domain interaction. (PMID: 17696407) Lim C.S. … Pawson T. (Biochemistry 2007) 23 67
  4. Expression analysis of human intersectin 2 gene (ITSN2) minor splice variants showing differential expression in normal human brain. (PMID: 17390067) Seifert M. … Welter C. (Oncol. Rep. 2007) 23 67
  5. Psoriasin, one of several new proteins identified in nasal lavage fluid from allergic and non-allergic individuals using 2-dimensional gel electrophoresis and mass spectrometry. (PMID: 16236163) Bryborn M. … Cardell L.O. (Respir. Res. 2005) 23 67

Products for ITSN2 Gene

Sources for ITSN2 Gene

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