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Aliases for FCHSD1 Gene

Aliases for FCHSD1 Gene

  • FCH And Double SH3 Domains 1 2 3 5
  • F-BAR And Double SH3 Domains Protein 1 3
  • FCH And Double SH3 Domains Protein 1 3
  • Nervous Wreck Homolog 2 3
  • NWK2 3

External Ids for FCHSD1 Gene

Previous GeneCards Identifiers for FCHSD1 Gene

  • GC05M141048
  • GC05M140999
  • GC05M136163
  • GC05M141018

Summaries for FCHSD1 Gene

GeneCards Summary for FCHSD1 Gene

FCHSD1 (FCH And Double SH3 Domains 1) is a Protein Coding gene. An important paralog of this gene is FCHSD2.

Gene Wiki entry for FCHSD1 Gene

Additional gene information for FCHSD1 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 FCHSD1 Gene

Genomics for FCHSD1 Gene

GeneHancer (GH) Regulatory Elements for FCHSD1 Gene

Promoters and enhancers for FCHSD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J141650 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.0 7 1.6 HDAC1 ARID4B SIN3A ZNF335 GLIS2 ZNF213 EGR1 SCRT2 CREM EGR2 FCHSD1 ENSG00000271871 PCDHB8 RELL2
GH05J142314 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 22.5 -670.3 -670293 13.8 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SPRY4 LOC102723915 HDAC3 FCHSD1 ENSG00000271871 DELE1 RPL7P21 PCDHGA11 LINC01844 ENSG00000261757
GH05J141319 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 26.5 +330.8 330778 1.9 PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF213 TAF7 ANKHD1 WDR55 LOC102723915 FCHSD1 HDAC3 TMCO6 PCDHB15 VTRNA1-1 MRPL11P2
GH05J140725 Promoter/Enhancer 1.6 Ensembl ENCODE 26.5 +925.4 925446 1.1 PKNOX1 ARNT ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B ZNF766 ZNF213 VTRNA1-3 GC05P142300 ANKHD1 LOC102723915 WDR55 HDAC3 HARS2 TMCO6 FCHSD1 PCDHA4
GH05J141968 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.5 -318.1 -318139 3 CLOCK DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 NFYC GLIS1 RNF14 PCDH12 LOC102723915 HDAC3 PCDHB18P PCDHGA6 PCDHGA7 DELE1 PCDHGA5 ENSG00000271871
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FCHSD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FCHSD1 gene promoter:
  • AP-1
  • AP-2alphaA
  • AP-2alpha isoform 4
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alpha

Genomic Locations for FCHSD1 Gene

Genomic Locations for FCHSD1 Gene
12,127 bases
Minus strand
12,118 bases
Minus strand

Genomic View for FCHSD1 Gene

Genes around FCHSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FCHSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FCHSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FCHSD1 Gene

Proteins for FCHSD1 Gene

  • Protein details for FCHSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    F-BAR and double SH3 domains protein 1
    Protein Accession:
    Secondary Accessions:
    • Q6UX75
    • Q86Y77
    • Q9NXX8

    Protein attributes for FCHSD1 Gene

    690 amino acids
    Molecular mass:
    76942 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA92232.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FCHSD1 Gene


neXtProt entry for FCHSD1 Gene

Post-translational modifications for FCHSD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FCHSD1 Gene

Domains & Families for FCHSD1 Gene

Gene Families for FCHSD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FCHSD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FCHSD1: view

No data available for UniProtKB/Swiss-Prot for FCHSD1 Gene

Function for FCHSD1 Gene

Phenotypes From GWAS Catalog for FCHSD1 Gene

genes like me logo Genes that share phenotypes with FCHSD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for FCHSD1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FCHSD1 Gene

Localization for FCHSD1 Gene

Subcellular locations from

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 FCHSD1 gene
Compartment Confidence
nucleus 3
cytosol 3
endosome 3
mitochondrion 2
peroxisome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for FCHSD1 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 FCHSD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FCHSD1 Gene

Pathways & Interactions for FCHSD1 Gene

SuperPathways for FCHSD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FCHSD1 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 FCHSD1: view

No data available for Pathways by source and SIGNOR curated interactions for FCHSD1 Gene

Drugs & Compounds for FCHSD1 Gene

No Compound Related Data Available

Transcripts for FCHSD1 Gene

mRNA/cDNA for FCHSD1 Gene

Unigene Clusters for FCHSD1 Gene

FCH and double SH3 domains 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FCHSD1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^
SP1: - - -
SP2: - - - -
SP3: -
SP4: -

ExUns: 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b · 21c
SP5: - - -
SP6: - - -
SP10: -

Relevant External Links for FCHSD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FCHSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FCHSD1 Gene

mRNA differential expression in normal tissues according to GTEx for FCHSD1 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for FCHSD1 Gene

This gene is overexpressed in Heart (45.4) and Lung (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FCHSD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FCHSD1 Gene:


SOURCE GeneReport for Unigene cluster for FCHSD1 Gene:


Evidence on tissue expression from TISSUES for FCHSD1 Gene

  • Spleen(4.3)
  • Blood(4.2)
  • Liver(4.1)
  • Kidney(3.2)
genes like me logo Genes that share expression patterns with FCHSD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FCHSD1 Gene

Orthologs for FCHSD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FCHSD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FCHSD1 34 33
  • 98.29 (n)
(Bos Taurus)
Mammalia FCHSD1 33
  • 90.72 (n)
(Canis familiaris)
Mammalia FCHSD1 34 33
  • 89.23 (n)
(Mus musculus)
Mammalia Fchsd1 16 34 33
  • 88.13 (n)
(Rattus norvegicus)
Mammalia Fchsd1 33
  • 87.63 (n)
(Monodelphis domestica)
Mammalia FCHSD1 34
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 67 (a)
-- 34
  • 54 (a)
(Gallus gallus)
Aves FCHSD1 34 33
  • 61.44 (n)
(Anolis carolinensis)
Reptilia FCHSD1 34
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fchsd1 33
  • 58.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta nwk 34
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10491 34
  • 33 (a)
Species where no ortholog for FCHSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • zebrafish (Danio rerio)

Evolution for FCHSD1 Gene

Gene Tree for FCHSD1 (if available)
Gene Tree for FCHSD1 (if available)
Evolutionary constrained regions (ECRs) for FCHSD1: view image

Paralogs for FCHSD1 Gene

Paralogs for FCHSD1 Gene

(1) SIMAP similar genes for FCHSD1 Gene using alignment to 4 proteins:

  • E5RK49_HUMAN
genes like me logo Genes that share paralogs with FCHSD1: view

Variants for FCHSD1 Gene

Sequence variations from dbSNP and Humsavar for FCHSD1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000317841 -- 141,653,364(-) C/T upstream_transcript_variant
rs1000830589 -- 141,642,670(-) T/C genic_downstream_transcript_variant, intron_variant
rs1001048209 -- 141,644,790(-) A/C genic_downstream_transcript_variant, intron_variant
rs1001425408 -- 141,645,093(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1001725897 -- 141,640,771(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FCHSD1 Gene

Variant ID Type Subtype PubMed ID
nsv1154058 CNV deletion 26484159
nsv5034 CNV insertion 18451855

Variation tolerance for FCHSD1 Gene

Residual Variation Intolerance Score: 98.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.67; 72.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FCHSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FCHSD1 Gene

Disorders for FCHSD1 Gene

Additional Disease Information for FCHSD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FCHSD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FCHSD1 Gene

Publications for FCHSD1 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. 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
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 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 FCHSD1 Gene

Sources for FCHSD1 Gene

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