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    Itsn2 intersectin 2 [ Mus musculus (house mouse) ]

    Gene ID: 20403, updated on 18-Sep-2024

    Summary

    Official Symbol
    Itsn2provided by MGI
    Official Full Name
    intersectin 2provided by MGI
    Primary source
    MGI:MGI:1338049
    See related
    Ensembl:ENSMUSG00000020640 AllianceGenome:MGI:1338049
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ese2; Sh3d1B; Sh3p18; mKIAA1256
    Summary
    Predicted to enable molecular adaptor activity. Predicted to be involved in clathrin-dependent synaptic vesicle endocytosis and positive regulation of dendrite extension. Predicted to act upstream of or within cell differentiation. Predicted to be located in centrosome. Predicted to be active in several cellular components, including clathrin-coated pit; intracellular vesicle; and presynaptic membrane. Is expressed in several structures, including endocrine gland; ileum; male reproductive gland or organ; nervous system; and thymus. Used to study nephrotic syndrome. Orthologous to human ITSN2 (intersectin 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thymus adult (RPKM 7.2), spleen adult (RPKM 6.5) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Itsn2 in Genome Data Viewer
    Location:
    12 A1.1; 12 2.09 cM
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (4642792..4763952)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (4592643..4713952)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 31938 Neighboring gene STARR-seq mESC enhancer starr_31454 Neighboring gene predicted gene, 46332 Neighboring gene predicted gene 3625 Neighboring gene ribosomal protein L18A pseudogene Neighboring gene predicted gene, 53750 Neighboring gene family with sequence similarity 228, member A Neighboring gene family with sequence similarity 228, member B Neighboring gene predicted gene, 23676 Neighboring gene predicted gene, 22003

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (5)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in clathrin-dependent synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of dendrite extension ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in intracellular vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in presynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    intersectin-2
    Names
    EH and SH3 domains protein 2
    EH domain and SH3 domain regulator of endocytosis 2
    Eh domain, SH3 domain regulator of endocytosis 2
    SH3 domain protein 1B
    SH3 domain-containing protein 1B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001198968.2NP_001185897.1  intersectin-2 isoform 1

      See identical proteins and their annotated locations for NP_001185897.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC241534, BC037119, BC138262
      Consensus CDS
      CCDS88305.1
      UniProtKB/Swiss-Prot
      Q8C9C3, Q9Z0R5, Q9Z0R6
      UniProtKB/TrEMBL
      B2RR82
      Related
      ENSMUSP00000151896.2, ENSMUST00000220311.2
      Conserved Domains (11) summary
      cd08375
      Location:15431677
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15107
      EH; Eps15 homology domain
      cd11988
      Location:747803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:9731024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:10451103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:11181171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:12021381
      RhoGEF; RhoGEF domain
      pfam16617
      Location:806883
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:14001554
      PH_13; Pleckstrin homology domain
    2. NM_001198969.2NP_001185898.1  intersectin-2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' exons and has a novel 3' terminus, compared to variant 1. It encodes an isoform (3) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC241534, AK031390, BC138262
      UniProtKB/TrEMBL
      Q3TQ85
      Conserved Domains (5) summary
      smart00027
      Location:15107
      EH; Eps15 homology domain
      cd00052
      Location:249315
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam13499
      Location:250307
      EF-hand_7; EF-hand domain pair
      cl19219
      Location:521614
      DUF342; Protein of unknown function (DUF342)
      cl23720
      Location:343429
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    3. NM_011365.4NP_035495.2  intersectin-2 isoform 2

      See identical proteins and their annotated locations for NP_035495.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame alternate exon in the 5' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AC241534, BC037119, BC138262
      Consensus CDS
      CCDS36398.1
      UniProtKB/Swiss-Prot
      Q8C9C3, Q9Z0R5, Q9Z0R6
      UniProtKB/TrEMBL
      E9QNG1
      Related
      ENSMUSP00000052758.8, ENSMUST00000062580.8
      Conserved Domains (11) summary
      cd08375
      Location:15161650
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15107
      EH; Eps15 homology domain
      cd11988
      Location:720776
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:856907
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:946997
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:10181076
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:10911144
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      smart00325
      Location:11751355
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      COG1196
      Location:350726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16652
      Location:13731516
      PH_13; Pleckstrin homology domain
      cd21577
      Location:106185
      KLF3_N; N-terminal domain of Kruppel-like factor 3

