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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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