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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FHDC1 Gene

protein-coding   GIFtS: 43
GCID: GC04P153864

FH2 Domain Containing 1

  See related diseases
at  

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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FHDC1 Gene: 
FHDC1 (FH2 domain containing 1) is a protein-coding gene. Diseases associated with FHDC1 include lateral sclerosis, and amyotrophic lateral sclerosis. GO annotations related to this gene include actin binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FHDC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9C0D6

  • FHDC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FHDC1 Protein Expression
    REFSEQ proteins: NP_203751.2  
    ENSEMBL proteins: 
     ENSP00000427567   ENSP00000260008  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR015425 FH2_actin-bd
     IPR003104 Actin-bd_FH2/DRF_autoreg

    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


    FHDC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
         
    FHDC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FHDC1:
     Increased G1 DNA content 

    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FHDC1

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030036actin cytoskeleton organization ----

    FHDC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FHDC1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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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    8/52 QIAGEN miScript miRNA 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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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FHDC1

    Additional mRNA sequence: 

    AB051514.1 AK172734.1 

    2 DOTS entries:

    DT.95266294  DT.92051745 

    24/85 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FHDC1 expression in normal human tissues (normalized intensities)      FHDC1 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor ES-101
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem ES-209, Meso-prx/latp Progenitor
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Ectoderm (Gastrulation Derivatives)
             PureStem ES-210, Ecto-ntu Progenitor
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem ES-209, Meso-prx/latp Progenitor

    See FHDC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FHDC1

    SOURCE GeneReport for Unigene cluster: Hs.132629
        SABiosciences Custom PCR Arrays 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FHDC1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fhdc11 , 5 FH2 domain containing 11, 5 77.09(n)1
    73.83(a)1
      3 (37.67 cM)5
    2294741  NM_001205355.11  NP_001192284.11 
     844440355 
    chicken
    (Gallus gallus)
    Aves FHDC11 FH2 domain containing 1 60.32(n)
    55.1(a)
      422484  XM_420449.3  XP_420449.2 
    lizard
    (Anolis carolinensis)
    Reptilia FHDC16
    Uncharacterized protein
    49(a)
    1 ↔ 1
    5(131352434-131411240)
    zebrafish
    (Danio rerio)
    Actinopterygii 570634002   -- 75(n)    57063400 


    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)
    About This Section
    Paralogs for FHDC1 gene
    DAAM12  DIAPH12  FMNL32  FMNL12  DAAM22  INF22  FMNL22  GRID2IP2  
    FMN12  DIAPH22  FMN22  DIAPH32  

    FHDC1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/910 SNPs in FHDC1 are shown (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
    ----------
    VAR_0693944
    ----see VAR_0693942 L F mis40--------
    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--------

    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

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for FHDC1:    About MalaCards
    lateral sclerosis    amyotrophic lateral sclerosis    gastric cancer

    1 disease from the University of Copenhagen DISEASES database for FHDC1:
    Chondrosarcoma

    FHDC1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for FHDC1 gene integrated from 9 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. (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. (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. (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. (2012)
    5. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (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. (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. (2005)
    8. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1 Hillier L.D....Marra M. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 85462 HGNC: 29363 AceView: KIAA1727 Ensembl:ENSG00000137460 euGenes: HUgn85462
    ECgene: FHDC1 H-InvDB: FHDC1

    (According to HUGE)
    About This Section
    HUGE: KIAA1727

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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