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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:7235601-7427876 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 3.50 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    5254 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2146149
 protein coding gene Chr15:7235598-7428203 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021701
 protein coding gene Chr15:4220388-4410257 (-)
A/J MGP_AJ_G0021662
 protein coding gene Chr15:4127101-4314786 (-)
AKR/J MGP_AKRJ_G0021640
 protein coding gene Chr15:4149435-4333701 (-)
BALB/cJ MGP_BALBcJ_G0021669
 protein coding gene Chr15:4036238-4220092 (-)
C3H/HeJ MGP_C3HHeJ_G0021445
 protein coding gene Chr15:4180707-4374268 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022108
 protein coding gene Chr15:4382020-4574398 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019645
 protein coding gene Chr15:3747215-3924988 (-)
CAST/EiJ MGP_CASTEiJ_G0020961
 protein coding gene Chr15:4160183-4346735 (-)
CBA/J MGP_CBAJ_G0021414
 protein coding gene Chr15:4458753-4668601 (-)
DBA/2J MGP_DBA2J_G0021538
 protein coding gene Chr15:4046298-4241235 (-)
FVB/NJ MGP_FVBNJ_G0021516
 protein coding gene Chr15:3975395-4167237 (-)
LP/J MGP_LPJ_G0021606
 protein coding gene Chr15:4143180-4334744 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021541
 protein coding gene Chr15:4650126-4846143 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022131
 protein coding gene Chr15:4180621-4371435 (-)
PWK/PhJ MGP_PWKPhJ_G0020704
 protein coding gene Chr15:4066387-4249278 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020542
 protein coding gene Chr15:4078510-4266150 (-)
WSB/EiJ MGP_WSBEiJ_G0021017
 protein coding gene Chr15:4116877-4307801 (-)



Homology
more
  • Human Ortholog
    EGFLAM, EGF like, fibronectin type III and laminin G domains
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EGFLAM, EGF like, fibronectin type III and laminin G domains
  • Synonyms
    AGRINL, AGRNL, PIKA
  • Links
    NCBI Gene ID: 133584
    neXtProt AC: NX_Q63HQ2
    UniProt: Q63HQ2

  • Chr Location
    5p13.2-p13.1; chr5:38258409-38465480 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    9 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.
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
less
  • All GO Annotations
    14
  • GO References
    7
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
    711
  • Tissues
    5
  • cDNA Data
    44
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000042961 Ensembl Gene Model | MGI Sequence Detail 192276 C57BL/6J ±  kb
    transcript ENSMUST00000096494 Ensembl | MGI Sequence Detail 4391 Not Applicable  
    polypeptide ENSMUSP00000094238 Ensembl | MGI Sequence Detail 1017 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 44

      Microarray probesets 3
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 5
      Gene Ontology 7
      Phenotypes 9
    • 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:340669 Choi JS, et al., Single-nucleus RNA sequencing of developing superior colliculus identifies neuronal diversity and candidate mediators of circuit assembly. Cell Rep. 2023 Aug 24;42(9):113037
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory