Aliases for FCHSD2 Gene

Aliases for FCHSD2 Gene

  • FCH And Double SH3 Domains 2 2 3 5
  • F-BAR And Double SH3 Domains Protein 2 3 4
  • SH3 Multiple Domains Protein 3 3 4
  • Protein Nervous Wreck 1 3 4
  • SH3 Multiple Domains 3 2 3
  • KIAA0769 2 4
  • SH3MD3 3 4
  • Carom 3 4
  • NWK1 3 4
  • FCH And Double SH3 Domains Protein 2 3
  • Nervous Wreck Homolog 3
  • FCHSD2 5
  • NWK 3

External Ids for FCHSD2 Gene

Previous HGNC Symbols for FCHSD2 Gene

  • SH3MD3

Previous GeneCards Identifiers for FCHSD2 Gene

  • GC11M072275
  • GC11M072225
  • GC11M072547
  • GC11M068842

Summaries for FCHSD2 Gene

GeneCards Summary for FCHSD2 Gene

FCHSD2 (FCH And Double SH3 Domains 2) is a Protein Coding gene. Diseases associated with FCHSD2 include Erythematosquamous Dermatosis. An important paralog of this gene is FCHSD1.

UniProtKB/Swiss-Prot Summary for FCHSD2 Gene

  • Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor (PubMed:29887380). Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling (PubMed:30249660). Recruited to clathrin-coated pits during a mid-to-late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits (PubMed:29887380). Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 3,4,5-trisphosphate (PubMed:29887380). When bound to membranes, promotes actin polymerization via its interaction with WAS and/or WASL which leads to the activation of the Arp2/3 complex. Does not promote actin polymerisation in the absence of membranes (PubMed:29887380).

Gene Wiki entry for FCHSD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FCHSD2 Gene

Genomics for FCHSD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FCHSD2 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
GH11J073138 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 612.9 +0.2 214 7.4 SP1 GATAD2A CTCF ZBTB33 HNRNPL ATF7 TEAD4 PRDM10 ZNF629 TFE3 FCHSD2 ENSG00000256568 ENSG00000256898 FAM168A PAAF1 P2RY2 ENSG00000257038 ARAP1 RELT ATG16L2
GH11J073182 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 600.3 -40.5 -40508 1.1 GATAD2A LEF1 IKZF1 MTA2 RFX1 REST DPF2 HDAC1 SOX6 FOXJ2 HSALNG0085612 LOC105369381 lnc-FCHSD2-1 FCHSD2 STARD10 P2RY2
GH11J073097 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.3 +45.0 45019 0.1 FCHSD2 lnc-STARD10-4 piR-48325-018 ATG16L2
GH11J073268 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 -129.4 -129365 7.7 HNRNPL CREB1 KDM1A TARDBP JUND FOXA1 REST IKZF2 RCOR1 CEBPA P2RY6 RELT FCHSD2 ENSG00000215841 P2RY2 ARHGEF17
GH11J073150 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 14.8 -13.1 -13057 10.3 SP1 HNRNPL GATAD2A SOX13 POLR2A RCOR2 BACH1 LARP7 ZNF143 RELA FCHSD2 STARD10 LINC01537 FAM168A piR-42694-029 ENSG00000256568 lnc-FCHSD2-1 LOC105369381 P2RY2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FCHSD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FCHSD2

Top Transcription factor binding sites by QIAGEN in the FCHSD2 gene promoter:
  • AREB6
  • Egr-4
  • Gfi-1
  • HNF-3beta
  • NF-1
  • NF-1/L
  • Sp1
  • STAT1
  • TBP
  • TFIID

Genomic Locations for FCHSD2 Gene

Genomic Locations for FCHSD2 Gene
chr11:72,836,743-73,142,682
(GRCh38/hg38)
Size:
305,940 bases
Orientation:
Minus strand
chr11:72,547,790-72,853,306
(GRCh37/hg19)
Size:
305,517 bases
Orientation:
Minus strand

Genomic View for FCHSD2 Gene

Genes around FCHSD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FCHSD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FCHSD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FCHSD2 Gene

Proteins for FCHSD2 Gene

  • Protein details for FCHSD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94868-FCSD2_HUMAN
    Recommended name:
    F-BAR and double SH3 domains protein 2
    Protein Accession:
    O94868
    Secondary Accessions:
    • B4DNI3
    • Q7L8J9
    • Q8WVM2
    • Q96FV7
    • Q9UF77

