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

FERD3L Gene

protein-coding   GIFtS: 48
GCID: GC07M019150

Fer3-Like (Drosophila)

  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
Fer3-Like (Drosophila)1 2     NTWIST2 3
Basic Helix-Loop-Helix Protein N-Twist2 3     bHLHa312 3
Class A Basic Helix-Loop-Helix Protein 312 3     N-TWIST2
Nephew Of Atonal 32 3     Fer3-Like Protein2
Neuronal Twist2 3     BHLHA313
NATO32 3     

External Ids:    HGNC: 166601   Entrez Gene: 2228942   Ensembl: ENSG000001466187   UniProtKB: Q96RJ63   

Export aliases for FERD3L gene to outside databases

Previous GC identifers: GC07M018828 GC07M018928 GC07M018957


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

GeneCards Summary for FERD3L Gene: 
FERD3L (Fer3-like (Drosophila)) is a protein-coding gene. Diseases associated with FERD3L include saethre-chotzen syndrome, and learning disability. GO annotations related to this gene include protein dimerization activity and DNA binding. An important paralog of this gene is PTF1A.

UniProtKB/Swiss-Prot: FER3L_HUMAN, Q96RJ6
Function: Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding
requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E
proteins (By similarity)




(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_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FERD3L gene promoter:
         AML1a   p53   ATF-2   HSF1 (long)   POU3F2   E47   PPAR-alpha   HSF1short   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFERD3L promoter sequence
   Search SABiosciences Chromatin IP Primers for FERD3L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FERD3L


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

Entrez Gene cytogenetic band: 7p21.1   Ensembl cytogenetic band:  7p21.1   HGNC cytogenetic band: 7p21.3

FERD3L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FERD3L gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M019150:  view genomic region     (about GC identifiers)

Start:
19,184,405 bp from pter      End:
19,185,044 bp from pter
Size:
640 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 19,235,856-19,236,495     

(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: FER3L_HUMAN, Q96RJ6 (See protein sequence)
Recommended Name: Fer3-like protein  
Size: 166 amino acids; 19017 Da
Subunit: Heterodimer with TCF3/E12. Interacts with the bHLH domain of TCF3/E12 (By similarity)
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q495K0

Explore the universe of human proteins at neXtProt for FERD3L: NX_Q96RJ6

Explore proteomics data for FERD3L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96RJ6

  • FERD3L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FERD3L Protein Expression
    REFSEQ proteins: NP_690862.1  
    ENSEMBL proteins: 
     ENSP00000275461  

    Human Recombinant Protein Products for FERD3L: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for FERD3L 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--

    FERD3L for ontologies           About GeneDecksing



    FERD3L Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q96RJ6

    ProtoNet protein and cluster: Q96RJ6

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: FER3L_HUMAN, Q96RJ6
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    FERD3L 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FER3L_HUMAN, Q96RJ6
    Function: Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding
    requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E
    proteins (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0046983protein dimerization activity IEA--
         
    FERD3L for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ferd3l):
     cellular  embryogenesis  nervous system 

    FERD3L for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FERD3L 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FERD3L 
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    miRNA
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    Inhib. RNA
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERD3L


    (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 FERD3L

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FERD3L (Q96RJ63 ENSP000002754614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TCF3P159233, ENSP000002629654I2D: score=1 STRING: ENSP00000262965
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0045892negative regulation of transcription, DNA-dependent ISS--

    FERD3L 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 FERD3L (FER3L)

    Search CenterWatch for drugs/clinical trials and news about FERD3L / FER3L

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FERD3L gene: 
    NM_152898.2  

    Unigene Cluster for FERD3L:

    Fer3-like (Drosophila)
    Hs.592168
    Unigene Representative Sequence: AF517122
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000275461(uc003suo.1)
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FERD3L
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FERD3L
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                         Customized lentivirus expression plasmids for stable overexpression of FERD3L 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FERD3L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FERD3L

    Additional mRNA sequence: 

    AF517122.1 BC069147.1 BC101135.1 BC101136.1 BC101137.1 BC101138.2 

    1 DOTS entry:

    DT.100000413 

    5 AceView cDNA sequences:

    BC069147 BI834521 BC043576 NM_152898 AF517122 

    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

    FERD3L expression in normal human tissues (normalized intensities)      FERD3L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCGAGCTCT
    FERD3L Expression
    About this image


    FERD3L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Meso-diencephalic Dopaminergic Precursor Cells Mesencephalic Ventricular Zone
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Meso-diencephalic Dopaminergic Precursor Cells Mesencephalic Ventricular Zone

    See FERD3L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FERD3L

    SOURCE GeneReport for Unigene cluster: Hs.592168
        SABiosciences Custom PCR Arrays for FERD3L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERD3L

    (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 animals.

    Orthologs for FERD3L gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ferd3l1 , 5 Fer3-like (Drosophila)1, 5 78.79(n)1
    79.39(a)1
      12 (14.79 cM)5
    1147121  NM_033522.21  NP_277057.11 
     339284255 
    chicken
    (Gallus gallus)
    Aves FERD3L1 Fer3-like (Drosophila) 71.27(n)
    69.08(a)
      428429  XM_425989.1  XP_425989.1 
    lizard
    (Anolis carolinensis)
    Reptilia FERD3L6
    Uncharacterized protein
    81(a)
    1 ↔ 1
    6(28678177-28678431)
    zebrafish
    (Danio rerio)
    Actinopterygii ferd3l6
    Fer3-like (Drosophila)
    75(a)
    1 ↔ 1
    19(2463510-2463753)
    fruit fly
    (Drosophila melanogaster)
    Insecta Fer36
    48 related 3
    33(a)
    1 ↔ 1
    3R(7519132-7519999)


    ENSEMBL Gene Tree for FERD3L (if available)
    TreeFam Gene Tree for FERD3L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FERD3L gene
    PTF1A2  
    6 SIMAP similar genes for FERD3L using alignment to 1 protein entry:     FER3L_HUMAN:
    PTF1A    ATOH1    NEUROD4    NHLH1    NEUROD6    NEUROD2

    FERD3L 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

    10/84 SNPs in FERD3L are shown (see all 84)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0424394
    A colorectal cancer sample4--see VAR_0424392 G R mis40--------
    rs1126610151,2
    F--19183913(+) CCTCAG/CTTCCT 1 -- ds50012Minor allele frequency- C:0.50CSA 4
    rs102681601,2
    C,F,A,H--19184059(+) CCCTTC/GAGGCT 1 -- ds500114Minor allele frequency- N:0.01EA NA NS WA CSA 989
    rs1121916231,2
    C--19184103(+) AAAAA-/ATGTAA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs126724441,2
    H--19184180(+) CACTTC/GCCACC 1 -- ds50010--------
    rs1172117241,2
    C,F--19184257(+) TTCCCC/GGCTCG 1 -- ds50011Minor allele frequency- G:0.23EA 120
    rs1472776631,2
    --19184320(+) AGCCAC/TTCTGC 1 -- ds50010--------
    rs1112615191,2
    C--19184427(+) GTGCCC/AGGTCC 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs2015515771,2
    --19184615(+) TCCGCA/GGCTGG 2 P L mis10--------
    rs1418723441,2
    C,F--19184631(+) GGCCTC/TGTTGA 2 K E mis12Minor allele frequency- T:0.00NA EU 5873

    HapMap Linkage Disequilibrium report for FERD3L (19184405 - 19185044 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FERD3L:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv482940CNV Gain15286789

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing FERD3L
    DNA2.0 Custom Variant and Variant Library Synthesis for FERD3L

    (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
    4 diseases for FERD3L:    About MalaCards
    saethre-chotzen syndrome    learning disability    brachydactyly    neuronitis

    1 disease from the University of Copenhagen DISEASES database for FERD3L:
    Acrocephalosyndactylia

    FERD3L for disorders           About GeneDecksing

    Genetic Association Database (GAD): FERD3L

    Export disorders for FERD3L 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 FERD3L gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with FERD3L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. N-twist, an evolutionarily conserved bHLH protein expressed in the developing CNS, functions as a transcriptional inhibitor. (PubMed id 12217327)1, 2, 3 Verzi M.P.... Black B.L. (2002)
    2. Nato3 is an evolutionarily conserved bHLH transcription factor expressed in the CNS of Drosophila and mouse. (PubMed id 11472856)1, 2, 3 Segev E.... Ben-Arie N. (2001)
    3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    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. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)4 Lango Allen H....Hirschhorn J.N. (2010)
    6. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)
    7. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)4 Seshadri S....Wolf P.A. (2007)
    8. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    9. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)
    10. Genome-wide association of sleep and circadian phenotypes. (PubMed id 17903308)4 Gottlieb D.J....Wilk J.B. (2007)

    (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: 222894 HGNC: 16660 AceView: FERD3L Ensembl:ENSG00000146618 euGenes: HUgn222894
    ECgene: FERD3L H-InvDB: FERD3L

    (According to HUGE)
    About This Section
      --

    (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 FERD3L 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 FERD3L gene:
    Search GeneIP for patents involving FERD3L

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



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