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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:120848372-120867358 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 60.37 cM
  • Mapping Data
    21 experiments
Strain
Comparison
more
  • SNPs within 2kb
    533 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    12
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95402
 protein coding gene Chr2:120848372-120867553 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026378
 protein coding gene Chr2:123896014-123915187 (-)
A/J MGP_AJ_G0026339
 protein coding gene Chr2:118828426-118847619 (-)
AKR/J MGP_AKRJ_G0026318
 protein coding gene Chr2:122160901-122181927 (-)
BALB/cJ MGP_BALBcJ_G0026352
 protein coding gene Chr2:119062759-119081948 (-)
C3H/HeJ MGP_C3HHeJ_G0026098
 protein coding gene Chr2:122647666-122667089 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026799
 protein coding gene Chr2:127962776-127981957 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024179
 protein coding gene Chr2:113871045-113890437 (-)
CAST/EiJ MGP_CASTEiJ_G0025560
 protein coding gene Chr2:122961592-122982256 (-)
CBA/J MGP_CBAJ_G0026074
 protein coding gene Chr2:132420748-132440146 (-)
DBA/2J MGP_DBA2J_G0026213
 protein coding gene Chr2:118229021-118248212 (-)
FVB/NJ MGP_FVBNJ_G0026175
 protein coding gene Chr2:117048472-117068049 (-)
LP/J MGP_LPJ_G0026314
 protein coding gene Chr2:124156986-124177447 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026194
 protein coding gene Chr2:136720828-136740346 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026854
 protein coding gene Chr2:122281034-122301249 (-)
PWK/PhJ MGP_PWKPhJ_G0025296
 protein coding gene Chr2:117827726-117846992 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025095
 protein coding gene Chr2:121498069-121517366 (-)
WSB/EiJ MGP_WSBEiJ_G0025629
 protein coding gene Chr2:123108284-123128394 (-)



Homology
more
  • Human Ortholog
    EPB42, erythrocyte membrane protein band 4.2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPB42, erythrocyte membrane protein band 4.2
  • Synonyms
    PA, SPH5
  • Links
    NCBI Gene ID: 2038
    neXtProt AC: NX_P16452
    UniProt: P16452

  • Chr Location
    15q15.2; chr15:43197227-43225737 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Epb42 mouse models; 2 with human EPB42 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    13 phenotypes from 1 allele in 1 genetic background
    14 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.
Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    8
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
    770
  • Tissues
    38
  • cDNA Data
    32
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13828 NCBI Gene Model | MGI Sequence Detail 18987 C57BL/6J ±  kb
    transcript NM_013513 RefSeq | MGI Sequence Detail 3920 ZRU/MplStud  
    polypeptide P49222 UniProt | EBI | MGI Sequence Detail 691 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 8
      cDNA 32
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9559
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 8
      Phenotypes 14
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:342218 Matte A, et al., Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis. JCI Insight. 2023 Oct 23;8(20)
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory