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    FCHSD2 FCH and double SH3 domains 2 [ Homo sapiens (human) ]

    Gene ID: 9873, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FCHSD2provided by HGNC
    Official Full Name
    FCH and double SH3 domains 2provided by HGNC
    Primary source
    HGNC:HGNC:29114
    See related
    Ensembl:ENSG00000137478 MIM:617556; AllianceGenome:HGNC:29114
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NWK; NWK1; SH3MD3
    Summary
    Enables phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in clathrin-dependent endocytosis and positive regulation of Arp2/3 complex-mediated actin nucleation. Located in clathrin-coated pit and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 18.6), lymph node (RPKM 17.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FCHSD2 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72836745..73142318, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72764983..73070534, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (72547790..72853363, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72497138-72498136 Neighboring gene StAR related lipid transfer domain containing 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72498137-72499133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72503217-72503716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:72509227-72509964 Neighboring gene uncharacterized LOC107984421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5209 Neighboring gene microRNA 4692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72537383-72537883 Neighboring gene autophagy related 16 like 2 Neighboring gene NANOG hESC enhancer GRCh37_chr11:72559943-72560444 Neighboring gene RNA, U6 small nuclear 672, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15519 Neighboring gene ribosomal protein L15 pseudogene 16 Neighboring gene MPRA-validated peak1347 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72851339-72851960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72851961-72852582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5226 Neighboring gene Sharpr-MPRA regulatory region 14106 Neighboring gene imatinib upregulated ABL suppressing lncRNA 1 Neighboring gene uncharacterized LOC124902709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:72929160-72929878

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Pulmonary edema in hangings]. Petitjean C, et al. Ann Anesthesiol Fr, 1975. PMID 9873
    2. FCHSD2 predicts response to chemotherapy in acute myeloid leukemia patients. Han Y, et al. Leuk Res, 2012 Nov. PMID 22902056
    3. FCHSD2 controls oncogenic ERK1/2 signaling outcome by regulating endocytic trafficking. Xiao GY, et al. PLoS Biol, 2020 Jul. PMID 32678845, Free PMC Article
    4. Endocytosis and membrane receptor internalization: implication of F-BAR protein Carom. Xu Y, et al. Front Biosci (Landmark Ed), 2017 Mar 1. PMID 28199211, Free PMC Article
    5. Endosomal actin branching, fission, and receptor recycling require FCHSD2 recruitment by MICAL-L1. Frisby D, et al. Mol Biol Cell, 2024 Nov 1. PMID 39382837

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Endosomal actin branching, fission, and receptor recycling require FCHSD2 recruitment by MICAL-L1.
      Title: Endosomal actin branching, fission, and receptor recycling require FCHSD2 recruitment by MICAL-L1.
    2. FCHSD2 cooperates with CDC42 and N-WASP to regulate cell protrusion formation.
      Title: FCHSD2 cooperates with CDC42 and N-WASP to regulate cell protrusion formation.
    3. FCHSD2 controls oncogenic ERK1/2 signaling outcome by regulating endocytic trafficking.
      Title: FCHSD2 controls oncogenic ERK1/2 signaling outcome by regulating endocytic trafficking.
    4. Loss of FCHSD2 activity in nonsmall cell lung cancer (NSCLC) cells leads to increased cell-surface expression and altered signaling downstream of EGFR, resulting in enhanced cell proliferation and migration.
      Title: Role for ERK1/2-dependent activation of FCHSD2 in cancer cell-selective regulation of clathrin-mediated endocytosis.
    5. Established 3 models of Carom-receptor complexes and their intracellular trafficking based on protein interaction and subcellular localization. Carom may mediate receptor endocytosis and transport endocytic receptors to the cytoplasm for receptor signaling and lysosome/proteasome degradation. Review.
      Title: Endocytosis and membrane receptor internalization: implication of F-BAR protein Carom.
    6. A novel SNP-systemic lupus erythematosus association was identified between FCHSD2 and P2RY2, peaking at rs11235667 on a 33-kb haplotype upstream of ATG16L2.
      Title: Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.
    7. our study, for the first time, demonstrates FCHSD2 as a predictor of outcome for Acute myeloid leukemia patients
      Title: FCHSD2 predicts response to chemotherapy in acute myeloid leukemia patients.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0769

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3,4-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in clathrin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in 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
    		  
    colocalizes_with clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stereocilium shaft ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    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
    carom
    nervous wreck homolog
    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_014824.3 → NP_055639.2  F-BAR and double SH3 domains protein 2

      See identical proteins and their annotated locations for NP_055639.2

      Status: VALIDATED

      Source sequence(s)
      AP002381, AP002455, AP004241
      Consensus CDS
      CCDS8218.2
      UniProtKB/Swiss-Prot
      B4DNI3, O94868, Q7L8J9, Q8WVM2, Q96FV7, Q9UF77
      Related
      ENSP00000386722.4, ENST00000409418.9
      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: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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      72836745..73142318 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545409.2 → XP_011543711.1  F-BAR and double SH3 domains protein 2 isoform X1

      UniProtKB/TrEMBL
      E7ENZ2
      Conserved Domains (3) summary
      cd07677
      Location:1 → 254
      F-BAR_FCHSD2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 2 (FCHSD2)
      cd11761
      Location:450 → 506
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cd11894
      Location:550 → 605
      SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2

    2. XM_011545410.3 → XP_011543712.1  F-BAR and double SH3 domains protein 2 isoform X2

      UniProtKB/TrEMBL
      E7ENZ2
      Conserved Domains (3) summary
      cd11761
      Location:446 → 502
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cd11894
      Location:546 → 601
      SH3_FCHSD2_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 2
      cl12013
      Location:30 → 250
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. XM_047427949.1 → XP_047283905.1  F-BAR and double SH3 domains protein 2 isoform X3

      Related
      ENSP00000308978.7, ENST00000311172.11

    4. XM_047427950.1 → XP_047283906.1  F-BAR and double SH3 domains protein 2 isoform X4

      Related
      ENSP00000386314.1, ENST00000409853.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      72764983..73070534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370677.1 → XP_054226652.1  F-BAR and double SH3 domains protein 2 isoform X1

    2. XM_054370678.1 → XP_054226653.1  F-BAR and double SH3 domains protein 2 isoform X2

    3. XM_054370679.1 → XP_054226654.1  F-BAR and double SH3 domains protein 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94868.3 GenPept UniProtKB/Swiss-Prot:O94868

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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