    Protein attributes for FCHSD2 Gene

    Size:
    740 amino acids
    Molecular mass:
    84276 Da
    Quaternary structure:
    • Homodimer (PubMed:29887380). Interacts (via SH3 domain 2) with ITSN1 (via SH3 domain 4). Recruited to clathrin-coated pits during a mid-to-late stage of assembly via interaction with ITSN1. Interacts (via SH3 domain 1) with WASL (PubMed:29887380). Interacts with WAS (By similarity). Interacts with CASK and MAGI1. CASK inhibits interaction with MAGI1 (PubMed:14627983).
    SequenceCaution:
    • Sequence=BAA34489.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FCHSD2 Gene

    Alternative splice isoforms for FCHSD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FCHSD2 Gene

Post-translational modifications for FCHSD2 Gene

  • Phosphorylated. Phosphorylation on a Ser residue is important for recruitment to the cell membrane and for its role in promoting endocytosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FCHSD2 Gene

Domains & Families for FCHSD2 Gene

Gene Families for FCHSD2 Gene

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

Protein Domains for FCHSD2 Gene

InterPro:
Blocks:
  • SH3 domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for FCHSD2 Gene

GenScript: Design optimal peptide antigens:
  • SH3 multiple domains protein 3 (FCSD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94868

UniProtKB/Swiss-Prot:

FCSD2_HUMAN :
  • The F-BAR domain has an atypical, flat shape and binds preferentially to flat membranes. Upon heterologous expression, the isolated F-BAR domain is localized at the cell membrane, and causes the formation of cellular protrusions.
Domain:
  • The F-BAR domain has an atypical, flat shape and binds preferentially to flat membranes. Upon heterologous expression, the isolated F-BAR domain is localized at the cell membrane, and causes the formation of cellular protrusions.
  • Recruited to clathrin-coated pits via SH3 domain 2.
  • The two SH3 domains cooperate to maintain the protein in an autoinhibited conformation that prevents promiscuous membrane binding.
genes like me logo Genes that share domains with FCHSD2: view

Function for FCHSD2 Gene

Molecular function for FCHSD2 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor (PubMed:29887380). Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling (PubMed:30249660). Recruited to clathrin-coated pits during a mid-to-late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits (PubMed:29887380). Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 3,4,5-trisphosphate (PubMed:29887380). When bound to membranes, promotes actin polymerization via its interaction with WAS and/or WASL which leads to the activation of the Arp2/3 complex. Does not promote actin polymerisation in the absence of membranes (PubMed:29887380).

Phenotypes From GWAS Catalog for FCHSD2 Gene

Gene Ontology (GO) - Molecular Function for FCHSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14627983
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 29887380
GO:0008289 lipid binding IEA --
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding IDA 29887380
genes like me logo Genes that share ontologies with FCHSD2: view
genes like me logo Genes that share phenotypes with FCHSD2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FCHSD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FCHSD2 Gene

Localization for FCHSD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FCHSD2 Gene

Cytoplasm. Cell junction. Membrane, clathrin-coated pit. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Cell projection, stereocilium. Note=Partially localized at clathrin-coated pits at the cell membrane (PubMed:30249660). Detected at the cell membrane at sites around clathrin-coated pits, very close to the clathrin-coated pits but not an intrinsic part of the clathrin-coated pits (PubMed:29887380). Colocalizes at cell-cell contacts with CDH1, but is not detected at tight junctions (PubMed:14627983). {ECO:0000269 PubMed:14627983, ECO:0000269 PubMed:29887380, ECO:0000269 PubMed:30249660}.

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 FCHSD2 gene
Compartment Confidence
plasma membrane 5
nucleus 4
endosome 3
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Focal adhesion sites (2)
  • Nuclear speckles (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FCHSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA,IDA 29887380
GO:0005905 colocalizes_with clathrin-coated pit IEA,IDA 29887380
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with FCHSD2: view

Pathways & Interactions for FCHSD2 Gene

PathCards logo

SuperPathways for FCHSD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FCHSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007274 neuromuscular synaptic transmission IBA 21873635
GO:0015031 protein transport IEA --
GO:0030833 regulation of actin filament polymerization IBA 21873635
GO:0030838 positive regulation of actin filament polymerization ISS --
genes like me logo Genes that share ontologies with FCHSD2: view

No data available for Pathways by source and SIGNOR curated interactions for FCHSD2 Gene

