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FRMPD3 Gene

protein-coding   GIFtS: 39
GCID: GC0XP106765          (predicted)

FERM And PDZ Domain Containing 3

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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
FERM And PDZ Domain Containing 31 2
RP5-1070B1.12
FERM And PDZ Domain-Containing Protein 32
KIAA18173
EC 3.6.18
EC 6.1.18

External Ids:    HGNC: 293821   Entrez Gene: 844432   Ensembl: ENSG000001472347   UniProtKB: Q5JV733   

Export aliases for FRMPD3 gene to outside databases

Previous GC identifer: GC0XP106652


(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 FRMPD3 Gene:
FRMPD3 (FERM and PDZ domain containing 3) is a protein-coding gene. An important paralog of this gene is FRMPD1.


(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_000023.10  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the FRMPD3 gene promoter:
         HOXA9B   HOXA9   USF1   NF-1   Sp1   NF-kappaB   Meis-1b   USF-1   RSRFC4   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FRMPD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FRMPD3


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

Entrez Gene cytogenetic band: Xq22   Ensembl cytogenetic band:  Xq22.3   HGNC cytogenetic band: Xq22

FRMPD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRMPD3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP106765:  view genomic region     (about GC identifiers)

Start:
106,765,680 bp from pter      End:
106,848,481 bp from pter
Size:
82,802 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: FRPD3_HUMAN, Q5JV73 (See protein sequence)
Recommended Name: FERM and PDZ domain-containing protein 3  
Size: 1810 amino acids; 199209 Da
Sequence caution: Sequence=CAI42175.1; Type=Erroneous gene model prediction; Sequence=CAI42749.1; Type=Erroneous
gene model prediction;
Secondary accessions: Q96JK8

Explore the universe of human proteins at neXtProt for FRMPD3: NX_Q5JV73

Explore proteomics data for FRMPD3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for FRMPD3 (Q5JV73)
     YDEIPVT  LFSATFP 


    See FRMPD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115804.1  
    ENSEMBL proteins: 
     ENSP00000398668   ENSP00000276185  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR019748 FERM_central
     IPR001478 PDZ
     IPR019749 Band_41_domain
     IPR000299 FERM_domain

    Graphical View of Domain Structure for InterPro Entry Q5JV73

    ProtoNet protein and cluster: Q5JV73

    UniProtKB/Swiss-Prot: FRPD3_HUMAN, Q5JV73
    Similarity: Contains 1 FERM domain
    Similarity: Contains 1 PDZ (DHR) domain


    Find genes that share domains with FRMPD3           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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         Enzyme Numbers (IUBMB): EC 3.6.12 EC 6.1.12

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with FRMPD3           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FRMPD3

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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
    cytoskeleton2
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IEA--

    Find genes that share ontologies with FRMPD3           About GenesLikeMe


    (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 FRMPD3
    Interactions:

        Search GeneGlobe Interaction Network for FRMPD3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for FRMPD3 (ENSP000002761854) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAENSP000004001754STRING: ENSP00000400175
    RHOCENSP000002857354STRING: ENSP00000285735
    HRASENSP000003098454STRING: ENSP00000309845
    KRASENSP000002560784STRING: ENSP00000256078
    NRASENSP000003585484STRING: ENSP00000358548
    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 FRMPD3 (FRPD3)



    (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 FRMPD3 gene: 
    NM_032428.1  

    Unigene Cluster for FRMPD3:

    FERM and PDZ domain containing 3
    Hs.496546  [show with all ESTs]
    Unigene Representative Sequence: AB058720
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439554 ENST00000477796 ENST00000276185
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    Additional mRNA sequence: AB058720.1 

    2 DOTS entries:

    DT.95217195  DT.75140171 

    1 AceView cDNA sequence:

    BU662441 

    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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    FRMPD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FRMPD3 Expression
    About this image

    FRMPD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FRMPD3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.496546
        Custom PCR Arrays for FRMPD3
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    In Situ
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    (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 FRMPD3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Frmpd35
    LOC1010559481
    FERM and PDZ domain containing 35
    FERM and PDZ domain-containing protein 3-like1
    88.29(n)1
    91.28(a)1
      X (61.35 cM)5
    1010559481  XM_006528656.11  XP_006528719.11 
     1403674945 
    chicken
    (Gallus gallus)
    Aves FRMPD31 FERM and PDZ domain containing 3 70.07(n)
    71(a)
      428699  XM_004940611.1  XP_004940668.1 
    lizard
    (Anolis carolinensis)
    Reptilia FRMPD36
    FERM and PDZ domain containing 3
    62(a)
    1 ↔ 1
    GL343686.1(36690-57233)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia frmpd31 FERM and PDZ domain containing 3 62.54(n)
    64.86(a)
      100489318  XM_002940408.2  XP_002940454.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7983021 uncharacterized LOC798302 60.13(n)
    58.86(a)
      798302  XM_005157179.1  XP_005157236.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427886
    --
    19(a)
    1 → many
    3R(10921679-10957646)
    worm
    (Caenorhabditis elegans)
    Secernentea frm-86
    Protein FRM-8, isoform c (frm-8) mRNA, complete cd...
    22(a)
    1 → many
    III(3200800-3219150) WBGene00001494


    ENSEMBL Gene Tree for FRMPD3 (if available)
    TreeFam Gene Tree for FRMPD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FRMPD3 gene
    FRMPD12  FRMPD42  

    Find genes that share paralogs with FRMPD3           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 FRMPD3 (see all 1080)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1903397451,2
    --106735442(+) AAAAAA/CACACA 1 -- us2k10--------
    rs1996004211,2
    C--106735442(+) AAAAA-/CACACA 1 -- us2k10--------
    rs3776033161,2
    C--106735443(+) AAAAA-/A/CCACAC 1 -- us2k10--------
    rs1832411671,2
    --106735593(+) TGCCTC/TAAAAA 1 -- us2k10--------
    rs1488347721,2
    --106735609(+) CAACAA/CCAACA 1 -- us2k10--------
    rs1861425831,2
    --106735659(+) AATTGA/TGGAAG 1 -- us2k10--------
    rs1434440001,2
    --106735773(+) TCTCAA/GTTTCC 1 -- us2k10--------
    rs1919173451,2
    --106735865(+) GGAGCA/GTAGTA 1 -- us2k10--------
    rs59628431,2
    C,F,H--106735935(+) TTTCCT/CCACTT 1 -- us2k14Minor allele frequency- C:0.02NS EA 418
    rs1420132731,2
    C--106736323(+) GGGCAC/TGACCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FRMPD3 (106765680 - 106848481 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FRMPD3: --
    Locus Specific Mutation Databases (LSDB): FRMPD3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FRMPD3
    DNA2.0 Custom Variant and Variant Library Synthesis for FRMPD3

    (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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      --

    (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 FRMPD3 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FRMPD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)

    (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: 84443 HGNC: 29382 AceView: KIAA1817 Ensembl:ENSG00000147234 euGenes: HUgn84443
    ECgene: FRMPD3 H-InvDB: FRMPD3

    (According to HUGE)
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    HUGE: KIAA1817

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FRMPD3 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 FRMPD3 gene:
    Search GeneIP for patents involving FRMPD3

    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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