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    Frmd7 FERM domain containing 7 [ Mus musculus (house mouse) ]

    Gene ID: 385354, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Frmd7provided by MGI
    Official Full Name
    FERM domain containing 7provided by MGI
    Primary source
    MGI:MGI:2686379
    See related
    Ensembl:ENSMUSG00000036131 AllianceGenome:MGI:2686379
    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
    Gm1533; EG665849
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Involved in regulation of neuron projection development. Acts upstream of or within negative regulation of stress fiber assembly; positive regulation of lamellipodium assembly; and positive regulation of small GTPase mediated signal transduction. Located in growth cone and neuronal cell body. Is expressed in several structures, including brain; eye; heart; liver; and lung. Used to study congenital nystagmus 1. Human ortholog(s) of this gene implicated in congenital nystagmus 1. Orthologous to human FRMD7 (FERM domain containing 7). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in frontal lobe adult (RPKM 9.1), limb E14.5 (RPKM 0.9) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Frmd7 in Genome Data Viewer
    Location:
    X A5; X 27.82 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (49980044..50032493, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (50892643..50943619, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_47143 Neighboring gene predicted gene, 35612 Neighboring gene predicted gene 14620 Neighboring gene STARR-seq mESC enhancer starr_47144 Neighboring gene STARR-seq mESC enhancer starr_47145 Neighboring gene STARR-seq mESC enhancer starr_47146 Neighboring gene STARR-seq mESC enhancer starr_47148 Neighboring gene STARR-seq mESC enhancer starr_47149 Neighboring gene functional intergenic repeating RNA element Neighboring gene STARR-seq mESC enhancer starr_47152 Neighboring gene STARR-seq mESC enhancer starr_47153 Neighboring gene STARR-seq mESC enhancer starr_47154 Neighboring gene serine/threonine kinase 26 Neighboring gene STARR-seq mESC enhancer starr_47158 Neighboring gene STARR-seq mESC enhancer starr_47159 Neighboring gene 40S ribosomal protein S29 pseudogene Neighboring gene RAP2C, member of RAS oncogene family

    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. Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN). Salman A, et al. Genes (Basel), 2020 Sep 30. PMID 33007925, Free PMC Article
    2. Whole-Brain Functional Ultrasound Imaging Reveals Brain Modules for Visuomotor Integration. Macé É, et al. Neuron, 2018 Dec 5. PMID 30521779, Free PMC Article
    3. Frmd7 expression in developing mouse brain. Self J, et al. Eye (Lond), 2010 Jan. PMID 19265863
    4. EyeLoop: An Open-Source System for High-Speed, Closed-Loop Eye-Tracking. Arvin S, et al. Front Cell Neurosci, 2021. PMID 34955752, Free PMC Article
    5. Binocular integration of retinal motion information underlies optic flow processing by the cortex. Rasmussen RN, et al. Curr Biol, 2021 Mar 22. PMID 33484637, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FRMD7 as a key regulator in establishing a neuronal circuit asymmetry
      Title: Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity.
    2. A novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain.
      Title: Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation.
    3. FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic and fetal development.
      Title: The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of stress fiber assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of lamellipodium assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of small GTPase mediated signal transduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in growth cone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    FERM domain-containing protein 7

    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_001190332.2 → NP_001177261.1  FERM domain-containing protein 7

      See identical proteins and their annotated locations for NP_001177261.1

      Status: VALIDATED

      Source sequence(s)
      AL670230
      Consensus CDS
      CCDS53067.1
      UniProtKB/Swiss-Prot
      A2AD83, Q8CCP8
      Related
      ENSMUSP00000057103.6, ENSMUST00000060650.7
      Conserved Domains (4) summary
      cd13193
      Location:179 → 299
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      cd17188
      Location:1 → 86
      FERM_F1_FRMD7; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 7 (FRMD7)
      pfam00373
      Location:85 → 191
      FERM_M; FERM central domain
      pfam08736
      Location:294 → 330
      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_000086.8 Reference GRCm39 C57BL/6J

      Range
      49980044..50032493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006541507.5 → XP_006541570.1  FERM domain-containing protein 7 isoform X2

      Conserved Domains (4) summary
      cd13193
      Location:164 → 284
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      cd17188
      Location:1 → 87
      FERM_F1_FRMD7; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 7 (FRMD7)
      pfam00373
      Location:70 → 176
      FERM_M; FERM central domain
      pfam08736
      Location:279 → 315
      FA; FERM adjacent (FA)

    2. XM_006541505.5 → XP_006541568.1  FERM domain-containing protein 7 isoform X1

      See identical proteins and their annotated locations for XP_006541568.1

      UniProtKB/Swiss-Prot
      A2AD83, Q8CCP8
      Conserved Domains (4) summary
      cd13193
      Location:179 → 299
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      cd17188
      Location:1 → 86
      FERM_F1_FRMD7; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 7 (FRMD7)
      pfam00373
      Location:85 → 191
      FERM_M; FERM central domain
      pfam08736
      Location:294 → 330
      FA; FERM adjacent (FA)

    3. XM_006541506.5 → XP_006541569.1  FERM domain-containing protein 7 isoform X1

      See identical proteins and their annotated locations for XP_006541569.1

      UniProtKB/Swiss-Prot
      A2AD83, Q8CCP8
      Conserved Domains (4) summary
      cd13193
      Location:179 → 299
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      cd17188
      Location:1 → 86
      FERM_F1_FRMD7; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 7 (FRMD7)
      pfam00373
      Location:85 → 191
      FERM_M; FERM central domain
      pfam08736
      Location:294 → 330
      FA; FERM adjacent (FA)

    4. XM_036161999.1 → XP_036017892.1  FERM domain-containing protein 7 isoform X3

      Conserved Domains (3) summary
      smart00295
      Location:1 → 113
      B41; Band 4.1 homologues
      cd13193
      Location:102 → 222
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      pfam08736
      Location:217 → 253
      FA; FERM adjacent (FA)

    5. XM_017318537.3 → XP_017174026.1  FERM domain-containing protein 7 isoform X5

      Conserved Domains (2) summary
      cd13193
      Location:1 → 114
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      pfam08736
      Location:109 → 145
      FA; FERM adjacent (FA)

    6. XM_006541508.5 → XP_006541571.1  FERM domain-containing protein 7 isoform X4

      Conserved Domains (3) summary
      smart00295
      Location:1 → 32
      B41; Band 4.1 homologues
      cd13193
      Location:21 → 141
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      pfam08736
      Location:136 → 172
      FA; FERM adjacent (FA)

    7. XM_011251013.3 → XP_011249315.1  FERM domain-containing protein 7 isoform X6

      Conserved Domains (3) summary
      cd13193
      Location:179 → 299
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      cd17188
      Location:1 → 86
      FERM_F1_FRMD7; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 7 (FRMD7)
      pfam00373
      Location:85 → 191
      FERM_M; FERM central domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2AD83.1 GenPept UniProtKB/Swiss-Prot:A2AD83

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