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Aliases for FCHO2 Gene

Aliases for FCHO2 Gene

  • FCH Domain Only 2 2 3 5

External Ids for FCHO2 Gene

Previous GeneCards Identifiers for FCHO2 Gene

  • GC05P072287
  • GC05P067457

Summaries for FCHO2 Gene

GeneCards Summary for FCHO2 Gene

FCHO2 (FCH Domain Only 2) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding and phosphatidylserine binding. An important paralog of this gene is FCHO1.

UniProtKB/Swiss-Prot for FCHO2 Gene

  • Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP-2-dependent endocytosis of the transferrin receptor, it also functions in the AP-2-independent endocytosis of the LDL receptor.

Gene Wiki entry for FCHO2 Gene

Additional gene information for FCHO2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FCHO2 Gene

Genomics for FCHO2 Gene

GeneHancer (GH) Regulatory Elements for FCHO2 Gene

Promoters and enhancers for FCHO2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I072953 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 566 -0.4 -402 4.8 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 FCHO2 ENSG00000272081 ENSG00000271926 ENSG00000249085
GH05I072319 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 41.5 -635.6 -635612 2.7 FOXA2 PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MRPS27 PTCD2 FCHO2 TNPO1 BDP1 RPL7P22
GH05I072106 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.8 -846.9 -846932 5.1 PKNOX1 SMAD1 ARID4B SIN3A POLR2B CBX5 ZNF143 SP3 SP5 REST MAP1B LOC105379028 BDP1 TNPO1 FCHO2 LOC653406 GUSBP9 RPL7P22 PTCD2 GC05P072152
GH05I072846 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.4 -107.3 -107317 4.1 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 TNPO1 ENSG00000249085 FCHO2 UTP15 ANKRA2 RPL7P22 MRPS27 GC05P072869
GH05I072815 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.9 -138.6 -138625 4.7 SMAD1 ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B ZNF766 ZNF213 ZNF143 ENSG00000249085 GC05M072783 TNPO1 UTP15 FCHO2 ANKRA2 RPL7P22 MRPS27 ENSG00000272081 GC05P072869
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FCHO2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FCHO2 gene promoter:

Genomic Locations for FCHO2 Gene

Genomic Locations for FCHO2 Gene
chr5:72,955,981-73,090,522
(GRCh38/hg38)
Size:
134,542 bases
Orientation:
Plus strand
chr5:72,251,808-72,386,349
(GRCh37/hg19)

Genomic View for FCHO2 Gene

Genes around FCHO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FCHO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FCHO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FCHO2 Gene

Proteins for FCHO2 Gene

  • Protein details for FCHO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0JRZ9-FCHO2_HUMAN
    Recommended name:
    F-BAR domain only protein 2
    Protein Accession:
    Q0JRZ9
    Secondary Accessions:
    • A8K6W7
    • B2RNQ9
    • B4DHK0
    • E9PG79
    • Q0JTJ3
    • Q96CF5

    Protein attributes for FCHO2 Gene

    Size:
    810 amino acids
    Molecular mass:
    88924 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. May form homotetramer. Interacts with AP2A1. Interacts with EPS15, EPS15R, ITSN1 and ITSN2; recruit those scaffolding proteins which in turn may interact with the adaptor protein complex AP-2 at the plasma membrane. Interacts with DAB2 (via DPF motifs); mediates LDL receptor/LDLR endocytosis.
    Miscellaneous:
    • Deforms liposomes into a range of tubule diameters from 20 to 130 nm in vitro.
    SequenceCaution:
    • Sequence=AAH14311.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FCHO2 Gene

    Alternative splice isoforms for FCHO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FCHO2 Gene

Post-translational modifications for FCHO2 Gene

  • Ubiquitinated. Mainly undergoes monoubiquitination but also polyubiquitination (By similarity).
  • Ubiquitination at posLast=5858

No data available for DME Specific Peptides for FCHO2 Gene

Domains & Families for FCHO2 Gene

Gene Families for FCHO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FCHO2 Gene

Suggested Antigen Peptide Sequences for FCHO2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q0JRZ9

UniProtKB/Swiss-Prot:

FCHO2_HUMAN :
  • Belongs to the FCHO family.
Family:
  • Belongs to the FCHO family.
genes like me logo Genes that share domains with FCHO2: view

Function for FCHO2 Gene

Molecular function for FCHO2 Gene

UniProtKB/Swiss-Prot Function:
Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP-2-dependent endocytosis of the transferrin receptor, it also functions in the AP-2-independent endocytosis of the LDL receptor.

