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

  • Intersectin 2 2 3 5
  • SH3P18-Like WASP-Associated Protein 3 4
  • SH3 Domain-Containing Protein 1B 3 4
  • Intersectin-2 3 4
  • SH3D1B 3 4
  • SH3P18 3 4
  • SWAP 3 4
  • SH3P18-Like WASP Associated Protein 2
  • SH3 Domain Protein 1B 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. [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).

Gene Wiki entry for ITSN2 Gene

Additional gene information for ITSN2 Gene

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:
ITSN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.
    • (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

    Alternative splice isoforms for ITSN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITSN2 Gene

Post-translational modifications for ITSN2 Gene

  • Ubiquitination at Lys566
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITSN2 Gene

Domains & Families for ITSN2 Gene

Gene Families for ITSN2 Gene

Suggested Antigen Peptide Sequences for ITSN2 Gene

GenScript: Design optimal peptide antigens:
  • Intersectin 2 (A6H8W8_HUMAN)
  • SH3P18-like WASP-associated protein (ITSN2_HUMAN)
genes like me logo Genes that share domains with ITSN2: view

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

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 IEA,IPI 17696407
GO:0046872 metal ion binding IEA --
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:
  • Itsn2 Itsn2<tm1Egan>
  • Itsn2 Itsn2<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITSN2

Clone Products

  • Addgene plasmids 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.

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 ITSN2 gene
Compartment Confidence
cytoskeleton 4
plasma membrane 2
nucleus 2
cytosol 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

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 HDA 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
  • EphB-EphrinB Signaling

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 IEA --
GO:0016032 viral process IEA --
GO:0030154 cell differentiation IEA --
GO:0035023 regulation of Rho protein signal transduction IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITSN2

Clone Products

  • Addgene plasmids for ITSN2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for ITSN2 Gene



Protein tissue co-expression partners for ITSN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITSN2 Gene:

ITSN2

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.

Evidence on tissue expression from TISSUES for ITSN2 Gene

  • Nervous system(4.6)
  • Bone marrow(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ITSN2: view

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.

Orthologs for ITSN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITSN2 33 32
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ITSN2 33 32
  • 92.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ITSN2 33 32
  • 91.11 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itsn2 32
  • 89.1 (n)
mouse
(Mus musculus)
Mammalia Itsn2 17 33 32
  • 88.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ITSN2 33
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITSN2 33
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITSN2 33 32
  • 77.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITSN2 33
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itsn2 32
  • 70.83 (n)
zebrafish
(Danio rerio)
Actinopterygii itsn2a 33 32
  • 62.49 (n)
OneToMany
itsn2b 33
  • 55 (a)
OneToMany
Dr.6013 32
fruit fly
(Drosophila melanogaster)
Insecta Dap160 33 34
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea itsn-1 33
  • 29 (a)
OneToMany
Y116A8C.36 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EDE1 33
  • 16 (a)
OneToMany
TUS1 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 56 (a)
ManyToMany
-- 33
  • 40 (a)
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

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
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 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

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

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

Variation tolerance for ITSN2 Gene

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

Human Gene Mutation Database (HGMD)
ITSN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITSN2

SNP Genotyping and Copy Number Assay Products

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: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, focal, with speech disorder and with or without mental retardation
  • benign rolandic epilepsy
cataract 3, multiple types
  • ctrct3
speech disorder
  • speech disorders
- elite association - COSMIC cancer census association via MalaCards
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
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. 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
  2. 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
  3. 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
  4. 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
  5. 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

Products for ITSN2 Gene

Sources for ITSN2 Gene