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      4642792..4763952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515024.5XP_006515087.1  intersectin-2 isoform X1

      See identical proteins and their annotated locations for XP_006515087.1

      UniProtKB/Swiss-Prot
      Q8C9C3, Q9Z0R5, Q9Z0R6
      UniProtKB/TrEMBL
      B2RR82
      Conserved Domains (11) summary
      cd08375
      Location:15431677
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15107
      EH; Eps15 homology domain
      cd11988
      Location:747803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:9731024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:10451103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:11181171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:12021381
      RhoGEF; RhoGEF domain
      pfam16617
      Location:806883
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:14001554
      PH_13; Pleckstrin homology domain
    2. XM_006515027.5XP_006515090.1  intersectin-2 isoform X5

      Conserved Domains (8) summary
      smart00027
      Location:15107
      EH; Eps15 homology domain
      cd11988
      Location:720776
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:856907
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:946997
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:10181076
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:10911144
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16617
      Location:779856
      INTAP; Intersectin and clathrin adaptor AP2 binding region
    3. XM_036157276.1XP_036013169.1  intersectin-2 isoform X3

      UniProtKB/Swiss-Prot
      Q8C9C3, Q9Z0R5, Q9Z0R6
      UniProtKB/TrEMBL
      E9QNG1
      Related
      ENSMUSP00000151900.2, ENSMUST00000219007.2
      Conserved Domains (11) summary
      cd08375
      Location:15161650
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15107
      EH; Eps15 homology domain
      cd11988
      Location:720776
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:856907
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:946997
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:10181076
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:10911144
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      smart00325
      Location:11751355
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      COG1196
      Location:350726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16652
      Location:13731516
      PH_13; Pleckstrin homology domain
      cd21577
      Location:106185
      KLF3_N; N-terminal domain of Kruppel-like factor 3
    4. XM_006515026.5XP_006515089.1  intersectin-2 isoform X4

      Conserved Domains (8) summary
      smart00027
      Location:15107
      EH; Eps15 homology domain
      cd11988
      Location:747803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:9731024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:10451103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:11181171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16617
      Location:806883
      INTAP; Intersectin and clathrin adaptor AP2 binding region
    5. XM_006515023.5XP_006515086.1  intersectin-2 isoform X1

      See identical proteins and their annotated locations for XP_006515086.1

      UniProtKB/Swiss-Prot
      Q8C9C3, Q9Z0R5, Q9Z0R6
      UniProtKB/TrEMBL
      B2RR82
      Conserved Domains (11) summary
      cd08375
      Location:15431677
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15107
      EH; Eps15 homology domain
      cd11988
      Location:747803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:9731024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:10451103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:11181171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:12021381
      RhoGEF; RhoGEF domain
      pfam16617
      Location:806883
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:14001554
      PH_13; Pleckstrin homology domain
    6. XM_030246627.2XP_030102487.1  intersectin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q8C9C3, Q9Z0R5, Q9Z0R6
      UniProtKB/TrEMBL
      B2RR82
      Conserved Domains (11) summary
      cd08375
      Location:15431677
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15107
      EH; Eps15 homology domain
      cd11988
      Location:747803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:9731024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:10451103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:11181171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:12021381
      RhoGEF; RhoGEF domain
      pfam16617
      Location:806883
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:14001554
      PH_13; Pleckstrin homology domain
    7. XM_006515025.5XP_006515088.1  intersectin-2 isoform X2

      UniProtKB/Swiss-Prot
      Q8C9C3, Q9Z0R5, Q9Z0R6
      Conserved Domains (11) summary
      cd08375
      Location:15291663
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:193
      EH; Eps15 homology domain
      cd11988
      Location:733789
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:869920
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:9591010
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:10311089
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:11041157
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:336733
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:11881367
      RhoGEF; RhoGEF domain
      pfam16617
      Location:792869
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:13861540
      PH_13; Pleckstrin homology domain

    RNA

    1. XR_004937468.1 RNA Sequence

    2. XR_004937467.1 RNA Sequence

      Related
      ENSMUST00000219832.2
    3. XR_004937469.1 RNA Sequence