EPB42

GENERAL INFORMATION

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Gene name

EPB42

Gene description

Erythrocyte membrane protein band 4.2

Protein class

Cytoskeleton related proteins
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (bone marrow)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Positivity in erythrocytes.

ANTIBODY RELIABILITY

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Data reliability
description

Presumed off target binding observed and disregarded. Tissue location of RNA and protein differs and correlation is complex.

Data reliability

Supportive based on 1 antibody.
HPA040261
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (bone marrow)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

EPB42 (HGNC Symbol)

Synonyms

MGC116735, MGC116737, PA

Description

Erythrocyte membrane protein band 4.2 (HGNC Symbol)

Entrez gene 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]

Chromosome

15

Cytoband

q15.2

Chromosome location (bp)

43106225 - 43221283

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000166947 (version 78.38)

Entrez gene

2038

UniProt

P16452 (UniProt - Evidence at protein level)

neXtProt

NX_P16452

Antibodypedia

EPB42 antibodies


PROTEIN BROWSER

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ENST00000300215
 
ENST00000441366
 
ENST00000540029
 
ENST00000565459
 
ENST00000568508
 
ENST00000569204
 
ENST00000622454
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EPB42-001 ENSP00000300215
ENST00000300215
P16452
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Show » Show » 721 79.9 No 0
EPB42-003 ENSP00000396616
ENST00000441366
P16452
Show all »
Show » Show » 691 77 No 0
EPB42-004 ENSP00000444699
ENST00000540029
F5H563
Show all »
Show » Show » 613 68.2 No 0
EPB42-005 ENSP00000455489
ENST00000569204
H3BPV8
Show all »
Show » Show » 191 21.6 No 0
EPB42-006 ENSP00000457757
ENST00000565459
Show » Show » 147 16.3 No 0
EPB42-008 ENSP00000457140
ENST00000568508
H3BTE6
Show all »
Show » Show » 543 59.8 No 0
EPB42-201 ENSP00000481226
ENST00000622454
P16452
Show all »
Show » Show » 619 69.5 No 0