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FHDC1 Gene

protein-coding   GIFtS: 45
GCID: GC04P153864

FH2 Domain Containing 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
FH2 Domain Containing 11 2
FH2 Domain-Containing Protein 12
KIAA17273

External Ids:    HGNC: 293631   Entrez Gene: 854622   Ensembl: ENSG000001374607   UniProtKB: Q9C0D63   

Export aliases for FHDC1 gene to outside databases

Previous GC identifers: GC04P154084 GC04P149590


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FHDC1 Gene:
FHDC1 (FH2 domain containing 1) is a protein-coding gene. An important paralog of this gene is DAAM1.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FHDC1 gene promoter:
         STAT5B   C/EBPbeta   Pax-6   CUTL1   RORalpha2   PPAR-gamma1   POU2F1   POU2F1a   c-Myb   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFHDC1 promoter sequence
   Search Chromatin IP Primers for FHDC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FHDC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q31.3   Ensembl cytogenetic band:  4q31.3   HGNC cytogenetic band: 4q31.3

FHDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FHDC1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P153864:  view genomic region     (about GC identifiers)

Start:
153,857,504 bp from pter      End:
153,900,848 bp from pter
Size:
43,345 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FHDC1_HUMAN, Q9C0D6 (See protein sequence)
Recommended Name: FH2 domain-containing protein 1  
Size: 1143 amino acids; 124762 Da

Explore the universe of human proteins at neXtProt for FHDC1: NX_Q9C0D6

Explore proteomics data for FHDC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FHDC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_203751.2  
    ENSEMBL proteins: 
     ENSP00000427567   ENSP00000260008  

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    antibodies-online kits for FHDC1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR015425 FH2_Formin

    Graphical View of Domain Structure for InterPro Entry Q9C0D6

    ProtoNet protein and cluster: Q9C0D6

    1 Blocks protein domain: IPB003104 Actin-binding FH2

    UniProtKB/Swiss-Prot: FHDC1_HUMAN, Q9C0D6
    Similarity: Contains 1 FH2 (formin homology 2) domain


    Find genes that share domains with FHDC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for FHDC1:
     Increased G1 DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FHDC1

    miRNA
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    miRTarBase miRNAs that target FHDC1:
    hsa-mir-1 (MIRT023718), hsa-mir-192-5p (MIRT026444), hsa-mir-124-3p (MIRT022470)

    Block miRNA regulation of human, mouse, rat FHDC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FHDC1 (see all 52):
    hsa-miR-136 hsa-miR-3194-5p hsa-miR-193a-3p hsa-miR-15a hsa-miR-503 hsa-miR-342-3p hsa-miR-650 hsa-miR-548m
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FHDC1
    Interactions:

        Search GeneGlobe Interaction Network for FHDC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FHDC1 (ENSP000002600084) via UniProtKB, MINT, STRING, and/or I2D (see all 84)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KYENSP000003975984STRING: ENSP00000397598
    PRC1ENSP000003777934STRING: ENSP00000377793
    TMF1ENSP000003815674STRING: ENSP00000381567
    ACTR2ENSP000003672204STRING: ENSP00000367220
    HIP1ENSP000003367474STRING: ENSP00000336747
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FHDC1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FHDC1 gene: 
    NM_033393.2  

    Unigene Cluster for FHDC1:

    FH2 domain containing 1
    Hs.132629  [show with all ESTs]
    Unigene Representative Sequence: NM_033393
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000511601 ENST00000260008(uc003inf.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FHDC1 (see all 52):
    hsa-miR-136 hsa-miR-3194-5p hsa-miR-193a-3p hsa-miR-15a hsa-miR-503 hsa-miR-342-3p hsa-miR-650 hsa-miR-548m
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FHDC1
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FHDC1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FHDC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FHDC1
      QuantiTect SYBR Green Assays in human, mouse, rat FHDC1
      QuantiFast Probe-based Assays in human, mouse, rat FHDC1

    Additional mRNA sequence: 

    AB051514.1 AK172734.1 

    2 DOTS entries:

    DT.95266294  DT.92051745 

    Selected AceView cDNA sequences (see all 85):

