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Frmd5 FERM domain containing 5 [ Mus musculus (house mouse) ]

Gene ID: 228564, updated on 2-Nov-2024

Summary

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Official Symbol
Frmd5provided by MGI
Official Full Name
FERM domain containing 5provided by MGI
Primary source
MGI:MGI:2442557
See related
Ensembl:ENSMUSG00000027238 AllianceGenome:MGI:2442557
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
1500032A09Rik; A930004K21Rik
Summary
Predicted to enable integrin binding activity and protein kinase binding activity. Predicted to be involved in several processes, including actomyosin structure organization; negative regulation of cell motility; and positive regulation of cell adhesion. Predicted to be located in adherens junction. Predicted to be active in cytoskeleton. Is expressed in several structures, including alimentary system; nervous system; respiratory system; sensory organ; and urinary system. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia. Orthologous to human FRMD5 (FERM domain containing 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in heart adult (RPKM 21.0), adrenal adult (RPKM 20.2) and 9 other tissues See more
Orthologs
human all
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Genomic context

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See Frmd5 in Genome Data Viewer
Location:
2 E5; 2 60.42 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (121376010..121637580, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (121545529..121807087, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:121332344-121332527 Neighboring gene STARR-seq mESC enhancer starr_05528 Neighboring gene microfibrillar-associated protein 1A Neighboring gene WD repeat domain 76 Neighboring gene STARR-seq mESC enhancer starr_05532 Neighboring gene STARR-seq mESC enhancer starr_05533 Neighboring gene STARR-seq mESC enhancer starr_05535 Neighboring gene STARR-seq mESC enhancer starr_05536 Neighboring gene septin 2 pseudogene Neighboring gene ribosomal protein S4, X-linked pseudogene Neighboring gene STARR-seq mESC enhancer starr_05538 Neighboring gene STARR-seq mESC enhancer starr_05541 Neighboring gene STARR-seq mESC enhancer starr_05542 Neighboring gene golgi membrane protein 2 Neighboring gene predicted gene, 39916

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 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. Deficiency of FRMD5 results in neurodevelopmental dysfunction and autistic-like behavior in mice. Lyu TJ, et al. Mol Psychiatry, 2024 May. PMID 38228891
  2. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
  3. Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Bedogni F, et al. Front Mol Neurosci, 2021. PMID 34321999, Free PMC Article
  4. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
  5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

See all (19) 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 (5)  1 citation
  • Gene trapped (1) 
  • Targeted (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

  • 5830442F04, 1500032A09Rik, A930004K21Rik

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
  
enables integrin binding ISO
Inferred from Sequence Orthology
more info
  
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cell motility ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cell adhesion ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cell migration ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in adherens junction IEA
Inferred from Electronic Annotation
more info
  
located_in adherens junction ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
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 5

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_001360084.1 → NP_001347013.1  FERM domain-containing protein 5 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL845286, AL928678
    Consensus CDS
    CCDS89547.1
    UniProtKB/TrEMBL
    A2AR56, B0R0D5
    Related
    ENSMUSP00000106222.2, ENSMUST00000110592.2
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cd13192
    Location:191 → 295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:309 → 354
    FA; FERM adjacent (FA)

  2. NM_172673.3 → NP_766261.2  FERM domain-containing protein 5 isoform 2

    See identical proteins and their annotated locations for NP_766261.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' structure, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a novel C-terminus compared to isoform 1.
    Source sequence(s)
    AL845286, AL928678, BC062889
    Consensus CDS
    CCDS16649.1
    UniProtKB/Swiss-Prot
    B0R0I9, Q6P5H6, Q6PFH6, Q8C0K0
    UniProtKB/TrEMBL
    B0R0D4
    Related
    ENSMUSP00000115136.2, ENSMUST00000138157.8
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cd13192
    Location:191 → 295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:309 → 354
    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_000068.8 Reference GRCm39 C57BL/6J

    Range
    121376010..121637580 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017317740.2 → XP_017173229.1  FERM domain-containing protein 5 isoform X7

    UniProtKB/TrEMBL
    B0R0D4
    Related
    ENSMUSP00000118269.2, ENSMUST00000133898.8
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cd13192
    Location:191 → 295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:309 → 354
    FA; FERM adjacent (FA)

