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EPB42 erythrocyte membrane protein band 4.2 [ Homo sapiens (human) ]

Gene ID: 2038, updated on 3-Apr-2024

Summary

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Official Symbol
EPB42provided by HGNC
Official Full Name
erythrocyte membrane protein band 4.2provided by HGNC
Primary source
HGNC:HGNC:3381
See related
Ensembl:ENSG00000166947 MIM:177070; AllianceGenome:HGNC:3381
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PA; SPH5
Summary
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]
Expression
Restricted expression toward bone marrow (RPKM 26.6) See more
Orthologs
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Genomic context

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See EPB42 in Genome Data Viewer
Location:
15q15.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43197227..43225737, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41004516..41033028, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43489425..43513216, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 62 Neighboring gene farnesyl diphosphate synthase pseudogene 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:43459413-43460109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43467716-43468216 Neighboring gene uncharacterized LOC124903478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9310 Neighboring gene cyclin D1 binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 15360 Neighboring gene transglutaminase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9311 Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. EPB42-Related Hereditary Spherocytosis. Adam MP, et al. , 1993. PMID 24624460
  2. Protein 4.2: a complex linker. Satchwell TJ, et al. Blood Cells Mol Dis, 2009 May-Jun. PMID 19269200
  3. Mapping of a palmitoylatable band 3-binding domain of human erythrocyte membrane protein 4.2. Bhattacharyya R, et al. Biochem J, 1999 Jun 1. PMID 10333496, Free PMC Article
  4. Structural domain mapping and phosphorylation of human erythrocyte pallidin (band 4.2). Dotimas E, et al. Biochim Biophys Acta, 1993 May 14. PMID 8499466
  5. Human erythrocyte membrane protein 4.2 is palmitoylated. Das AK, et al. Eur J Biochem, 1994 Sep 1. PMID 7925374

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. study shows that cytoplasmic hereditary spherocytosis mutants cause impaired binding of protein 4.2 to AE1, leaving protein 4.2 susceptible to loss during erythrocyte development
    Title: Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1.
  2. Data suggest that one or both of proteins 4.1 and 4.2 cause a portion of band 3 to localize near the spectrin-actin junctions and provide another point of attachment between the membrane skeleton and the lipid bilayer.
    Title: Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner.
  3. Current understanding of protein 4.2, its known interactions & implications of protein 4.2 deficiency are reviewed. A new speculative "open" homology structure for the the active, membrane associated form is proposed. Review.
    Title: Protein 4.2: a complex linker.
  4. The interactions of three protein 4.2-derived recombinant proteins with CDB3 and ankyrin were investigated by using Far-Western blot and pull-down assay.
    Title: Associations of protein 4.2 with band 3 and ankyrin.
  5. Evidence protein 4.2 interacts with the Rh membrane complex member CD47 obtained from red cells of patients with hereditary spherocytosis associated with complete protein 4.2 deficiency
    Title: Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47.
  6. protein 4.2 strongly influences CD47 levels as well as the extent of membrane skeleton attachment in erythrocytes
    Title: Protein 4.2 is critical to CD47-membrane skeleton attachment in human red cells.
  7. spectrin binding domain
    Title: Mapping of a spectrin-binding domain of human erythrocyte membrane protein 4.2.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary spherocytosis type 5
MedGen: C2675192 OMIM: 612690 GeneReviews: EPB42-Related Hereditary Spherocytosis
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
nucleocapsid gag HIV-1 NC upregulates erythrocyte membrane protein band 4.2 (EPB42) in HEK 293T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC116735, MGC116737

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-glutamine gamma-glutamyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
involved_in erythrocyte maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in hemoglobin metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organismal-level iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in peptide cross-linking IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cell shape IEA
Inferred from Electronic Annotation
more info
  
involved_in spleen development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of ankyrin-1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cortical cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein 4.2
Names
P4.2
erythrocyte protein 4.2
erythrocyte surface protein band 4.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011505.2 RefSeqGene