Phenotypes From GWAS Catalog for FCHO2 Gene

Gene Ontology (GO) - Molecular Function for FCHO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding ISS --
GO:0005515 protein binding IPI 19380743
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS --
GO:0035091 phosphatidylinositol binding ISS --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with FCHO2: view
genes like me logo Genes that share phenotypes with FCHO2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FCHO2 Gene

Localization for FCHO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FCHO2 Gene

Membrane, clathrin-coated pit; Peripheral membrane protein; Cytoplasmic side. Note=Associated with forming but not mature clathrin-coated vesicles. The recruitment to coated-pits precede the one of clathrin and the adaptor protein complex AP-2 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FCHO2 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FCHO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
GO:0005905 clathrin-coated pit IDA,IEA 21762413
GO:0016020 membrane IEA --
GO:0030136 clathrin-coated vesicle IDA 21762413
genes like me logo Genes that share ontologies with FCHO2: view

Pathways & Interactions for FCHO2 Gene

genes like me logo Genes that share pathways with FCHO2: view

Gene Ontology (GO) - Biological Process for FCHO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0010324 membrane invagination ISS --
GO:0048268 clathrin coat assembly IMP 20448150
GO:0048488 synaptic vesicle endocytosis IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with FCHO2: view

No data available for SIGNOR curated interactions for FCHO2 Gene

Drugs & Compounds for FCHO2 Gene

No Compound Related Data Available

Transcripts for FCHO2 Gene

Unigene Clusters for FCHO2 Gene

FCH domain only 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FCHO2 Gene

No ASD Table

Relevant External Links for FCHO2 Gene

GeneLoc Exon Structure for
FCHO2
ECgene alternative splicing isoforms for
FCHO2

Expression for FCHO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FCHO2 Gene

Protein differential expression in normal tissues from HIPED for FCHO2 Gene

This gene is overexpressed in Cervix (23.0), Plasma (9.4), Spleen (7.4), and Serum (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FCHO2 Gene



NURSA nuclear receptor signaling pathways regulating expression of FCHO2 Gene:

FCHO2

SOURCE GeneReport for Unigene cluster for FCHO2 Gene:

Hs.165762

Evidence on tissue expression from TISSUES for FCHO2 Gene

  • Lung(4.3)
  • Liver(4.2)
  • Muscle(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with FCHO2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FCHO2 Gene

Orthologs for FCHO2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FCHO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FCHO2 34 33
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FCHO2 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FCHO2 34 33
  • 93.84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fcho2 33
  • 90.94 (n)
mouse
(Mus musculus)
Mammalia Fcho2 16 34 33
  • 90.03 (n)
oppossum
(Monodelphis domestica)
Mammalia FCHO2 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 51 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FCHO2 33
  • 82.24 (n)
lizard
(Anolis carolinensis)
Reptilia FCHO2 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fcho2 33
  • 74.78 (n)
Str.1488 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33576 33
zebrafish
(Danio rerio)
Actinopterygii fcho2 33
  • 66.54 (n)
si:dkey-24m12.3 34
  • 33 (a)
ManyToMany
sbcb304 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002024 33
  • 52.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8176 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fcho-1 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for FCHO2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FCHO2 Gene

ENSEMBL:
Gene Tree for FCHO2 (if available)
TreeFam:
Gene Tree for FCHO2 (if available)

Paralogs for FCHO2 Gene

Paralogs for FCHO2 Gene

Pseudogenes.org Pseudogenes for FCHO2 Gene

genes like me logo Genes that share paralogs with FCHO2: view

Variants for FCHO2 Gene

Sequence variations from dbSNP and Humsavar for FCHO2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000008113 -- 72,974,488(+) GG/G intron_variant
rs1000015106 -- 73,074,244(+) A/C genic_downstream_transcript_variant, intron_variant
rs1000042595 -- 73,030,205(+) C/T intron_variant
rs1000064934 -- 72,982,378(+) T/C intron_variant
rs1000092244 -- 73,036,697(+) T/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FCHO2 Gene

Variant ID Type Subtype PubMed ID
esv2730298 CNV deletion 23290073
esv2730299 CNV deletion 23290073
esv27712 CNV loss 19812545
esv3310324 CNV mobile element insertion 20981092
esv3358480 CNV insertion 20981092
esv3394174 CNV insertion 20981092
esv3605410 CNV loss 21293372
nsv525479 CNV loss 19592680
nsv830343 CNV loss 17160897
nsv980683 CNV duplication 23825009

Variation tolerance for FCHO2 Gene

Residual Variation Intolerance Score: 35.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.14; 75.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FCHO2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FCHO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FCHO2 Gene

Disorders for FCHO2 Gene

Additional Disease Information for FCHO2

No disorders were found for FCHO2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FCHO2 Gene

Publications for FCHO2 Gene

  1. FCH domain only-2 organizes clathrin-coated structures and interacts with Disabled-2 for low-density lipoprotein receptor endocytosis. (PMID: 22323290) Mulkearns EE … Cooper JA (Molecular biology of the cell 2012) 3 4 58
  2. Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning. (PMID: 22484487) Umasankar PK … Traub LM (Nature cell biology 2012) 3 4 58
  3. Characterization of the EFC/F-BAR domain protein, FCHO2. (PMID: 21762413) Uezu A … Nakanishi H (Genes to cells : devoted to molecular & cellular mechanisms 2011) 3 4 58
  4. FCHo proteins are nucleators of clathrin-mediated endocytosis. (PMID: 20448150) Henne WM … McMahon HT (Science (New York, N.Y.) 2010) 3 4 58
  5. Structure and analysis of FCHo2 F-BAR domain: a dimerizing and membrane recruitment module that effects membrane curvature. (PMID: 17540576) Henne WM … McMahon HT (Structure (London, England : 1993) 2007) 3 4 58

Products for FCHO2 Gene

Sources for FCHO2 Gene

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