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    FCHO2 FCH and mu domain containing endocytic adaptor 2 [ Homo sapiens (human) ]

    Gene ID: 115548, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FCHO2provided by HGNC
    Official Full Name
    FCH and mu domain containing endocytic adaptor 2provided by HGNC
    Primary source
    HGNC:HGNC:25180
    See related
    Ensembl:ENSG00000157107 MIM:613438; AllianceGenome:HGNC:25180
    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
    Summary
    Enables identical protein binding activity. Involved in clathrin coat assembly and clathrin-dependent endocytosis. Located in clathrin-coated pit and clathrin-coated vesicle. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 12.4), thyroid (RPKM 12.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FCHO2 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (72956041..73090522)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (73437124..73571849)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (72251868..72386349)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene transportin 1 Neighboring gene ribosomal protein L35a pseudogene 13 Neighboring gene FCHO2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16086 Neighboring gene CTDNEP1 pseudogene 2 Neighboring gene CHP1 pseudogene 1 Neighboring gene uncharacterized LOC124901001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:72415241-72415792 Neighboring gene transmembrane protein 171

    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. Structural organization and dynamics of FCHo2 docking on membranes. El Alaoui F, et al. Elife, 2022 Jan 19. PMID 35044298, Free PMC Article
    2. Circular RNA circFCHO2(hsa_circ_0002490) promotes the proliferation of melanoma by directly binding to DND1. Yang Y, et al. Cell Biol Toxicol, 2024 Feb 5. PMID 38311675, Free PMC Article
    3. A clathrin coat assembly role for the muniscin protein central linker revealed by TALEN-mediated gene editing. Umasankar PK, et al. Elife, 2014 Oct 10. PMID 25303365, Free PMC Article
    4. Identification and characterization of human FCHO2 and mouse Fcho2 genes in silico. Katoh M, et al. Int J Mol Med, 2004 Aug. PMID 15254787
    5. circFCHO2 promotes gastric cancer progression by activating the JAK1/STAT3 pathway via sponging miR-194-5p. Zhang Z, et al. Cell Cycle, 2022 Oct. PMID 35708677, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA circFCHO2(hsa_circ_0002490) promotes the proliferation of melanoma by directly binding to DND1.
      Title: Circular RNA circFCHO2(hsa_circ_0002490) promotes the proliferation of melanoma by directly binding to DND1.
    2. circFCHO2 promotes gastric cancer progression by activating the JAK1/STAT3 pathway via sponging miR-194-5p.
      Title: circFCHO2 promotes gastric cancer progression by activating the JAK1/STAT3 pathway via sponging miR-194-5p.
    3. Structural organization and dynamics of FCHo2 docking on membranes.
      Title: Structural organization and dynamics of FCHo2 docking on membranes.
    4. Liquid-like protein interactions catalyse assembly of endocytic vesicles.
      Title: Liquid-like protein interactions catalyse assembly of endocytic vesicles.
    5. Fcho1/2Eps15/RAP-2 ternary complexes to facilitate conformational activation of AP-2 by the Fcho1/2 interdomain linker to promote AP-2 cargo engagement.
      Title: Transient Fcho1/2⋅Eps15/R⋅AP-2 Nanoclusters Prime the AP-2 Clathrin Adaptor for Cargo Binding.
    6. The central linker of FCHO proteins acts as an allosteric regulator of the prime endocytic adaptor, AP-2.
      Title: A clathrin coat assembly role for the muniscin protein central linker revealed by TALEN-mediated gene editing.
    7. FCHO2 regulates the size of clathrin structures, and its interaction with Dab2 is needed for LDLR endocytosis under conditions of low AP2.
      Title: FCH domain only-2 organizes clathrin-coated structures and interacts with Disabled-2 for low-density lipoprotein receptor endocytosis.
    8. show that the mu-homology domain of FCHO1/2 represents an endocytic interaction hub
      Title: Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning.
    9. This structure shows a distant relationship to curvature-sensing BAR modules, and suggests how similar coiled-coil architectures in the BAR superfamily have evolved to expand the repertoire of membrane-sculpting possibilities
      Title: Structure and analysis of FCHo2 F-BAR domain: a dimerizing and membrane recruitment module that effects membrane curvature.
    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

