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Aliases for FCHSD2 Gene

Aliases for FCHSD2 Gene

  • FCH And Double SH3 Domains 2 2 3 5
  • SH3 Multiple Domains Protein 3 3 4
  • SH3 Multiple Domains 3 2 3
  • SH3MD3 3 4
  • Carom 3 4
  • F-BAR And Double SH3 Domains Protein 2 3
  • FCH And Double SH3 Domains Protein 2 3
  • Nervous Wreck Homolog 3
  • KIAA0769 4
  • 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 Deafness, Autosomal Recessive 63. An important paralog of this gene is FCHSD1.

Gene Wiki entry for FCHSD2 Gene

Additional gene information for FCHSD2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FCHSD2 Gene

Genomics for FCHSD2 Gene

GeneHancer (GH) Regulatory Elements for FCHSD2 Gene

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
GH11I073138 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563 0.0 -14 7.4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MCM3 FCHSD2 ARPC3P4 FAM168A PAAF1 ENSG00000257038 ARAP1 RELT ATG16L2 STARD10 PDE2A
GH11I073213 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.7 -73.9 -73888 5.7 PKNOX1 CLOCK ARID4B SIN3A ZBTB7B IRF4 ZNF48 GLIS2 RUNX3 SP3 ENSG00000215841 P2RY2 FCHSD2
GH11I073268 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 -129.6 -129593 7.7 FOXA2 ARID4B NEUROD1 SIN3A SCRT2 FOS RCOR1 IKZF2 SMARCA5 SMARCC1 P2RY6 RELT FCHSD2 ENSG00000215841 P2RY2 ARHGEF17
GH11I073150 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.8 -13.3 -13285 10.3 HDGF PKNOX1 FOXA2 MLX ARID4B IRF4 ZNF48 ZNF143 ATF7 FOS FCHSD2 STARD10 LINC01537 FAM168A ENSG00000256568 LOC105369381
GH11I073173 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.8 -33.6 -33636 5.4 FOXA2 ARID4B DMAP1 ZNF2 IRF4 YY1 ARID2 ZNF143 RUNX3 RXRA ENSG00000256568 FCHSD2 RNU6-672P STARD10 ARAP1 LOC105369381
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FCHSD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FCHSD2 gene promoter:

Genomic Locations for FCHSD2 Gene

Genomic Locations for FCHSD2 Gene
chr11:72,836,743-73,142,454
(GRCh38/hg38)
Size:
305,712 bases
Orientation:
Minus strand
chr11:72,547,790-72,853,306
(GRCh37/hg19)

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:
    • Interacts with CASK and MAGI1. CASK inhibits interaction with MAGI1.
    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

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for FCHSD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FCHSD2: view

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

Function for FCHSD2 Gene

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
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

Clone Products

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

Localization for FCHSD2 Gene

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
nucleus 4
endosome 3
plasma membrane 2
cytoskeleton 2
cytosol 2

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:0031594 neuromuscular junction IBA --
GO:0055037 recycling endosome IBA --
genes like me logo Genes that share ontologies with FCHSD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FCHSD2 Gene

Pathways & Interactions for FCHSD2 Gene

SuperPathways for FCHSD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FCHSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007274 neuromuscular synaptic transmission IBA --
GO:0030833 regulation of actin filament polymerization IBA --
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

Unigene Clusters for FCHSD2 Gene

FCH and double SH3 domains 2:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for FCHSD2 Gene

GeneLoc Exon Structure for
FCHSD2
ECgene alternative splicing isoforms for
FCHSD2

Expression for FCHSD2 Gene

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

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, PaxDb, MaxQB, and MOPED for FCHSD2 Gene



Protein tissue co-expression partners for FCHSD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of FCHSD2 Gene:

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(4.6)
  • Bone marrow(4.3)
  • Lung(4.3)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with FCHSD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33 34
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia FCHSD2 34 33
  • 94.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FCHSD2 33 34
  • 94.28 (n)
mouse
(Mus musculus)
Mammalia Fchsd2 16 34 33
  • 91.8 (n)
rat
(Rattus norvegicus)
Mammalia Fchsd2 33
  • 91.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FCHSD2 34
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FCHSD2 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves FCHSD2 34 33
  • 80.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FCHSD2 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fchsd2 33
  • 74.41 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01070631.1 34
  • 74 (a)
OneToMany
FCHSD2 (4 of 5) 34
  • 73 (a)
OneToMany
FCHSD2 (3 of 5) 34
  • 71 (a)
OneToMany
LOC100536596 33
  • 64.41 (n)
CU570791.5 34
  • 61 (a)
OneToMany
FCHSD2 (5 of 5) 34
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nwk 34 33
  • 49.24 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006774 33
  • 47.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10491 34
  • 38 (a)
OneToMany
Species where no ortholog for FCHSD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for FCHSD2 Gene

Paralogs for FCHSD2 Gene

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

genes like me logo Genes that share paralogs with FCHSD2: view

Variants for FCHSD2 Gene

Sequence variations from dbSNP and Humsavar for FCHSD2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000016894 -- 72,928,986(-) C/T intron_variant
rs1000031260 -- 73,027,820(-) C/T intron_variant
rs1000037748 -- 72,946,192(-) T/C intron_variant
rs1000074853 -- 72,887,130(-) T/G intron_variant
rs1000076386 -- 73,076,564(-) A/G intron_variant

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

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

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
deafness, autosomal recessive 63
  • dfnb63
- 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
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 22 58
  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 58
  3. 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 44 58
  4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for FCHSD2 Gene

Sources for FCHSD2 Gene

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