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    Fchsd2 FCH and double SH3 domains 2 [ Mus musculus (house mouse) ]

    Gene ID: 207278, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Fchsd2provided by MGI
    Official Full Name
    FCH and double SH3 domains 2provided by MGI
    Primary source
    MGI:MGI:2448475
    See related
    Ensembl:ENSMUSG00000030691 AllianceGenome:MGI:2448475
    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
    NWK1; Sh3md3; mKIAA0769
    Summary
    Predicted to enable phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in multi-organism membrane organization and positive regulation of actin filament polymerization. Located in stereocilium shaft. Is expressed in tail dorsal root ganglion and trigeminal ganglion. Orthologous to human FCHSD2 (FCH and double SH3 domains 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 15.4), whole brain E14.5 (RPKM 12.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 E2; 7 54.5 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (100757836..100933613)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (101108499..101284405)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene purinergic receptor P2Y, G-protein coupled 2 Neighboring gene STARR-positive B cell enhancer ABC_E1348 Neighboring gene STARR-positive B cell enhancer ABC_E11362 Neighboring gene STARR-positive B cell enhancer ABC_E4956 Neighboring gene STARR-positive B cell enhancer ABC_E8192 Neighboring gene ribosomal protein S29 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:108241274-108241427 Neighboring gene STARR-positive B cell enhancer ABC_E11363 Neighboring gene STARR-positive B cell enhancer mm9_chr7:108256776-108257077 Neighboring gene ribosomal protein L27 pseudogene Neighboring gene STARR-seq mESC enhancer starr_19687 Neighboring gene STARR-seq mESC enhancer starr_19688 Neighboring gene STARR-positive B cell enhancer mm9_chr7:108360202-108360503 Neighboring gene STARR-positive B cell enhancer mm9_chr7:108362308-108362608 Neighboring gene STARR-positive B cell enhancer ABC_E2835 Neighboring gene predicted gene, 47324 Neighboring gene predicted gene, 50587 Neighboring gene predicted gene, 57508 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:108450776-108450959 Neighboring gene STARR-seq mESC enhancer starr_19689 Neighboring gene autophagy related 16 like 2 Neighboring gene STARR-positive B cell enhancer ABC_E1349 Neighboring gene StAR related lipid transfer domain containing 10 Neighboring gene predicted gene 20476

    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. Identification and characterization of human FCHSD1 and FCHSD2 genes in silico. Katoh M, et al. Int J Mol Med, 2004 May. PMID 15067381
    2. Formation of membrane ridges and scallops by the F-BAR protein Nervous Wreck. Becalska AN, et al. Mol Biol Cell, 2013 Aug. PMID 23761074, Free PMC Article
    3. FCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro. Cao H, et al. PLoS One, 2013. PMID 23437151, Free PMC Article
    4. Decreased Anxiety-Related Behaviour but Apparently Unperturbed NUMB Function in Ligand of NUMB Protein-X (LNX) 1/2 Double Knockout Mice. Lenihan JA, et al. Mol Neurobiol, 2017 Dec. PMID 27889896
    5. Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes. Bulfone A, et al. J Neurosci, 2005 Aug 17. PMID 16107646, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our results suggest that FCHSD1 and FCHSD2 could modulate F-actin assembly or maintenance in hair cell stereocilia and cuticular plate.
      Title: FCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    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 lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3,4-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in clathrin-dependent endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of Arp2/3 complex-mediated actin nucleation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with clathrin-coated pit ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stereocilium shaft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    F-BAR and double SH3 domains protein 2
    Names
    FCH and double SH3 domains protein 2
    SH3 multiple domains 3
    SH3 multiple domains protein 3
    protein nervous wreck 1

    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_001146010.2 → NP_001139482.1  F-BAR and double SH3 domains protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001139482.1

      Status: VALIDATED

      Source sequence(s)
      AC107638, AC150313
      Consensus CDS
      CCDS52328.1
      UniProtKB/Swiss-Prot
      Q3UQZ2, Q3USJ8, Q6P9R0, Q80TS2
      Related
      ENSMUSP00000095850.4, ENSMUST00000098250.10
      Conserved Domains (3) summary
      cd07677
      Location:16 → 275
      F-BAR_FCHSD2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 2 (FCHSD2)
      cd11761
      Location:471 → 527
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cd11894
      Location:571 → 626
      SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2

    2. NM_001420352.1 → NP_001407281.1  F-BAR and double SH3 domains protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC107638, AC150313

    3. NM_001420353.1 → NP_001407282.1  F-BAR and double SH3 domains protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC107638, AC150313

    4. NM_199012.3 → NP_950177.2  F-BAR and double SH3 domains protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC107638, AC150313
      Consensus CDS
      CCDS52327.1
      UniProtKB/Swiss-Prot
      Q3USJ8
      Related
      ENSMUSP00000032931.8, ENSMUST00000032931.9
      Conserved Domains (3) summary
      cd07677
      Location:16 → 275
      F-BAR_FCHSD2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 2 (FCHSD2)
      cd11761
      Location:495 → 551
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cd11894
      Location:595 → 650
      SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      100757836..100933613
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006507518.4 → XP_006507581.1  F-BAR and double SH3 domains protein 2 isoform X3

      Conserved Domains (3) summary
      cd11761
      Location:335 → 391
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cd11894
      Location:435 → 490
      SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2
      cl12013
      Location:1 → 115
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. XM_006507517.4 → XP_006507580.1  F-BAR and double SH3 domains protein 2 isoform X1

      Conserved Domains (3) summary
      cd11761
      Location:413 → 469
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cd11894
      Location:513 → 568
      SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2
      cl12013
      Location:1 → 193
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3USJ8.2 GenPept UniProtKB/Swiss-Prot:Q3USJ8

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