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

Gene ID: 2038, updated on 23-Nov-2021

Summary

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
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

See EPB42 in Genome Data Viewer
Location:
15q15.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (43197227..43225856, complement)
105.20201022 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 cyclin D1 binding protein 1 Neighboring gene transglutaminase 5 Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Related articles in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in peptide cross-linking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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

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_000119.3NP_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/Swiss-Prot
    P16452
    Related
    ENSP00000497777.1, ENST00000648595.1
    Conserved Domains (3) summary
    smart00460
    Location:291382
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:618716
    Transglut_C; Transglutaminase family, C-terminal ig like domain
  2. NM_001114134.2NP_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
    Related
    ENSP00000396616.2, ENST00000441366.7
    Conserved Domains (3) summary
    smart00460
    Location:261352
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:4124
    Transglut_N; Transglutaminase family
    pfam00927
    Location:588686
    Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    43197227..43225856 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521351.2XP_011519653.1  protein 4.2 isoform X1

    See identical proteins and their annotated locations for XP_011519653.1

    UniProtKB/Swiss-Prot
    P16452
    Conserved Domains (3) summary
    smart00460
    Location:291382
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:618716
    Transglut_C; Transglutaminase family, C-terminal ig like domain
  2. XM_011521350.2XP_011519652.1  protein 4.2 isoform X1

    See identical proteins and their annotated locations for XP_011519652.1

    UniProtKB/Swiss-Prot
    P16452
    Conserved Domains (3) summary
    smart00460
    Location:291382
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:618716
    Transglut_C; Transglutaminase family, C-terminal ig like domain
  3. XM_011521349.2XP_011519651.1  protein 4.2 isoform X1

    See identical proteins and their annotated locations for XP_011519651.1

    UniProtKB/Swiss-Prot
    P16452
    Conserved Domains (3) summary
    smart00460
    Location:291382
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:618716
    Transglut_C; Transglutaminase family, C-terminal ig like domain
  4. XM_011521352.2XP_011519654.1  protein 4.2 isoform X2

    Conserved Domains (3) summary
    smart00460
    Location:279370
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:606704
    Transglut_C; Transglutaminase family, C-terminal ig like domain
  5. XM_011521353.2XP_011519655.1  protein 4.2 isoform X3

    Conserved Domains (3) summary
    smart00460
    Location:256347
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:37153
    Transglut_N; Transglutaminase family
    pfam00927
    Location:583681
    Transglut_C; Transglutaminase family, C-terminal ig like domain
  6. XM_005254225.1XP_005254282.1  protein 4.2 isoform X4

    Conserved Domains (3) summary
    smart00460
    Location:226317
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:7123
    Transglut_N; Transglutaminase family
    pfam00927
    Location:553651
    Transglut_C; Transglutaminase family, C-terminal ig like domain
  7. XM_011521354.2XP_011519656.1  protein 4.2 isoform X5

    Conserved Domains (2) summary
    smart00460
    Location:106197
    TGc; Transglutaminase/protease-like homologues
    pfam00927
    Location:433531
    Transglut_C; Transglutaminase family, C-terminal ig like domain
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