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    Frmd4a FERM domain containing 4A [ Mus musculus (house mouse) ]

    Gene ID: 209630, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Frmd4aprovided by MGI
    Official Full Name
    FERM domain containing 4Aprovided by MGI
    Primary source
    MGI:MGI:1919850
    See related
    Ensembl:ENSMUSG00000026657 AllianceGenome:MGI:1919850
    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
    Frmd4; Gm13190; mKIAA1294; 5330420J21; 2700017I06Rik; C230040M21Rik
    Summary
    Enables protein-macromolecule adaptor activity. Involved in negative regulation of protein secretion. Acts upstream of or within establishment of epithelial cell polarity. Located in bicellular tight junction. Is expressed in heart; nervous system; paraxial mesenchyme; and thymus primordium. Orthologous to human FRMD4A (FERM domain containing 4A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E18 (RPKM 13.2), whole brain E14.5 (RPKM 12.1) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Frmd4a in Genome Data Viewer
    Location:
    2 A1; 2 2.31 cM
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (4022461..4618854)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (4017650..4614043)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_03518 Neighboring gene STARR-positive B cell enhancer ABC_E9192 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:3644924-3645077 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:3673208-3673317 Neighboring gene family with sequence similarity 107, member B Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:3717012-3717165 Neighboring gene STARR-positive B cell enhancer ABC_E5881 Neighboring gene STARR-seq mESC enhancer starr_03521 Neighboring gene STARR-seq mESC enhancer starr_03522 Neighboring gene predicted gene, 36031 Neighboring gene STARR-seq mESC enhancer starr_03523 Neighboring gene RIKEN cDNA 1700080N15 gene Neighboring gene polypyrimidine tract-binding protein 1 pseudogene Neighboring gene UPF0688 protein C1orf174 homolog pseudogene Neighboring gene VISTA enhancer mm1695 Neighboring gene uncharacterized LOC102639987 Neighboring gene predicted gene, 39752 Neighboring gene VISTA enhancer mm418 Neighboring gene VISTA enhancer mm28 Neighboring gene VISTA enhancer mm419 Neighboring gene VISTA enhancer mm420 Neighboring gene predicted gene, 23691 Neighboring gene predicted gene, 39751 Neighboring gene VISTA enhancer mm422 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:4480752-4480861 Neighboring gene STARR-seq mESC enhancer starr_03538 Neighboring gene VISTA enhancer mm423 Neighboring gene STARR-seq mESC enhancer starr_03540 Neighboring gene STARR-seq mESC enhancer starr_03542 Neighboring gene predicted gene 13179 Neighboring gene STARR-seq mESC enhancer starr_03543 Neighboring gene STARR-seq mESC enhancer starr_03544 Neighboring gene pre-mRNA processing factor 18 Neighboring gene ribosomal protein L22 pseudogene

    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. Sonic hedgehog signaling regulates actin cytoskeleton via Tiam1-Rac1 cascade during spine formation. Sasaki N, et al. Mol Cell Neurosci, 2010 Dec. PMID 20654717
    2. FRMD4A regulates epithelial polarity by connecting Arf6 activation with the PAR complex. Ikenouchi J, et al. Proc Natl Acad Sci U S A, 2010 Jan 12. PMID 20080746, Free PMC Article
    3. FRMD4A-cytohesin signaling modulates the cellular release of tau. Yan X, et al. J Cell Sci, 2016 May 15. PMID 27044754
    4. Regulation of mesenchymal-to-epithelial transition by PARAXIS during somitogenesis. Rowton M, et al. Dev Dyn, 2013 Nov. PMID 24038871
    5. A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Kalsotra A, et al. Proc Natl Acad Sci U S A, 2008 Dec 23. PMID 19075228, Free PMC Article

    See all (30) 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 (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein-macromolecule adaptor activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within establishment of epithelial cell polarity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    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 4A

    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_001177843.1 → NP_001171314.1  FERM domain-containing protein 4A isoform 2

      See identical proteins and their annotated locations for NP_001171314.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon, and differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK082365, BC082808, BP768112
      Consensus CDS
      CCDS50488.1
      UniProtKB/Swiss-Prot
      B1AXK1, B1AXK2, Q6PDJ4, Q8BIE6, Q8CHA6
      Related
      ENSMUSP00000075172.8, ENSMUST00000075767.14
      Conserved Domains (4) summary
      smart00295
      Location:6 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:3 → 91
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:341 → 475
      DUF3338; Domain of unknown function (DUF3338)

    2. NM_001177844.1 → NP_001171315.1  FERM domain-containing protein 4A isoform 3

      See identical proteins and their annotated locations for NP_001171315.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK171532, BC082808, BP768112, CJ101444
      Consensus CDS
      CCDS57151.1
      UniProtKB/TrEMBL
      Q3TB04
      Related
      ENSMUSP00000134803.2, ENSMUST00000176828.8
      Conserved Domains (2) summary
      pfam11819
      Location:75 → 182
      DUF3338; Domain of unknown function (DUF3338)
      cl17171
      Location:1 → 18
      PH-like; Pleckstrin homology-like domain

    3. NM_001347086.1 → NP_001334015.1  FERM domain-containing protein 4A isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences compared to variant 1. The encoded protein has unique N- and C-termini compared to isoform 1.
      Source sequence(s)
      AL807832, AL845441, AL928947
      Consensus CDS
      CCDS84466.1
      UniProtKB/TrEMBL
      H3BIZ7
      Related
      ENSMUSP00000134788.2, ENSMUST00000177457.8
      Conserved Domains (4) summary
      smart00295
      Location:21 → 221
      B41; Band 4.1 homologues
      cd13191
      Location:217 → 327
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:18 → 106
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:356 → 490
      DUF3338; Domain of unknown function (DUF3338)

    4. NM_172475.3 → NP_766063.3  FERM domain-containing protein 4A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC058672, BC082808, BP768112, BY138785
      Consensus CDS
      CCDS15656.2
      UniProtKB/Swiss-Prot
      Q8BIE6
      Related
      ENSMUSP00000089079.5, ENSMUST00000091497.11
      Conserved Domains (3) summary
      smart00295
      Location:17 → 217
      B41; Band 4.1 homologues
      cd13191
      Location:213 → 323
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      pfam11819
      Location:379 → 486
      DUF3338; Domain of unknown function (DUF3338)

    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
      4022461..4618854
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497439.4 → XP_006497502.1  FERM domain-containing protein 4A isoform X4

      Conserved Domains (4) summary
      smart00295
      Location:21 → 221
      B41; Band 4.1 homologues
      cd13191
      Location:217 → 327
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:18 → 106
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:356 → 490
      DUF3338; Domain of unknown function (DUF3338)

    2. XM_036160208.1 → XP_036016101.1  FERM domain-containing protein 4A isoform X5

      Conserved Domains (4) summary
      smart00295
      Location:17 → 217
      B41; Band 4.1 homologues
      cd13191
      Location:213 → 323
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:14 → 102
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:352 → 486
      DUF3338; Domain of unknown function (DUF3338)

    3. XM_006497437.4 → XP_006497500.1  FERM domain-containing protein 4A isoform X2

      Conserved Domains (4) summary
      smart00295
      Location:28 → 228
      B41; Band 4.1 homologues
      cd13191
      Location:224 → 334
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:25 → 113
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:363 → 497
      DUF3338; Domain of unknown function (DUF3338)

    4. XM_006497438.4 → XP_006497501.1  FERM domain-containing protein 4A isoform X3

      Conserved Domains (4) summary
      smart00295
      Location:36 → 236
      B41; Band 4.1 homologues
      cd13191
      Location:232 → 342
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:33 → 121
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:371 → 505
      DUF3338; Domain of unknown function (DUF3338)

    5. XM_006497436.4 → XP_006497499.1  FERM domain-containing protein 4A isoform X1

      Conserved Domains (4) summary
      smart00295
      Location:36 → 236
      B41; Band 4.1 homologues
      cd13191
      Location:232 → 342
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:33 → 121
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:371 → 505
      DUF3338; Domain of unknown function (DUF3338)

    6. XM_006497443.4 → XP_006497506.1  FERM domain-containing protein 4A isoform X8

      Conserved Domains (4) summary
      smart00295
      Location:36 → 236
      B41; Band 4.1 homologues
      cd13191
      Location:232 → 342
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:33 → 121
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:371 → 505
      DUF3338; Domain of unknown function (DUF3338)

    7. XM_006497441.2 → XP_006497504.1  FERM domain-containing protein 4A isoform X6

      See identical proteins and their annotated locations for XP_006497504.1

      UniProtKB/Swiss-Prot
      Q8BIE6
      Conserved Domains (4) summary
      smart00295
      Location:6 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:3 → 91
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:341 → 475
      DUF3338; Domain of unknown function (DUF3338)

    8. XM_030249169.2 → XP_030105029.1  FERM domain-containing protein 4A isoform X7

      UniProtKB/Swiss-Prot
      B1AXK1, B1AXK2, Q6PDJ4, Q8BIE6, Q8CHA6
      Conserved Domains (4) summary
      smart00295
      Location:6 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:3 → 91
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:341 → 475
      DUF3338; Domain of unknown function (DUF3338)

    9. XM_006497442.3 → XP_006497505.1  FERM domain-containing protein 4A isoform X6

      See identical proteins and their annotated locations for XP_006497505.1

      UniProtKB/Swiss-Prot
      Q8BIE6
      Conserved Domains (4) summary
      smart00295
      Location:6 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:3 → 91
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:341 → 475
      DUF3338; Domain of unknown function (DUF3338)

    10. XM_006497440.1 → XP_006497503.1  FERM domain-containing protein 4A isoform X6

      See identical proteins and their annotated locations for XP_006497503.1

      UniProtKB/Swiss-Prot
      Q8BIE6
      Conserved Domains (4) summary
      smart00295
      Location:6 → 206
      B41; Band 4.1 homologues
      cd13191
      Location:202 → 312
      FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
      cd17200
      Location:3 → 91
      FERM_F1_FRMD4B; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 4B (FRMD4B)
      pfam11819
      Location:341 → 475
      DUF3338; Domain of unknown function (DUF3338)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BIE6.2 GenPept UniProtKB/Swiss-Prot:Q8BIE6

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