Human Gene EPB42 (ENST00000441366.7) from GENCODE V44
  Description: Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 2, mRNA. (from RefSeq NM_001114134)
RefSeq Summary (NM_001114134): Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000441366.7
Gencode Gene: ENSG00000166947.15
Transcript (Including UTRs)
   Position: hg38 chr15:43,197,227-43,221,018 Size: 23,792 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg38 chr15:43,197,302-43,220,825 Size: 23,524 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:43,197,227-43,221,018)mRNA (may differ from genome)Protein (691 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EPB42_HUMAN
DESCRIPTION: RecName: Full=Erythrocyte membrane protein band 4.2; Short=Erythrocyte protein 4.2; Short=P4.2;
FUNCTION: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
SUBUNIT: Oligomer. Interacts with the cytoplasmic domain of SLC4A1/band 3 anion transport protein.
INTERACTION: P58062:SPINK7; NbExp=3; IntAct=EBI-1182496, EBI-1182445;
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of erythrocyte membranes.
PTM: Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42.
DISEASE: Defects in EPB42 are the cause of spherocytosis type 5 (SPH5) [MIM:612690]; also known as hereditary spherocytosis type 5 (HS5). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported.
MISCELLANEOUS: The substitution of an Ala for a Cys in the active site may be responsible for the lack of transglutaminase activity of band 4.2.
SIMILARITY: Belongs to the transglutaminase superfamily. Transglutaminase family.
SEQUENCE CAUTION: Sequence=AAA36401.1; Type=Frameshift; Positions=335, 340; Sequence=AAA36402.1; Type=Frameshift; Positions=335, 340;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EPB42
Diseases sorted by gene-association score: spherocytosis, type 5* (1200), hereditary spherocytosis* (173), epb42-related spherocytosis* (100), hemolytic anemia (11)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.28 RPKM in Whole Blood
Total median expression: 38.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.20193-0.296 Picture PostScript Text
3' UTR -8.5075-0.113 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023608 - Gln_gamma-glutamylTfrase_euk
IPR013783 - Ig-like_fold
IPR014756 - Ig_E-set
IPR002931 - Transglutaminase-like
IPR008958 - Transglutaminase_C
IPR013808 - Transglutaminase_CS
IPR001102 - Transglutaminase_N

Pfam Domains:
PF00927 - Transglutaminase family, C-terminal ig like domain
PF01841 - Transglutaminase-like superfamily
PF00868 - Transglutaminase family

ModBase Predicted Comparative 3D Structure on P16452
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
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Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003810 protein-glutamine gamma-glutamyltransferase activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0005524 ATP binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0008360 regulation of cell shape
GO:0018149 peptide cross-linking
GO:0043249 erythrocyte maturation

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK297146 - Homo sapiens cDNA FLJ50805 complete cds, highly similar to Erythrocyte membrane protein band 4.2.
AK297663 - Homo sapiens cDNA FLJ52333 complete cds, highly similar to Erythrocyte membrane protein band 4.2.
M29399 - Human erythrocyte membrane protein band 4.2 mRNA, complete cds.
M30646 - Human erythrocyte membrane protein 4.2 (P4.2S) mRNA, complete cds.
M30647 - Human erythrocyte membrane protein 4.2 (P4.2L) mRNA, complete cds.
BC096093 - Homo sapiens erythrocyte membrane protein band 4.2, mRNA (cDNA clone MGC:116734 IMAGE:40001236), complete cds.
BC096094 - Homo sapiens erythrocyte membrane protein band 4.2, mRNA (cDNA clone MGC:116736 IMAGE:40001240), complete cds.
BC096095 - Homo sapiens erythrocyte membrane protein band 4.2, mRNA (cDNA clone IMAGE:40001242), complete cds.
BC099627 - Homo sapiens erythrocyte membrane protein band 4.2, mRNA (cDNA clone MGC:116735 IMAGE:40001239), complete cds.
M60298 - Human erythrocyte membrane protein band 4.2 (EPB42) mRNA, complete cds.
JD390787 - Sequence 371811 from Patent EP1572962.
KJ891112 - Synthetic construct Homo sapiens clone ccsbBroadEn_00506 EPB42 gene, encodes complete protein.
KR711750 - Synthetic construct Homo sapiens clone CCSBHm_00030753 EPB42 (EPB42) mRNA, encodes complete protein.
KR711751 - Synthetic construct Homo sapiens clone CCSBHm_00030754 EPB42 (EPB42) mRNA, encodes complete protein.
KR711752 - Synthetic construct Homo sapiens clone CCSBHm_00030755 EPB42 (EPB42) mRNA, encodes complete protein.
KR711753 - Synthetic construct Homo sapiens clone CCSBHm_00030756 EPB42 (EPB42) mRNA, encodes complete protein.
AB527822 - Synthetic construct DNA, clone: pF1KB5716, Homo sapiens EPB42 gene for erythrocyte membrane protein band 4.2, without stop codon, in Flexi system.
JD020365 - Sequence 1389 from Patent EP1572962.
JD030580 - Sequence 11604 from Patent EP1572962.
JD362741 - Sequence 343765 from Patent EP1572962.
JD043003 - Sequence 24027 from Patent EP1572962.
JD516973 - Sequence 497997 from Patent EP1572962.
JD383063 - Sequence 364087 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: E42P, ENST00000441366.1, ENST00000441366.2, ENST00000441366.3, ENST00000441366.4, ENST00000441366.5, ENST00000441366.6, EPB42_HUMAN, NM_001114134, P16452, Q4VB97, uc001zra.1, uc001zra.2, uc001zra.3, uc001zra.4, uc001zra.5, uc001zra.6
UCSC ID: ENST00000441366.7
RefSeq Accession: NM_001114134
Protein: P16452 (aka EPB42_HUMAN or EP42_HUMAN)
CCDS: CCDS10093.1, CCDS45249.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene EPB42:
epb42-spherocytosis (EPB42-Related Hereditary Spherocytosis)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.