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Aliases for FHDC1 Gene

Aliases for FHDC1 Gene

  • FH2 Domain Containing 1 2 3 5
  • KIAA1727 4

External Ids for FHDC1 Gene

Previous GeneCards Identifiers for FHDC1 Gene

  • GC04P154084
  • GC04P153864
  • GC04P149590
  • GC04P152936

Summaries for FHDC1 Gene

GeneCards Summary for FHDC1 Gene

FHDC1 (FH2 Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is INF2.

Additional gene information for FHDC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FHDC1 Gene

Genomics for FHDC1 Gene

GeneHancer (GH) Regulatory Elements for FHDC1 Gene

Promoters and enhancers for FHDC1 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
GH04I152942 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 550.3 +32.5 32491 2.5 NR2F2 EGR2 GC04P152943 GC04P152944 GC04P152945 GC04P152946 FHDC1 ARFIP1 PIR52121
GH04I152953 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 22.4 +45.1 45133 5.6 MEIS2 FOXA2 MAX RAD21 RARA TEAD3 CTBP1 FOXK2 HNF4G NR2F6 FHDC1 RNF175 ARFIP1 TRIM2 PIR52121 GC04P152943 GC04P152944 GC04P152945 GC04P152946
GH04I153079 Enhancer 0.7 FANTOM5 19.2 +168.6 168562 0.4 PKNOX1 TEAD4 NR4A1 TAL1 CEBPB CBFA2T3 CEBPG ZNF398 ZIC2 TCF12 FHDC1 TMEM131L GC04P153071 GC04P153070 ENSG00000249022 TRIM2
GH04I153142 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 +232.4 232375 2.8 ARNT ZFP64 FEZF1 TCF12 ZNF213 ZNF143 ATF7 REST TSHZ1 ZNF623 MND1 FHDC1 RNF175 TRIM2 GC04P153070 GC04P153071
GH04I152972 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +61.8 61821 2.4 ZFHX2 FOS EGR2 FHDC1 PIR52121 GC04P152943 GC04P152944 GC04P152945 GC04P152946 ENSG00000249022
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FHDC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FHDC1 gene promoter:

Genomic Locations for FHDC1 Gene

Genomic Locations for FHDC1 Gene
chr4:152,911,570-152,979,696
(GRCh38/hg38)
Size:
68,127 bases
Orientation:
Plus strand
chr4:153,857,504-153,900,848
(GRCh37/hg19)

Genomic View for FHDC1 Gene

Genes around FHDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FHDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FHDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FHDC1 Gene

Proteins for FHDC1 Gene

  • Protein details for FHDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0D6-FHDC1_HUMAN
    Recommended name:
    FH2 domain-containing protein 1
    Protein Accession:
    Q9C0D6

    Protein attributes for FHDC1 Gene

    Size:
    1143 amino acids
    Molecular mass:
    124762 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FHDC1 Gene

Post-translational modifications for FHDC1 Gene

No Post-translational modifications

Other Protein References for FHDC1 Gene

No data available for DME Specific Peptides for FHDC1 Gene

Domains & Families for FHDC1 Gene

Gene Families for FHDC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FHDC1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FHDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FHDC1: view

No data available for UniProtKB/Swiss-Prot for FHDC1 Gene

Function for FHDC1 Gene

Phenotypes From GWAS Catalog for FHDC1 Gene

Phenotypes for FHDC1 Gene

genes like me logo Genes that share phenotypes with FHDC1: view

Inhibitory RNA 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 FHDC1 Gene

Localization for FHDC1 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 FHDC1 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FHDC1 Gene

Pathways & Interactions for FHDC1 Gene

SuperPathways for FHDC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FHDC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FHDC1 Gene

Drugs & Compounds for FHDC1 Gene

No Compound Related Data Available

Transcripts for FHDC1 Gene

mRNA/cDNA for FHDC1 Gene

Unigene Clusters for FHDC1 Gene

FH2 domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FHDC1 Gene

No ASD Table

Relevant External Links for FHDC1 Gene

GeneLoc Exon Structure for
FHDC1
ECgene alternative splicing isoforms for
FHDC1

Expression for FHDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FHDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FHDC1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x4.7), Skin - Not Sun Exposed (Suprapubic) (x4.4), and Thyroid (x4.0).

Protein differential expression in normal tissues from HIPED for FHDC1 Gene

This gene is overexpressed in Cervix (31.7), Breast (23.7), and Peripheral blood mononuclear cells (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FHDC1 Gene



Protein tissue co-expression partners for FHDC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FHDC1 Gene:

FHDC1

SOURCE GeneReport for Unigene cluster for FHDC1 Gene:

Hs.132629
genes like me logo Genes that share expression patterns with FHDC1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FHDC1 Gene

Orthologs for FHDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FHDC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FHDC1 34 33
  • 99.07 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FHDC1 34 33
  • 80.97 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fhdc1 33
  • 76.69 (n)
mouse
(Mus musculus)
Mammalia Fhdc1 33 16 34
  • 76.09 (n)
cow
(Bos Taurus)
Mammalia FHDC1 33 34
  • 75.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FHDC1 34
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FHDC1 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves FHDC1 34 33
  • 60.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FHDC1 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fhdc1 33
  • 55.26 (n)
zebrafish
(Danio rerio)
Actinopterygii fhdc1 33 34
  • 50.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta form3 34
  • 19 (a)
OneToOne
Species where no ortholog for FHDC1 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 FHDC1 Gene

ENSEMBL:
Gene Tree for FHDC1 (if available)
TreeFam:
Gene Tree for FHDC1 (if available)

Paralogs for FHDC1 Gene

Paralogs for FHDC1 Gene

genes like me logo Genes that share paralogs with FHDC1: view

Variants for FHDC1 Gene

Sequence variations from dbSNP and Humsavar for FHDC1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000072036 -- 152,942,328(+) A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000076524 -- 152,948,959(+) C/T intron_variant
rs1000077679 -- 152,936,523(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000083430 -- 152,914,330(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000119070 -- 152,956,485(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FHDC1 Gene

Variant ID Type Subtype PubMed ID
nsv461691 CNV loss 19166990
nsv509019 CNV insertion 20534489
nsv595745 CNV loss 21841781
nsv830117 CNV gain 17160897

Variation tolerance for FHDC1 Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.31; 97.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FHDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FHDC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FHDC1 Gene

Disorders for FHDC1 Gene

Additional Disease Information for FHDC1

No disorders were found for FHDC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FHDC1 Gene

Publications for FHDC1 Gene

  1. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. (PMID: 17362836) Schymick JC … Traynor BJ (The Lancet. Neurology 2007) 3 44 58
  2. Identification and characterization of human FHDC1, mouse Fhdc1 and zebrafish fhdc1 genes in silico. (PMID: 15138637) Katoh M … Katoh M (International journal of molecular medicine 2004) 2 3 58
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58
  5. Diagnostic exome sequencing in persons with severe intellectual disability. (PMID: 23033978) de Ligt J … Vissers LE (The New England journal of medicine 2012) 4 58

Products for FHDC1 Gene

Sources for FHDC1 Gene

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