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Frmd4b FERM domain containing 4B [ Mus musculus (house mouse) ]

Gene ID: 232288, updated on 21-Apr-2024

Summary

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Official Symbol
Frmd4bprovided by MGI
Official Full Name
FERM domain containing 4Bprovided by MGI
Primary source
MGI:MGI:2141794
See related
Ensembl:ENSMUSG00000030064 AllianceGenome:MGI:2141794
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
GRSP1; GOBLIN; 6030440G05Rik
Summary
Acts upstream of or within establishment of epithelial cell polarity. Located in several cellular components, including adherens junction; bicellular tight junction; and ruffle. Is expressed in several structures, including gallbladder; genitourinary system; gut; nervous system; and vascular system. Orthologous to human FRMD4B (FERM domain containing 4B). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E14 (RPKM 6.5), CNS E11.5 (RPKM 6.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
6 D3; 6 44.93 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (97263828..97594618, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (97286867..97617657, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_16780 Neighboring gene ADP-ribosylation factor-like 6 interacting protein 5 Neighboring gene leiomodin 3 (fetal) Neighboring gene predicted gene, 32191 Neighboring gene STARR-seq mESC enhancer starr_16782 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:97271123-97271316 Neighboring gene STARR-seq mESC enhancer starr_16786 Neighboring gene STARR-seq mESC enhancer starr_16788 Neighboring gene STARR-seq mESC enhancer starr_16791 Neighboring gene uncharacterized protein C3orf38 homolog Neighboring gene STARR-seq mESC enhancer starr_16793 Neighboring gene STARR-seq mESC enhancer starr_16794 Neighboring gene STARR-seq mESC enhancer starr_16795 Neighboring gene predicted gene, 46970 Neighboring gene predicted gene, 25852 Neighboring gene predicted gene, 46969 Neighboring gene predicted gene, 23510 Neighboring gene STARR-seq mESC enhancer starr_16799 Neighboring gene predicted gene, 53199 Neighboring gene STARR-seq mESC enhancer starr_16800 Neighboring gene predicted gene, 32247 Neighboring gene predicted gene, 53319 Neighboring gene predicted gene, 32481

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. An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency. Kong Y, et al. Hum Mol Genet, 2018 Oct 1. PMID 29947801, Free PMC Article
  2. Signaling complexes of the FERM domain-containing protein GRSP1 bound to ARF exchange factor GRP1. Klarlund JK, et al. J Biol Chem, 2001 Oct 26. PMID 11445584
  3. 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
  4. Identification of 14-3-3epsilon substrates from embryonic murine brain. Ballif BA, et al. J Proteome Res, 2006 Sep. PMID 16944949
  5. Transcriptome analysis of mouse stem cells and early embryos. Sharov AA, et al. PLoS Biol, 2003 Dec. PMID 14691545, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. his study reveals a critical role of FRMD4B in maintaining ELM integrity and in rescuing morphological abnormalities of the outer nuclear layer in photoreceptor dysplasia.
    Title: An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1)  1 citation
  • Targeted (2) 
  • Endonuclease-mediated (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

  • KIAA1013

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding 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 
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in adherens junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in anchoring 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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in ruffle IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
FERM domain-containing protein 4B
Names
GRP1 binding protein GRSP1
golgi-associated band 4.1-like protein

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_001346637.1 → NP_001333566.1  FERM domain-containing protein 4B isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC155725, AF327856, BC052390
    Consensus CDS
    CCDS85102.1
    UniProtKB/Swiss-Prot
    Q3V1S1, Q920B0, Q920B1, Q9ESP9
    Related
    ENSMUSP00000032146.8, ENSMUST00000032146.14

  2. NM_001346639.1 → NP_001333568.1  FERM domain-containing protein 4B isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon and represents the use of an alternate promoter, resulting in different 5' UTR and 5' coding region, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC155725, AF327856, BC052390
    Consensus CDS
    CCDS85101.1
    UniProtKB/TrEMBL
    Q6ZQ04
    Related
    ENSMUSP00000108986.2, ENSMUST00000113359.8

  3. NM_145148.2 → NP_660130.2  FERM domain-containing protein 4B isoform 3

    See identical proteins and their annotated locations for NP_660130.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF327857, AK132280, BC039783, CN693106
    Consensus CDS
    CCDS39577.1
    UniProtKB/Swiss-Prot
    Q920B0
    Related
    ENSMUSP00000108982.3, ENSMUST00000113355.9
    Conserved Domains (5) summary
    smart00295
    Location:21 → 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 → 474
    DUF3338; Domain of unknown function (DUF3338)
    pfam16006
    Location:479 → 628
    NUSAP; Nucleolar and spindle-associated protein

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_000072.7 Reference GRCm39 C57BL/6J

    Range
    97263828..97594618 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030255350.1 → XP_030111210.1  FERM domain-containing protein 4B isoform X1

    Conserved Domains (5) summary
    smart00295
    Location:21 → 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 → 474
    DUF3338; Domain of unknown function (DUF3338)
    pfam16006
    Location:479 → 628
    NUSAP; Nucleolar and spindle-associated protein

  2. XM_017321537.2 → XP_017177026.1  FERM domain-containing protein 4B isoform X1

    UniProtKB/Swiss-Prot
    Q920B0
    Conserved Domains (5) summary
    smart00295
    Location:21 → 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 → 474
    DUF3338; Domain of unknown function (DUF3338)
    pfam16006
    Location:479 → 628
    NUSAP; Nucleolar and spindle-associated protein

  3. XM_017321538.1 → XP_017177027.1  FERM domain-containing protein 4B isoform X2

    UniProtKB/TrEMBL
    Q6PE61
    Conserved Domains (3) summary
    cd13191
    Location:11 → 121
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam11819
    Location:150 → 283
    DUF3338; Domain of unknown function (DUF3338)
    pfam16006
    Location:288 → 437
    NUSAP; Nucleolar and spindle-associated protein

  4. XM_017321539.2 → XP_017177028.1  FERM domain-containing protein 4B isoform X3

    UniProtKB/TrEMBL
    Q6PE61, Q8C0E8
    Conserved Domains (2) summary
    pfam11819
    Location:47 → 180
    DUF3338; Domain of unknown function (DUF3338)
    cl17171
    Location:1 → 18
    PH-like; Pleckstrin homology-like domain

  5. XM_006506006.1 → XP_006506069.1  FERM domain-containing protein 4B isoform X3

    See identical proteins and their annotated locations for XP_006506069.1

    UniProtKB/TrEMBL
    Q6PE61, Q8C0E8
    Related
    ENSMUST00000143698.8
    Conserved Domains (2) summary
    pfam11819
    Location:47 → 180
    DUF3338; Domain of unknown function (DUF3338)
    cl17171
    Location:1 → 18
    PH-like; Pleckstrin homology-like domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q920B0.2 GenPept UniProtKB/Swiss-Prot:Q920B0

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