Epb42 erythrocyte membrane protein band 4.2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Epb42provided by MGI
Official Full Name: erythrocyte membrane protein band 4.2provided by MGI
Primary source: MGI:MGI:95402
See related: Ensembl:ENSMUSG00000023216 AllianceGenome:MGI:95402
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Epb4.2
Summary: The protein encoded by this gene is the key component of a macromolecular complex involved in the structure of erythrocytes. [provided by RefSeq, Aug 2015]
Expression: Biased expression in liver E14.5 (RPKM 57.9), liver E14 (RPKM 55.2) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 60.37 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (120848372..120867358, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (121017891..121036877, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that a nuclear complex containing TAL1 and LIM domain-binding protein Ldb1 transactivates the protein 4.2 (P4.2) gene
Title: Identification of a TAL1 target gene reveals a positive role for the LIM domain-binding protein Ldb1 in erythroid gene expression and differentiation.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC207591P1 (e-PCR)
- UniSTS:271969

Epb4.2 (e-PCR), detects polymorphism
- UniSTS:142995

Epb4.2 (e-PCR), detects polymorphism
- UniSTS:233955

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein-glutamine gamma-glutamyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-glutamine gamma-glutamyltransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in erythrocyte maturation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within hemoglobin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spleen development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of ankyrin-1 complex	ISO Inferred from Sequence Orthology more info
part_of ankyrin-1 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cortical cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay 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 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.

mRNA and Protein(s)

NM_013513.3 → NP_038541.1 protein 4.2

See identical proteins and their annotated locations for NP_038541.1

Status: REVIEWED

Source sequence(s)

AK133896, AK143841, BY230962

Consensus CDS

CCDS16631.1

UniProtKB/Swiss-Prot

P49222, Q3UP33

UniProtKB/TrEMBL

Q6NXZ8

Related

ENSMUSP00000099548.4, ENSMUST00000102490.10

Conserved Domains (3) summary

smart00460
Location:261 → 351

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:6 → 123

Transglut_N; Transglutaminase family

pfam00927
Location:588 → 686

Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

120848372..120867358 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498727.3 → XP_006498790.1 protein 4.2 isoform X1

UniProtKB/TrEMBL

Q6NXZ8

Conserved Domains (3) summary

smart00460
Location:261 → 351

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:5 → 124

Transglut_N; Transglutaminase family

pfam00927
Location:588 → 685

Transglut_C; Transglutaminase family, C-terminal ig like domain