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Epb4.2
Gene Detail
 Symbol
Name
ID
Epb4.2
erythrocyte protein band 4.2
MGI:95402
Feature Type protein coding gene
Genetic Map
Chromosome 2
60.37 cM
Detailed Genetic Map ± 1 cM


Mapping data(21)
Sequence Map
Chr2:121017891-121037072 bp, - strand
From VEGA annotation of GRCm38

  19182 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:93  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: TGM_EBP42
Gene Tree: Epb4.2

Human
homologs
Human Homolog EPB42, erythrocyte membrane protein band 4.2
NCBI Gene ID 2038
neXtProt AC  NX_P16452
Human Synonyms  PA, SPH5
Human Chr (Location)  15q15-q21; chr15:43197227-43221125 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human EPB42
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration.
 
Human Diseases Modeled Using Mouse Epb4.2 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Epb4.2 interacts with 259 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cell morphogenesis, erythrocyte maturation, ...
Component cortical cytoskeleton, cytoplasm, ...
Function protein-glutamine gamma-glutamyltransferase activity
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (64)    Tissues (38)    Images (22)
Theiler Stages: 9, 12, 17, 20, 22, 23, 24, 27, 28
Assay TypeResults
RNA in situ 52
Northern blot 12
cDNA source data(31)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(41) Genomic(8) cDNA(31) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000015964 (Evidence)
Ensembl Gene ModelENSMUSG00000023216 (Evidence)
Entrez Gene13828 (Evidence)
UniGene240051
DFCITC1575258
DoTSDT.101180517, DT.101189620, DT.101340033, DT.101380095, DT.50314950, DT.87038481, DT.97332915
NIA Mouse Gene IndexU023255
Consensus CDS ProjectCCDS16631.1
International Mouse Knockout Project StatusEpb4.2
Sequences
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 sequences
All sequences(60) RefSeq(4) UniProt(6)
Polymorphisms RFLP(12) : SNPs within 2kb(226 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR014756 Immunoglobulin E-set
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR023608 Protein-glutamine gamma-glutamyltransferase, eukaryota
InterPro IPR013808 Transglutaminase, conserved site
InterPro IPR008958 Transglutaminase, C-terminal
InterPro IPR002931 Transglutaminase-like
InterPro IPR001102 Transglutaminase, N-terminal
Protein Ontology PR:000007114 erythrocyte membrane protein band 4.2
References (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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(56)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-9559

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
09/23/2014
MGI 5.19
The Jackson Laboratory