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

Gene ID: 385354, updated on 8-Mar-2025

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
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, Mar 2025]
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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