    AA862317 AI421235 AA884790 H79700 AI444952 BF001169 W80711 AL706590 
    AA342086 NM_033393 AI202042 AA908252 N58039 AI143847 AA774498 AA676541 
    AW069784 AI990994 BU680205 AI299109 AI278683 CA396747 AL597230 BU680689 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FHDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTTTAATA
    FHDC1 Expression
    About this image


    FHDC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Thyroid (Endocrine System)
     
     Spleen (Hematopoietic System)
    FHDC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FHDC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132629
        Custom PCR Arrays for FHDC1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FHDC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FHDC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FHDC1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fhdc11 , 5 FH2 domain containing 11, 5 76.09(n)1
    72.45(a)1
      3 (37.67 cM)5
    2294741  NM_001033301.41  NP_001028473.21 
     844440355 
    chicken
    (Gallus gallus)
    Aves FHDC11 FH2 domain containing 1 60.29(n)
    54.13(a)
      422484  XM_420449.4  XP_420449.2 
    lizard
    (Anolis carolinensis)
    Reptilia FHDC16
    FH2 domain containing 1
    50(a)
    1 ↔ 1
    5(131352434-131411240)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fhdc11 FH2 domain containing 1 55.26(n)
    49.31(a)
      734113  XM_002933493.2  XP_002933539.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570634002   -- 75(n)    57063400 
    fruit fly
    (Drosophila melanogaster)
    Insecta form36
    formin 3
    19(a)
    1 ↔ 1
    3L(7087918-7116397)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FHDC1 gene
    DAAM12  DIAPH12  FMNL32  FMNL12  DAAM22  INF22  FMNL22  GRID2IP2  
    FMN12  DIAPH22  FMN22  DIAPH32  

    Find genes that share paralogs with FHDC1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FHDC1 (see all 910)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1828805121,2
    --153862264(+) AAAGTA/GTCCAA 1 -- us2k10--------
    rs1867468491,2
    --153862268(+) TATCCA/GATTAA 1 -- us2k10--------
    rs1907496451,2
    --153862273(+) AATTAA/GTAGCT 1 -- us2k10--------
    rs797590491,2
    C,F--153862350(+) AATATT/CTGCTT 1 -- us2k11Minor allele frequency- C:0.07WA 118
    rs1826515281,2
    --153862749(+) GTAGCA/GGAACT 1 -- us2k10--------
    rs1868058131,2
    --153862775(+) GTCTAA/TTCCTA 1 -- us2k10--------
    rs1396560301,2
    C--153862807(+) AGGCAG/TCCCTG 1 -- us2k10--------
    rs1924324001,2
    --153862873(+) AGATTA/GTTTAC 1 -- us2k10--------
    rs1834551071,2
    --153862932(+) GCTTTA/GACAGT 1 -- us2k10--------
    rs623206041,2
    C,F--153862953(+) AAAGAA/TAATTA 1 -- us2k17Minor allele frequency- T:0.09WA NA CSA EA 366

    HapMap Linkage Disequilibrium report for FHDC1 (153857504 - 153900848 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FHDC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509019CNV Insertion20534489
    nsv461691CNV Loss19166990
    nsv830117CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FHDC1
    DNA2.0 Custom Variant and Variant Library Synthesis for FHDC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease from the University of Copenhagen DISEASES database for FHDC1:
    Chondrosarcoma

    Find genes that share disorders with FHDC1           About GenesLikeMe

    Genetic Association Database (GAD): FHDC1

    Export disorders for FHDC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FHDC1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FHDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. (PubMed id 17362836)1, 4 Schymick J.C....Traynor B.J. (Lancet Neurol 2007)
    2. Identification and characterization of human FHDC1, mouse Fhdc1 and zebrafish fhdc1 genes in silico. (PubMed id 15138637)1, 3 Katoh M. and Katoh M. (Int. J. Mol. Med. 2004)
    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. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    5. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (N. Engl. J. Med. 2012)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H.... Kim N.S. (Mamm. Genome 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1 Hillier L.D....Marra M. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 85462 HGNC: 29363 AceView: KIAA1727 Ensembl:ENSG00000137460 euGenes: HUgn85462
    ECgene: FHDC1 H-InvDB: FHDC1

    (According to HUGE)
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    HUGE: KIAA1727

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for FHDC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FHDC1 gene:
    Search GeneIP for patents involving FHDC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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