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Frmd5 Gene Detail
Summary
  • Symbol
    Frmd5
  • Name
    FERM domain containing 5
  • Synonyms
    1500032A09Rik, A930004K21Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442557
    NCBI Gene: 228564
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:121376010-121637568 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 60.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6523 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442557
 protein coding gene Chr2:121376010-121637580 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026399
 protein coding gene Chr2:124475780-124765541 (-)
A/J MGP_AJ_G0026360
 protein coding gene Chr2:119390668-119662927 (-)
AKR/J MGP_AKRJ_G0026338
 protein coding gene Chr2:122756575-123034843 (-)
BALB/cJ MGP_BALBcJ_G0026372
 protein coding gene Chr2:119626013-119893117 (-)
C3H/HeJ MGP_C3HHeJ_G0026118
 protein coding gene Chr2:123215505-123501184 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026820
 protein coding gene Chr2:128540123-128829421 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024198
 protein coding gene Chr2:114399598-114657663 (-)
CAST/EiJ MGP_CASTEiJ_G0025580
 protein coding gene Chr2:123549292-123836330 (-)
CBA/J MGP_CBAJ_G0026096
 protein coding gene Chr2:133038147-133348154 (-)
DBA/2J MGP_DBA2J_G0026233
 protein coding gene Chr2:118797310-119062571 (-)
FVB/NJ MGP_FVBNJ_G0026196
 protein coding gene Chr2:117603040-117872927 (-)
LP/J MGP_LPJ_G0026335
 protein coding gene Chr2:124729994-125016277 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026215
 protein coding gene Chr2:137293154-137581038 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026875
 protein coding gene Chr2:122857775-123143916 (-)
PWK/PhJ MGP_PWKPhJ_G0025316
 protein coding gene Chr2:118406442-118677589 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025115
 protein coding gene Chr2:122019947-122292474 (-)
WSB/EiJ MGP_WSBEiJ_G0025650
 protein coding gene Chr2:123700381-123987366 (-)



Homology
more
  • Human Ortholog
    FRMD5, FERM domain containing 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FRMD5, FERM domain containing 5
  • Synonyms
    NEDEMA
  • Links
    NCBI Gene ID: 84978
    neXtProt AC: NX_Q7Z6J6
    UniProt: Q7Z6J6

  • Chr Location
    15q15.3; chr15:43870761-44199473 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Frmd5 mouse models; 1 with human FRMD5 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 3 alleles in 3 genetic backgrounds
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Null mice exhibit autism spectrum disorder-like behaviors, including learning and memory dysfunction, impaired social function and repetitive stereotyped behavior, as well as dendritic abnormalities and synaptic dysfunction. Females are infertile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1008
  • Tissues
    49
  • cDNA Data
    9
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027238 Ensembl Gene Model | MGI Sequence Detail 261559 C57BL/6J ±  kb
    transcript ENSMUST00000110592 Ensembl | MGI Sequence Detail 2222 Not Applicable  
    polypeptide ENSMUSP00000106222 Ensembl | MGI Sequence Detail 570 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 9

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1916276, MGI:2139544
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 4
      Phenotypes 18
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:345640 Lyu TJ, et al., Deficiency of FRMD5 results in neurodevelopmental dysfunction and autistic-like behavior in mice. Mol Psychiatry. 2024 Jan 16;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory