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

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; 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: mouse all
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Genomic context

Location:: 15q15.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (43197227..43225737, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (41004516..41033028, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (43489425..43513216, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
spectrin binding domain
Title: Mapping of a spectrin-binding domain of human erythrocyte membrane protein 4.2.

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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)

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

WI-16760 (e-PCR)
- UniSTS:80909

RH17526 (e-PCR)
- UniSTS:70727

RH45576 (e-PCR)
- UniSTS:1120

RH79589 (e-PCR)
- UniSTS:84852

RH102596 (e-PCR)
- UniSTS:96930

NoName (e-PCR)
- UniSTS:483784

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 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

NG_011505.2 RefSeqGene

Range

9839..33630

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1171

mRNA and Protein(s)

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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

43197227..43225737 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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