  2. XM_036161344.1 → XP_036017237.1  FERM domain-containing protein 5 isoform X8

    UniProtKB/TrEMBL
    B0R0D4
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cd13192
    Location:191 → 295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:309 → 354
    FA; FERM adjacent (FA)

  3. XM_036161347.1 → XP_036017240.1  FERM domain-containing protein 5 isoform X9

    UniProtKB/TrEMBL
    B0R0D4
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cd13192
    Location:191 → 295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:309 → 354
    FA; FERM adjacent (FA)

  4. XM_017317742.2 → XP_017173231.1  FERM domain-containing protein 5 isoform X11

    UniProtKB/TrEMBL
    B0R0D5
    Related
    ENSMUSP00000120176.2, ENSMUST00000155570.8
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cd13192
    Location:191 → 295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:309 → 354
    FA; FERM adjacent (FA)

  5. XM_017317734.2 → XP_017173223.1  FERM domain-containing protein 5 isoform X2

    UniProtKB/TrEMBL
    B0R0D4
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    pfam08736
    Location:338 → 383
    FA; FERM adjacent (FA)
    cl17171
    Location:191 → 324
    PH-like; Pleckstrin homology-like domain

  6. XM_017317738.2 → XP_017173227.1  FERM domain-containing protein 5 isoform X5

    UniProtKB/TrEMBL
    B0R0D4
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    pfam08736
    Location:338 → 383
    FA; FERM adjacent (FA)
    cl17171
    Location:191 → 324
    PH-like; Pleckstrin homology-like domain

  7. XM_030250396.2 → XP_030106256.1  FERM domain-containing protein 5 isoform X3

    UniProtKB/TrEMBL
    B0R0D4
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    pfam08736
    Location:338 → 383
    FA; FERM adjacent (FA)
    cl17171
    Location:191 → 324
    PH-like; Pleckstrin homology-like domain

  8. XM_017317739.2 → XP_017173228.1  FERM domain-containing protein 5 isoform X6

    UniProtKB/TrEMBL
    B0R0D5
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    pfam08736
    Location:338 → 383
    FA; FERM adjacent (FA)
    cl17171
    Location:191 → 324
    PH-like; Pleckstrin homology-like domain

  9. XM_011239466.3 → XP_011237768.1  FERM domain-containing protein 5 isoform X1

    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    pfam08736
    Location:338 → 383
    FA; FERM adjacent (FA)
    cl17171
    Location:191 → 324
    PH-like; Pleckstrin homology-like domain

  10. XM_036161348.1 → XP_036017241.1  FERM domain-containing protein 5 isoform X12

    UniProtKB/TrEMBL
    Q8BXT6
    Conserved Domains (3) summary
    smart00295
    Location:2 → 121
    B41; Band 4.1 homologues
    cd13192
    Location:102 → 206
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:220 → 265
    FA; FERM adjacent (FA)

  11. XM_011239469.4 → XP_011237771.1  FERM domain-containing protein 5 isoform X10

    Related
    ENSMUSP00000113568.2, ENSMUST00000121219.8
    Conserved Domains (3) summary
    pfam00373
    Location:11 → 121
    FERM_M; FERM central domain
    pfam08736
    Location:249 → 294
    FA; FERM adjacent (FA)
    cl17171
    Location:102 → 235
    PH-like; Pleckstrin homology-like domain

  12. XM_017317736.3 → XP_017173225.1  FERM domain-containing protein 5 isoform X4

    UniProtKB/TrEMBL
    B0R0D4
    Conserved Domains (3) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    pfam08736
    Location:338 → 383
    FA; FERM adjacent (FA)
    cl17171
    Location:191 → 324
    PH-like; Pleckstrin homology-like domain

  13. XM_036161349.1 → XP_036017242.1  FERM domain-containing protein 5 isoform X13

    Conserved Domains (2) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cl17171
    Location:191 → 324
    PH-like; Pleckstrin homology-like domain

  14. XM_036161350.1 → XP_036017243.1  FERM domain-containing protein 5 isoform X14

    UniProtKB/TrEMBL
    Q8BX61
    Related
    ENSMUSP00000116468.2, ENSMUST00000128428.8
    Conserved Domains (2) summary
    smart00295
    Location:19 → 210
    B41; Band 4.1 homologues
    cl17171
    Location:191 → 247
    PH-like; Pleckstrin homology-like domain

RNA

  1. XR_004939972.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P5H6.1 GenPept UniProtKB/Swiss-Prot:Q6P5H6

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