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    Itsn2 intersectin 2 [ Mus musculus (house mouse) ]

    Gene ID: 20403, updated on 27-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 7.2), spleen adult (RPKM 6.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. LymphoAtlas: a dynamic and integrated phosphoproteomic resource of TCR signaling in primary T cells reveals ITSN2 as a regulator of effector functions. Locard-Paulet M, et al. Mol Syst Biol, 2020 Jul. PMID 32618424, Free PMC Article
    2. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Ashraf S, et al. Nat Commun, 2018 May 17. PMID 29773874, Free PMC Article
    3. Intersectin 2 controls actin cap formation and meiotic division in mouse oocytes through the Cdc42 pathway. Zhang J, et al. FASEB J, 2017 Oct. PMID 28626024
    4. Intersectin deficiency impairs cortico-striatal neurotransmission and causes obsessive-compulsive behaviors in mice. Vollweiter D, et al. Proc Natl Acad Sci U S A, 2023 Aug 29. PMID 37603735, Free PMC Article
    5. Exon Inclusion Modulates Conformational Plasticity and Autoinhibition of the Intersectin 1 SH3A Domain. Gerth F, et al. Structure, 2019 Jun 4. PMID 31031201

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LymphoAtlas: a dynamic and integrated phosphoproteomic resource of TCR signaling in primary T cells reveals ITSN2 as a regulator of effector functions.
      Title: LymphoAtlas: a dynamic and integrated phosphoproteomic resource of TCR signaling in primary T cells reveals ITSN2 as a regulator of effector functions.
    2. In conclusion, this study revealed a key role for ITSN2 in regulation of adaptive immune-response during vaccination and viral infection.
      Title: Tuning of in vivo cognate B-T cell interactions by Intersectin 2 is required for effective anti-viral B cell immunity.
    3. Intersectin 2 depletion induces the inactivation of Cdc42
      Title: Intersectin 2 controls actin cap formation and meiotic division in mouse oocytes through the Cdc42 pathway.
    4. The isolation and characterization of ESE2 is reported.
      Title: Determination of the consensus DNA-binding sequence and a transcriptional activation domain for ESE-2.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    acts_upstream_of_or_within cell-cell signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    acts_upstream_of_or_within endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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

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    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_001198968.2 → NP_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:1543 → 1677
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15 → 107
      EH; Eps15 homology domain
      cd11988
      Location:747 → 803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883 → 934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:973 → 1024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:1045 → 1103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:1118 → 1171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350 → 747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:1202 → 1381
      RhoGEF; RhoGEF domain
      pfam16617
      Location:806 → 883
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:1400 → 1554
      PH_13; Pleckstrin homology domain

    2. NM_001198969.2 → NP_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:15 → 107
      EH; Eps15 homology domain
      cd00052
      Location:249 → 315
      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:250 → 307
      EF-hand_7; EF-hand domain pair
      cl19219
      Location:521 → 614
      DUF342; Protein of unknown function (DUF342)
      cl23720
      Location:343 → 429
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    3. NM_011365.4 → NP_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:1516 → 1650
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15 → 107
      EH; Eps15 homology domain
      cd11988
      Location:720 → 776
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:856 → 907
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:946 → 997
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:1018 → 1076
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:1091 → 1144
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      smart00325
      Location:1175 → 1355
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      COG1196
      Location:350 → 726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16652
      Location:1373 → 1516
      PH_13; Pleckstrin homology domain
      cd21577
      Location:106 → 185
      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_006515024.5 → XP_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:1543 → 1677
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15 → 107
      EH; Eps15 homology domain
      cd11988
      Location:747 → 803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883 → 934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:973 → 1024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:1045 → 1103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:1118 → 1171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350 → 747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:1202 → 1381
      RhoGEF; RhoGEF domain
      pfam16617
      Location:806 → 883
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:1400 → 1554
      PH_13; Pleckstrin homology domain

    2. XM_006515027.5 → XP_006515090.1  intersectin-2 isoform X5

      Conserved Domains (8) summary
      smart00027
      Location:15 → 107
      EH; Eps15 homology domain
      cd11988
      Location:720 → 776
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:856 → 907
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:946 → 997
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:1018 → 1076
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:1091 → 1144
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350 → 726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16617
      Location:779 → 856
      INTAP; Intersectin and clathrin adaptor AP2 binding region

    3. XM_036157276.1 → XP_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:1516 → 1650
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15 → 107
      EH; Eps15 homology domain
      cd11988
      Location:720 → 776
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:856 → 907
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:946 → 997
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:1018 → 1076
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:1091 → 1144
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      smart00325
      Location:1175 → 1355
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      COG1196
      Location:350 → 726
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16652
      Location:1373 → 1516
      PH_13; Pleckstrin homology domain
      cd21577
      Location:106 → 185
      KLF3_N; N-terminal domain of Kruppel-like factor 3

    4. XM_006515026.5 → XP_006515089.1  intersectin-2 isoform X4

      Conserved Domains (8) summary
      smart00027
      Location:15 → 107
      EH; Eps15 homology domain
      cd11988
      Location:747 → 803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883 → 934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:973 → 1024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:1045 → 1103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:1118 → 1171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350 → 747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16617
      Location:806 → 883
      INTAP; Intersectin and clathrin adaptor AP2 binding region

    5. XM_006515023.5 → XP_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:1543 → 1677
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15 → 107
      EH; Eps15 homology domain
      cd11988
      Location:747 → 803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883 → 934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:973 → 1024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:1045 → 1103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:1118 → 1171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350 → 747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:1202 → 1381
      RhoGEF; RhoGEF domain
      pfam16617
      Location:806 → 883
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:1400 → 1554
      PH_13; Pleckstrin homology domain

    6. XM_030246627.2 → XP_030102487.1  intersectin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q8C9C3, Q9Z0R5, Q9Z0R6
      UniProtKB/TrEMBL
      B2RR82
      Conserved Domains (11) summary
      cd08375
      Location:1543 → 1677
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:15 → 107
      EH; Eps15 homology domain
      cd11988
      Location:747 → 803
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:883 → 934
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:973 → 1024
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:1045 → 1103
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:1118 → 1171
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:350 → 747
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:1202 → 1381
      RhoGEF; RhoGEF domain
      pfam16617
      Location:806 → 883
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:1400 → 1554
      PH_13; Pleckstrin homology domain

    7. XM_006515025.5 → XP_006515088.1  intersectin-2 isoform X2

      UniProtKB/Swiss-Prot
      Q8C9C3, Q9Z0R5, Q9Z0R6
      Conserved Domains (11) summary
      cd08375
      Location:1529 → 1663
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:1 → 93
      EH; Eps15 homology domain
      cd11988
      Location:733 → 789
      SH3_Intersectin2_1; First Src homology 3 domain (or SH3A) of Intersectin-2
      cd11990
      Location:869 → 920
      SH3_Intersectin2_2; Second Src homology 3 domain (or SH3B) of Intersectin-2
      cd11992
      Location:959 → 1010
      SH3_Intersectin2_3; Third Src homology 3 domain (or SH3C) of Intersectin-2
      cd11994
      Location:1031 → 1089
      SH3_Intersectin2_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-2
      cd11996
      Location:1104 → 1157
      SH3_Intersectin2_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-2
      COG1196
      Location:336 → 733
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00621
      Location:1188 → 1367
      RhoGEF; RhoGEF domain
      pfam16617
      Location:792 → 869
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      pfam16652
      Location:1386 → 1540
      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

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z0R6.2 GenPept UniProtKB/Swiss-Prot:Q9Z0R6

    Gene LinkOut

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