    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

    Pathways from PubChem

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    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 GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphatidylinositol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylserine binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in clathrin coat assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in clathrin coat assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in clathrin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in clathrin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane invagination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in clathrin-coated pit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in clathrin-coated vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    F-BAR domain only protein 2
    Names
    FCH domain only 2
    FCH domain only protein 2

    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_001146032.2 → NP_001139504.1  F-BAR domain only protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The encoded isoform (b) is shorter compared to isoform a.
      Source sequence(s)
      AK295141, AL832928, BC137070
      Consensus CDS
      CCDS54868.1
      UniProtKB/Swiss-Prot
      Q0JRZ9
      Related
      ENSP00000427296.1, ENST00000512348.5
      Conserved Domains (2) summary
      cd09267
      Location:511 → 777
      FCHo2_MHD; mu-homology domain (MHD) of F-BAR domain-containing Fer/Cip4 homology domain-only protein 2 (FCH domain only 2 or FCHo2) and similar proteins
      cl12013
      Location:5 → 240
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. NM_138782.3 → NP_620137.2  F-BAR domain only protein 2 isoform a

      See identical proteins and their annotated locations for NP_620137.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL832928, BC137070
      Consensus CDS
      CCDS47230.1
      UniProtKB/Swiss-Prot
      A8K6W7, B2RNQ9, B4DHK0, E9PG79, Q0JRZ9, Q0JTJ3, Q96CF5
      Related
      ENSP00000393776.2, ENST00000430046.7
      Conserved Domains (2) summary
      cd07673
      Location:5 → 273
      F-BAR_FCHO2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH domain Only 2 protein
      cd09267
      Location:544 → 810
      FCHo2_MHD; mu-homology domain (MHD) of F-BAR domain-containing Fer/Cip4 homology domain-only protein 2 (FCH domain only 2 or FCHo2) and similar proteins

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      72956041..73090522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009016.3 → XP_016864505.1  F-BAR domain only protein 2 isoform X1

    2. XM_017009017.3 → XP_016864506.1  F-BAR domain only protein 2 isoform X2

    3. XM_017009020.3 → XP_016864509.1  F-BAR domain only protein 2 isoform X5

    4. XM_017009021.3 → XP_016864510.1  F-BAR domain only protein 2 isoform X5

    5. XM_017009018.3 → XP_016864507.1  F-BAR domain only protein 2 isoform X3

    6. XM_017009019.3 → XP_016864508.1  F-BAR domain only protein 2 isoform X4

    7. XM_017009022.3 → XP_016864511.1  F-BAR domain only protein 2 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      73437124..73571849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351556.1 → XP_054207531.1  F-BAR domain only protein 2 isoform X1

    2. XM_054351557.1 → XP_054207532.1  F-BAR domain only protein 2 isoform X2

    3. XM_054351560.1 → XP_054207535.1  F-BAR domain only protein 2 isoform X5

    4. XM_054351561.1 → XP_054207536.1  F-BAR domain only protein 2 isoform X5

    5. XM_054351558.1 → XP_054207533.1  F-BAR domain only protein 2 isoform X3

    6. XM_054351559.1 → XP_054207534.1  F-BAR domain only protein 2 isoform X4

    7. XM_054351562.1 → XP_054207537.1  F-BAR domain only protein 2 isoform X6

    8. XM_054351563.1 → XP_054207538.1  F-BAR domain only protein 2 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0JRZ9.2 GenPept UniProtKB/Swiss-Prot:Q0JRZ9

    Gene LinkOut

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