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

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; chr15:43489425-43513323 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EPB42

Alleles and phenotypes

All alleles(4) : Targeted(3) Gene trapped(1)
 

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)   

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 (37)    Images (22)
Theiler Stages: 9, 12, 17, 20, 22, 23, 24, 28

Assay Type	Results
RNA in situ	52
Northern blot	12

cDNA source data(31)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(41) Genomic(8) cDNA(31) Primer pair(2)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000015964 (Evidence)
Ensembl Gene Model	ENSMUSG00000023216 (Evidence)
Entrez Gene	13828 (Evidence)
UniGene	240051
DFCI	TC1575258
DoTS	DT.101180517, DT.101189620, DT.101340033, DT.101380095, DT.50314950, DT.87038481, DT.97332915
NIA Mouse Gene Index	U023255
Consensus CDS Project	CCDS16631.1
International Mouse Knockout Project Status	Epb4.2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015964	VEGA Gene Model | MGI Sequence Detail	19182	C57BL/6J
transcript	OTTMUST00000037960	VEGA | MGI Sequence Detail	4115	Not Applicable
polypeptide	OTTMUSP00000017032	VEGA | MGI Sequence Detail	691	Not Applicable

All sequences(58) RefSeq(2) UniProt(6)

Polymorphisms

RFLP(12) : SNPs(115 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-9559