Drugs & Compounds for FCHSD2 Gene

No Compound Related Data Available

Transcripts for FCHSD2 Gene

mRNA/cDNA for FCHSD2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FCHSD2

Alternative Splicing Database (ASD) splice patterns (SP) for FCHSD2 Gene

No ASD Table

Relevant External Links for FCHSD2 Gene

GeneLoc Exon Structure for
FCHSD2

Expression for FCHSD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FCHSD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FCHSD2 Gene

This gene is overexpressed in Lymph node (24.4), Blymphocyte (22.5), and Peripheral blood mononuclear cells (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FCHSD2 Gene



Protein tissue co-expression partners for FCHSD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FCHSD2

SOURCE GeneReport for Unigene cluster for FCHSD2 Gene:

Hs.744959

mRNA Expression by UniProt/SwissProt for FCHSD2 Gene:

O94868-FCSD2_HUMAN
Tissue specificity: Liver, brain, heart, placenta, skeletal muscle, pancreas, lung and kidney.

Evidence on tissue expression from TISSUES for FCHSD2 Gene

  • Nervous system(4.7)
  • Bone marrow(4.4)
  • Kidney(4.4)
  • Lung(4.3)
  • Blood(2.6)
  • Spleen(2.5)
  • Lymph node(2.4)
  • Muscle(2.4)
  • Skin(2.2)
  • Heart(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with FCHSD2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FCHSD2 Gene

Orthologs for FCHSD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FCHSD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FCHSD2 30 31
  • 99.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FCHSD2 30 31
  • 94.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FCHSD2 30 31
  • 94.28 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fchsd2 30 17 31
  • 91.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fchsd2 30
  • 91.26 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FCHSD2 31
  • 91 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FCHSD2 31
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FCHSD2 30 31
  • 80.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FCHSD2 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fchsd2 30
  • 74.41 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABZ01070631.1 31
  • 74 (a)
OneToMany
FCHSD2 (4 of 5) 31
  • 73 (a)
OneToMany
FCHSD2 (3 of 5) 31
  • 71 (a)
OneToMany
LOC100536596 30
  • 64.41 (n)
CU570791.5 31
  • 61 (a)
OneToMany
FCHSD2 (5 of 5) 31
  • 55 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta nwk 30 31
  • 49.24 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006774 30
  • 47.49 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10491 31
  • 38 (a)
OneToMany
Species where no ortholog for FCHSD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for FCHSD2 Gene

ENSEMBL:
Gene Tree for FCHSD2 (if available)
TreeFam:
Gene Tree for FCHSD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FCHSD2: view image

Paralogs for FCHSD2 Gene

Paralogs for FCHSD2 Gene

(4) SIMAP similar genes for FCHSD2 Gene using alignment to 7 proteins:

  • FCSD2_HUMAN
  • B8ZZW8_HUMAN
  • C9JM66_HUMAN
  • E7ENZ2_HUMAN
  • E9PG19_HUMAN
  • H0Y6M2_HUMAN
  • H0YG35_HUMAN
genes like me logo Genes that share paralogs with FCHSD2: view

Variants for FCHSD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FCHSD2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
710059 Benign: not provided 73,000,992(-) T/G SYNONYMOUS_VARIANT
786201 Benign: not provided 72,868,021(-) A/G SYNONYMOUS_VARIANT
787382 Benign: not provided 72,841,540(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FCHSD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for FCHSD2 Gene

Variant ID Type Subtype PubMed ID
esv2422418 CNV duplication 17116639
esv3626807 CNV loss 21293372
esv3626808 CNV loss 21293372
nsv1144576 CNV deletion 24896259
nsv386 CNV deletion 18451855
nsv555411 CNV loss 21841781
nsv951040 CNV duplication 24416366
nsv983042 CNV duplication 23825009

Variation tolerance for FCHSD2 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FCHSD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FCHSD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FCHSD2 Gene

Disorders for FCHSD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FCHSD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
erythematosquamous dermatosis
  • other erythematosquamous dermatosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FCHSD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FCHSD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FCHSD2 Gene

Publications for FCHSD2 Gene

  1. Identification and characterization of human FCHSD1 and FCHSD2 genes in silico. (PMID: 15067381) Katoh M … Katoh M (International journal of molecular medicine 2004) 2 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  3. A Flat BAR Protein Promotes Actin Polymerization at the Base of Clathrin-Coated Pits. (PMID: 29887380) Almeida-Souza L … McMahon HT (Cell 2018) 3 4
  4. Role for ERK1/2-dependent activation of FCHSD2 in cancer cell-selective regulation of clathrin-mediated endocytosis. (PMID: 30249660) Xiao GY … Schmid SL (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for FCHSD2 Gene

Sources for FCHSD2 Gene