    Range
    9839..33630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1171

mRNA and Protein(s)

  1. NM_000119.3 → NP_000110.2  protein 4.2 isoform 1

    See identical proteins and their annotated locations for NP_000110.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC096093, BU741892, DW451374, M60298
    Consensus CDS
    CCDS10093.1
    UniProtKB/TrEMBL
    B7Z4C3
    Related
    ENSP00000497777.1, ENST00000648595.1
    Conserved Domains (3) summary
    smart00460
    Location:291 → 382
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37 → 153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:618 → 716
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  2. NM_001114134.2 → NP_001107606.1  protein 4.2 isoform 2

    See identical proteins and their annotated locations for NP_001107606.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the 5' region, as compared to variant 1. The resulting isoform 2 lacks an internal segment in the N-terminal region, as compared to isoform 1.
    Source sequence(s)
    BC096094, BU741892, DW451374
    Consensus CDS
    CCDS45249.1
    UniProtKB/Swiss-Prot
    P16452, Q4KKX0, Q4VB97
    UniProtKB/TrEMBL
    B7Z4C3
    Related
    ENSP00000396616.2, ENST00000441366.7
    Conserved Domains (3) summary
    smart00460
    Location:261 → 352
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:4 → 124
    Transglut_N; Transglutaminase family
    pfam00927
    Location:588 → 686
    Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    43197227..43225737 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521351.3 → XP_011519653.1  protein 4.2 isoform X1

    See identical proteins and their annotated locations for XP_011519653.1

    UniProtKB/TrEMBL
    B7Z4C3
    Conserved Domains (3) summary
    smart00460
    Location:291 → 382
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37 → 153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:618 → 716
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  2. XM_011521350.3 → XP_011519652.1  protein 4.2 isoform X1

    See identical proteins and their annotated locations for XP_011519652.1

    UniProtKB/TrEMBL
    B7Z4C3
    Conserved Domains (3) summary
    smart00460
    Location:291 → 382
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37 → 153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:618 → 716
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  3. XM_005254225.2 → XP_005254282.1  protein 4.2 isoform X4

    UniProtKB/TrEMBL
    B7Z4C3
    Conserved Domains (3) summary
    smart00460
    Location:226 → 317
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:7 → 123
    Transglut_N; Transglutaminase family
    pfam00927
    Location:553 → 651
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  4. XM_011521352.3 → XP_011519654.1  protein 4.2 isoform X2

    UniProtKB/TrEMBL
    B7Z4C3
    Conserved Domains (3) summary
    smart00460
    Location:279 → 370
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37 → 153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:606 → 704
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  5. XM_011521353.3 → XP_011519655.1  protein 4.2 isoform X3

    UniProtKB/TrEMBL
    B7Z4C3
    Conserved Domains (3) summary
    smart00460
    Location:256 → 347
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37 → 153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:583 → 681
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  6. XM_011521354.2 → XP_011519656.1  protein 4.2 isoform X5

    UniProtKB/TrEMBL
    F5H563
    Conserved Domains (2) summary
    smart00460
    Location:106 → 197
    TGc; Transglutaminase/protease-like homologues
    pfam00927
    Location:433 → 531
    Transglut_C; Transglutaminase family, C-terminal ig like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    41004516..41033028 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377485.1 → XP_054233460.1  protein 4.2 isoform X1

  2. XM_054377484.1 → XP_054233459.1  protein 4.2 isoform X1

  3. XM_054377483.1 → XP_054233458.1  protein 4.2 isoform X1

  4. XM_054377488.1 → XP_054233463.1  protein 4.2 isoform X4

  5. XM_054377486.1 → XP_054233461.1  protein 4.2 isoform X2

  6. XM_054377487.1 → XP_054233462.1  protein 4.2 isoform X3

  7. XM_054377489.1 → XP_054233464.1  protein 4.2 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P16452.3 GenPept UniProtKB/Swiss-Prot:P16452

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