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Epb41l2 Gene Detail
Summary
  • Symbol
    Epb41l2
  • Name
    erythrocyte membrane protein band 4.1 like 2
  • Synonyms
    4.1G, D10Ertd398e, Epb4.1l2, NBL2
  • Feature Type
    protein coding gene
  • IDs
    MGI:103009
    NCBI Gene: 13822
  • Gene Overview
    MyGene.info: EPB41L2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:25359798-25523519 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      163722 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 12.26 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    EPB41L2, erythrocyte membrane protein band 4.1 like 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EPB41L2, erythrocyte membrane protein band 4.1 like 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    4.1G, 4.1-G
  • Links
    NCBI Gene ID: 2037
    neXtProt AC: NX_O43491
    UniProt: O43491

  • Chr Location
    6q23.1-q23.2; chr6:130829111-131063322 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 3 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    22 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.
Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13822 NCBI Gene Model | MGI Sequence Detail 163722 C57BL/6J ±  kb
    transcript NM_001199265 RefSeq | MGI Sequence Detail 4389 Not Specified  
    polypeptide O70318 UniProt | EBI | MGI Sequence Detail 988 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      975 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 279
      cDNA 276
      Primer pair 2
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-23846, MGI:1196302, MGI:2143867
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 5
      Gene Ontology 7
      Phenotypes 22
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:255082 Kurogi S, et al., Development of an efficient screening system to identify novel bone metabolism-related genes using the exchangeable gene trap mutagenesis mouse models. Sci Rep. 2017 Jan 20;7:40692

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory