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Itsn2 intersectin 2 [ Mus musculus (house mouse) ]

Gene ID: 20403, updated on 9-Dec-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 be located in centrosome. Predicted to be active in cytoplasm; intracellular vesicle; and presynaptic membrane. Is expressed in several structures, including endocrine gland; hemolymphoid system; ileum; male reproductive gland or organ; and nervous system. Used to study nephrotic syndrome. Orthologous to human ITSN2 (intersectin 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in thymus adult (RPKM 7.2), spleen adult (RPKM 6.5) and 28 other tissues See more
Orthologs
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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
  • 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

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding  
enables guanyl-nucleotide exchange factor activity  
enables molecular adaptor activity  
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in cell differentiation  
acts_upstream_of_or_within cell-cell signaling PubMed 
involved_in clathrin-dependent synaptic vesicle endocytosis  
involved_in endocytosis  
acts_upstream_of_or_within endocytosis PubMed 
involved_in endosomal transport  
involved_in positive regulation of dendrite extension  
Component Evidence Code Pubs
located_in centrosome  
is_active_in cytoplasm  
located_in cytoplasm  
is_active_in cytosol PubMed 
is_active_in intracellular vesicle  
is_active_in plasma membrane  
is_active_in presynaptic membrane  

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)

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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

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