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Egflam Gene Detail
Summary
  • Symbol
    Egflam
  • Name
    EGF-like, fibronectin type III and laminin G domains
  • Synonyms
    nectican, pikachurin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2146149
    NCBI Gene: 268780
  • Gene Overview
    MyGene.info: EGFLAM
Location & Maps
more
  • Sequence Map
    Chr15:7206120-7398395 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      192276 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 3.50 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    EGFLAM, EGF like, fibronectin type III and laminin G domains
  • Vertebrate Orthologs
    9
  • Human Ortholog
    EGFLAM, EGF like, fibronectin type III and laminin G domains
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AGRINL, AGRNL, PIKA
  • Links
    NCBI Gene ID: 133584
    neXtProt AC: NX_Q63HQ2

  • Chr Location
    5p13.2-p13.1; chr5:38258409-38465480 (+)  GRCh38.p2
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    4 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.
  • All Mutations and Alleles
    4
  • Targeted
    3
  • Transposon induced
    1
  • Genomic Mutations
    1 involving Egflam
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Homozygous null mutants are viable and fertile under normal conditions. They exhibit abnormal photoreceptor ribbon synapses, resulting in alteration in synaptic signal transmission and visual function.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    12
  • GO References
    4
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
    5
  • Tissues
    5
  • cDNA Data
    43
  • Literature Summary
    2
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029264 VEGA Gene Model | MGI Sequence Detail 192276 C57BL/6J ±  kb
transcript OTTMUST00000072508 VEGA | MGI Sequence Detail 4391 Not Applicable  
polypeptide OTTMUSP00000037355 VEGA | MGI Sequence Detail 1017 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    899 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 43
    cDNA 43

    Microarray probesets 3
References
more
  • Summaries
    All 26
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 4
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:184863 Omori Y, et al., Presynaptic dystroglycan-pikachurin complex regulates the proper synaptic connection between retinal photoreceptor and bipolar cells. J Neurosci. 2012 May 2;32(18):6126-37
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory