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    Frmd5 FERM domain containing 5 [ Mus musculus (house mouse) ]

    Gene ID: 228564, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Frmd5provided by MGI
    Official Full Name
    FERM domain containing 5provided by MGI
    Primary source
    MGI:MGI:2442557
    See related
    Ensembl:ENSMUSG00000027238 AllianceGenome:MGI:2442557
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1500032A09Rik; A930004K21Rik
    Summary
    Predicted to enable integrin binding activity and protein kinase binding activity. Predicted to be involved in several processes, including actomyosin structure organization; negative regulation of cell motility; and positive regulation of cell adhesion. Predicted to be located in adherens junction. Predicted to be active in cytoskeleton. Is expressed in several structures, including alimentary system; nervous system; respiratory system; sensory organ; and urinary system. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia. Orthologous to human FRMD5 (FERM domain containing 5). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart adult (RPKM 21.0), adrenal adult (RPKM 20.2) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Frmd5 in Genome Data Viewer
    Location:
    2 E5; 2 60.42 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (121376010..121637580, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (121545529..121807087, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:121332344-121332527 Neighboring gene STARR-seq mESC enhancer starr_05528 Neighboring gene microfibrillar-associated protein 1A Neighboring gene WD repeat domain 76 Neighboring gene STARR-seq mESC enhancer starr_05532 Neighboring gene STARR-seq mESC enhancer starr_05533 Neighboring gene STARR-seq mESC enhancer starr_05535 Neighboring gene STARR-seq mESC enhancer starr_05536 Neighboring gene septin 2 pseudogene Neighboring gene ribosomal protein S4, X-linked pseudogene Neighboring gene STARR-seq mESC enhancer starr_05538 Neighboring gene STARR-seq mESC enhancer starr_05541 Neighboring gene STARR-seq mESC enhancer starr_05542 Neighboring gene golgi membrane protein 2 Neighboring gene predicted gene, 39916

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Deficiency of FRMD5 results in neurodevelopmental dysfunction and autistic-like behavior in mice. Lyu TJ, et al. Mol Psychiatry, 2024 May. PMID 38228891
    2. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    3. Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Bedogni F, et al. Front Mol Neurosci, 2021. PMID 34321999, Free PMC Article
    4. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5)  1 citation
    • Gene trapped (1) 
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • 5830442F04, 1500032A09Rik, A930004K21Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cytoskeletal protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables integrin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cell motility ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in adherens junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    FERM domain-containing protein 5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001360084.1 → NP_001347013.1  FERM domain-containing protein 5 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL845286, AL928678
      Consensus CDS
      CCDS89547.1
      UniProtKB/TrEMBL
      A2AR56, B0R0D5
      Related
      ENSMUSP00000106222.2, ENSMUST00000110592.2
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      cd13192
      Location:191 → 295
      FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
      pfam08736
      Location:309 → 354
      FA; FERM adjacent (FA)

    2. NM_172673.3 → NP_766261.2  FERM domain-containing protein 5 isoform 2

      See identical proteins and their annotated locations for NP_766261.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' structure, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a novel C-terminus compared to isoform 1.
      Source sequence(s)
      AL845286, AL928678, BC062889
      Consensus CDS
      CCDS16649.1
      UniProtKB/Swiss-Prot
      B0R0I9, Q6P5H6, Q6PFH6, Q8C0K0
      UniProtKB/TrEMBL
      B0R0D4
      Related
      ENSMUSP00000115136.2, ENSMUST00000138157.8
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      cd13192
      Location:191 → 295
      FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
      pfam08736
      Location:309 → 354
      FA; FERM adjacent (FA)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      121376010..121637580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317740.2 → XP_017173229.1  FERM domain-containing protein 5 isoform X7

      UniProtKB/TrEMBL
      B0R0D4
      Related
      ENSMUSP00000118269.2, ENSMUST00000133898.8
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      cd13192
      Location:191 → 295
      FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
      pfam08736
      Location:309 → 354
      FA; FERM adjacent (FA)

    2. XM_036161344.1 → XP_036017237.1  FERM domain-containing protein 5 isoform X8

      UniProtKB/TrEMBL
      B0R0D4
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      cd13192
      Location:191 → 295
      FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
      pfam08736
      Location:309 → 354
      FA; FERM adjacent (FA)

    3. XM_036161347.1 → XP_036017240.1  FERM domain-containing protein 5 isoform X9

      UniProtKB/TrEMBL
      B0R0D4
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      cd13192
      Location:191 → 295
      FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
      pfam08736
      Location:309 → 354
      FA; FERM adjacent (FA)

    4. XM_017317742.2 → XP_017173231.1  FERM domain-containing protein 5 isoform X11

      UniProtKB/TrEMBL
      B0R0D5
      Related
      ENSMUSP00000120176.2, ENSMUST00000155570.8
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      cd13192
      Location:191 → 295
      FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
      pfam08736
      Location:309 → 354
      FA; FERM adjacent (FA)

    5. XM_017317734.2 → XP_017173223.1  FERM domain-containing protein 5 isoform X2

      UniProtKB/TrEMBL
      B0R0D4
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      pfam08736
      Location:338 → 383
      FA; FERM adjacent (FA)
      cl17171
      Location:191 → 324
      PH-like; Pleckstrin homology-like domain

    6. XM_017317738.2 → XP_017173227.1  FERM domain-containing protein 5 isoform X5

      UniProtKB/TrEMBL
      B0R0D4
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      pfam08736
      Location:338 → 383
      FA; FERM adjacent (FA)
      cl17171
      Location:191 → 324
      PH-like; Pleckstrin homology-like domain

    7. XM_030250396.2 → XP_030106256.1  FERM domain-containing protein 5 isoform X3

      UniProtKB/TrEMBL
      B0R0D4
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      pfam08736
      Location:338 → 383
      FA; FERM adjacent (FA)
      cl17171
      Location:191 → 324
      PH-like; Pleckstrin homology-like domain

    8. XM_017317739.2 → XP_017173228.1  FERM domain-containing protein 5 isoform X6

      UniProtKB/TrEMBL
      B0R0D5
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      pfam08736
      Location:338 → 383
      FA; FERM adjacent (FA)
      cl17171
      Location:191 → 324
      PH-like; Pleckstrin homology-like domain

    9. XM_011239466.3 → XP_011237768.1  FERM domain-containing protein 5 isoform X1

      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      pfam08736
      Location:338 → 383
      FA; FERM adjacent (FA)
      cl17171
      Location:191 → 324
      PH-like; Pleckstrin homology-like domain

    10. XM_036161348.1 → XP_036017241.1  FERM domain-containing protein 5 isoform X12

      UniProtKB/TrEMBL
      Q8BXT6
      Conserved Domains (3) summary
      smart00295
      Location:2 → 121
      B41; Band 4.1 homologues
      cd13192
      Location:102 → 206
      FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
      pfam08736
      Location:220 → 265
      FA; FERM adjacent (FA)

    11. XM_011239469.4 → XP_011237771.1  FERM domain-containing protein 5 isoform X10

      Related
      ENSMUSP00000113568.2, ENSMUST00000121219.8
      Conserved Domains (3) summary
      pfam00373
      Location:11 → 121
      FERM_M; FERM central domain
      pfam08736
      Location:249 → 294
      FA; FERM adjacent (FA)
      cl17171
      Location:102 → 235
      PH-like; Pleckstrin homology-like domain

    12. XM_017317736.3 → XP_017173225.1  FERM domain-containing protein 5 isoform X4

      UniProtKB/TrEMBL
      B0R0D4
      Conserved Domains (3) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      pfam08736
      Location:338 → 383
      FA; FERM adjacent (FA)
      cl17171
      Location:191 → 324
      PH-like; Pleckstrin homology-like domain

    13. XM_036161349.1 → XP_036017242.1  FERM domain-containing protein 5 isoform X13

      Conserved Domains (2) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      cl17171
      Location:191 → 324
      PH-like; Pleckstrin homology-like domain

    14. XM_036161350.1 → XP_036017243.1  FERM domain-containing protein 5 isoform X14

      UniProtKB/TrEMBL
      Q8BX61
      Related
      ENSMUSP00000116468.2, ENSMUST00000128428.8
      Conserved Domains (2) summary
      smart00295
      Location:19 → 210
      B41; Band 4.1 homologues
      cl17171
      Location:191 → 247
      PH-like; Pleckstrin homology-like domain

    RNA

    1. XR_004939972.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P5H6.1 GenPept UniProtKB/Swiss-Prot:Q6P5H6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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