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

FRMD5 Gene

protein-coding   GIFtS: 46
GCID: GC15M044162

FERM Domain Containing 5

  Search for FRMD5
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
FERM Domain Containing 51 2
FERM Domain-Containing Protein 52

External Ids:    HGNC: 282141   Entrez Gene: 849782   Ensembl: ENSG000001718777   UniProtKB: Q7Z6J63   

Export aliases for FRMD5 gene to outside databases

Previous GC identifers: GC15M041953 GC15M020989


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

GeneCards Summary for FRMD5 Gene: 
FRMD5 (FERM domain containing 5) is a protein-coding gene. GO annotations related to this gene include cytoskeletal protein binding and molecular_function. An important paralog of this gene is EPB41L5.


(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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FRMD5 gene promoter:
         HNF-1A   E47   GATA-1   IRF-2   POU2F1   HSF2   POU2F1a   HNF-1   Cart-1   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRMD5 promoter sequence
   Search SABiosciences Chromatin IP Primers for FRMD5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRMD5


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

Entrez Gene cytogenetic band: 15q15.3   Ensembl cytogenetic band:  15q15.3   HGNC cytogenetic band: 15q15.3

FRMD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRMD5 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M044162:  view genomic region     (about GC identifiers)

Start:
44,162,962 bp from pter      End:
44,487,450 bp from pter
Size:
324,489 bases      Orientation:
minus 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: FRMD5_HUMAN, Q7Z6J6 (See protein sequence)
Recommended Name: FERM domain-containing protein 5  
Size: 570 amino acids; 65065 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: Q8NBG4
Alternative splicing: 2 isoforms:  Q7Z6J6-1   Q7Z6J6-2   

Explore the universe of human proteins at neXtProt for FRMD5: NX_Q7Z6J6

Explore proteomics data for FRMD5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z6J6

  • FRMD5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FRMD5 Protein Expression
    REFSEQ proteins: NP_116281.2  
    ENSEMBL proteins: 
     ENSP00000403067   ENSP00000384142   ENSP00000399684   ENSP00000452968   ENSP00000404496  
     ENSP00000401635   ENSP00000454031   ENSP00000392786  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FRMD5 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0016021integral to membrane IEA--
    GO:0019898extrinsic to membrane IEA--

    FRMD5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR019748 FERM_central
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin_like
     IPR019747 FERM_CS
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q7Z6J6

    ProtoNet protein and cluster: Q7Z6J6

    1 Blocks protein domain: IPB000299 Band 4.1 domain

    UniProtKB/Swiss-Prot: FRMD5_HUMAN, Q7Z6J6
    Similarity: Contains 1 FERM domain


    FRMD5 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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI--
    GO:0008092cytoskeletal protein binding IEA--
         
    FRMD5 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Frmd5 (no phenotypes)

    FRMD5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FRMD5 
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    SwitchGear 3'UTR luciferase reporter plasmidFRMD5 3' UTR sequence
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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 FRMD5

    5 Interacting proteins for FRMD5 (Q7Z6J62, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NELFCDQ8IXH72, 3MINT-64860 I2D: score=4 
    CTNND1O607162MINT-8385411 MINT-8385398 MINT-8385383
    CDH1P128302MINT-8385411
    CTNNB1P352222MINT-8385358
    JUPP149232MINT-8385372
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    FRMD5 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 FRMD5

    Search CenterWatch for drugs/clinical trials and news about FRMD5

    (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 FRMD5 gene: 
    NM_032892.3  

    Unigene Cluster for FRMD5:

    FERM domain containing 5
    Hs.578544  [show with all ESTs]
    Unigene Representative Sequence: BC007796
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417257(uc001ztl.3) ENST00000402883 ENST00000449926(uc001ztj.1)
    ENST00000484674(uc001ztk.1) ENST00000458630(uc010uef.2) ENST00000421674(uc001ztm.3 uc001ztn.3)
    ENST00000558108 ENST00000451277 ENST00000473965 ENST00000479319
    miRNA
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    hsa-miR-188-5p hsa-miR-218-2* hsa-miR-218-1* hsa-miR-765 hsa-miR-551b* hsa-miR-548aa hsa-miR-211 hsa-miR-4314
    SwitchGear 3'UTR luciferase reporter plasmidFRMD5 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK090572.1 AK123018.1 AK290013.1 BC007796.2 BC020191.1 BC043486.2 BC053647.1 

    5 DOTS entries:

    DT.100754305  DT.97804479  DT.101982289  DT.75170218  DT.95279505 

    24/51 AceView cDNA sequences (see all 51):

    BC043486 NM_032892 AW294986 BC007796 CD251954 BC053647 BE907901 Z42067 
    BM468625 F03248 AW473478 BX280430 BM549537 BQ638832 BC020191 AI421905 
    AI287558 BX281755 AW295520 AK090572 BX645122 BG749193 AX746516 AI401118 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FRMD5    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16
    SP1:                                                  -                                                                     
    SP2:                                                                          -                       -                     
    SP3:                                            -     -                                               -                     
    SP4:                          -     -           -     -                                               -                     


    ECgene alternative splicing isoforms for FRMD5

    (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

    FRMD5 expression in normal human tissues (normalized intensities)      FRMD5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGAATGATT
    FRMD5 Expression
    About this image


    FRMD5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 3 entries
             autonomic/sympathetic/ganglion   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   

    See FRMD5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FRMD5

    SOURCE GeneReport for Unigene cluster: Hs.578544
        SABiosciences Custom PCR Arrays for FRMD5
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FRMD5 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Frmd51 , 5 FERM domain containing 51, 5 91.82(n)1
    98.38(a)1
      2 (60.42 cM)5
    2285641  NM_172673.31  NP_766261.21 
     1215455295 
    chicken
    (Gallus gallus)
    Aves FRMD51 FERM domain containing 5 83.16(n)
    92.61(a)
      415576  XM_413944.3  XP_413944.3 
    lizard
    (Anolis carolinensis)
    Reptilia FRMD56
    FERM domain containing 5
    87(a)
    1 ↔ 1
    GL343795.1(150290-195699)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5709031 novel FERM domain containing protein 77.35(n)
    86.97(a)
      570903  XM_694434.5  XP_699526.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50226
    --
    31(a)
    1 → many
    2L(10344442-10347706)
    worm
    (Caenorhabditis elegans)
    Secernentea frm-46
    Protein FRM-4, isoform a
    21(a)
    1 → many
    I(5402895-5408459)


    ENSEMBL Gene Tree for FRMD5 (if available)
    TreeFam Gene Tree for FRMD5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FRMD5 gene
    EPB41L52  EPB412  FRMD32  EPB41L12  PTPN32  EPB41L4B2  FARP12  PTPN42  
    EPB41L32  FRMD72  EPB41L4A2  FARP22  EPB41L22  
    17 SIMAP similar genes for FRMD5 using alignment to 10 protein entries:     FRMD5_HUMAN (see all proteins):
    FRMD3    EPB41L1    EPB41L3    PTPN4    EPB41L4A    FARP1
    EPB41L2    EPB41    EPB41L5    RDX    PTPN3    EPB41L4B
    FRMD4B    PTPN14    EZR-ROS1    FARP2    EZR

    FRMD5 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

    10/5499 SNPs in FRMD5 are shown (see all 5499)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs595378641,2
    C--24478801(+) TTTTT-/TTT   
       
    /TTTT
    AAGTT
    1 -- int11NA 2
    rs1922126811,2
    --44165248(+) TAACGC/GCCCTG 1 -- int10--------
    rs791391251,2
    F--44165282(+) TCTTCG/AGAAAA 1 -- int11Minor allele frequency- A:0.12WA 118
    rs1820086661,2
    --44165284(+) TTCGGA/GAAAAA 1 -- int10--------
    rs1858516061,2
    --44165297(+) AATCAC/TGTTAA 1 -- int10--------
    rs1468846591,2
    C,F--44165368(+) ACTTAC/TCCCAC 1 -- int11Minor allele frequency- T:0.01EU 567
    rs1478940241,2
    C--44165538(+) CTGGC-/AAAAAA 1 -- int10--------
    rs38302851,2
    C--44165545(+) ACAAA-/A/CAAA
            
    AAACT
    1 -- int10--------
    rs1417040111,2
    C--44165558(+) AAACT-/AAAC  
            
    AAACA
    1 -- int10--------
    rs1905082151,2
    --44165612(+) GTGATA/GAGTCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for FRMD5 (44162962 - 44412962 bp, first 250kb of FRMD5)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for FRMD5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749628CNV Deletion23290073
    esv2676192CNV Deletion23128226
    nsv1515CNV Insertion18451855
    esv1620375CNV Insertion17803354
    nsv904176CNV Loss21882294
    nsv94497CNV Loss16902084
    dgv2376n71CNV Loss21882294
    nsv832989CNV Gain+Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FRMD5

    (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

    FRMD5 for disorders           About MalaCards

    FRMD5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FRMD5

    Export disorders for FRMD5 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 FRMD5 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with FRMD5)
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    1. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (2010)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. FERM-containing protein FRMD5 is a p120-catenin intera cting protein that regulates tumor progression. (PubMed id 22846708)1 Wang T....Zhang H. (2012)
    5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    6. Discovery and fine mapping of serum protein loci throu gh transethnic meta-analysis. (PubMed id 23022100)1 Franceschini N....Morris A.P. (2012)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    10. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84978 HGNC: 28214 AceView: MGC14161 Ensembl:ENSG00000171877 euGenes: HUgn84978
    ECgene: FRMD5 H-InvDB: FRMD5

    (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 FRMD5 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 FRMD5 gene:
    Search GeneIP for patents involving FRMD5

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



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