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Epb42 Gene Detail
Summary
  • Symbol
    Epb42
  • Name
    erythrocyte membrane protein band 4.2
  • Synonyms
    Epb4.2
  • Feature Type
    protein coding gene
  • IDs
    MGI:95402
    NCBI Gene: 13828
  • Gene Overview
    MyGene.info: EPB42
Location & Maps
more
  • Sequence Map
    Chr2:121017891-121037072 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19182 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 60.37 cM
  • Mapping Data
    21 experiments
Homology
more
  • Human Ortholog
    EPB42, erythrocyte membrane protein band 4.2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    EPB42, erythrocyte membrane protein band 4.2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PA, SPH5
  • Links
    NCBI Gene ID: 2038
    neXtProt AC: NX_P16452

  • Chr Location
    15q15-q21; chr15:43197227-43225861 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Epb42 mouse models; 1 with human EPB42 associations

Human Disease Mouse Models
       Spherocytosis, Type 1; SPH1   OMIM: 182900 View 1 model
       Spherocytosis, Type 5; SPH5   OMIM: 612690
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
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  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    11 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
    6
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Epb42
  • Incidental Mutations
Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration.
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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015964 VEGA Gene Model | MGI Sequence Detail 19182 C57BL/6J ±  kb
transcript OTTMUST00000037960 VEGA | MGI Sequence Detail 4115 Not Applicable  
polypeptide OTTMUSP00000017032 VEGA | MGI Sequence Detail 691 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    221 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 41
    Genomic 8
    cDNA 31
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-9559
References
more
  • Summaries
    All 52
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 4
    Phenotypes 11
  • Earliest
    J:8802 Graff RJ, et al., Multiplicity of chromosome 2 histocompatibility genes: new loci, H-44 and H-45. Immunogenetics. 1987;26(1-2):111-4
  • Latest
    J:222166 Baldwin MR, et al., Merozoite surface protein 1 recognition of host glycophorin A mediates malaria parasite invasion of red blood cells. Blood. 2015 Apr 23;125(17):2704-11

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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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory