Tissue expression of EPB42 - Summary - The Human Protein Atlas

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EPB42

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	EPB42
Gene description	Erythrocyte membrane protein band 4.2
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (bone marrow)
GTEx:	Mixed
FANTOM5:	Tissue enhanced (placenta, adipose tissue)

Protein evidence

Evidence at protein level

Protein expression

Positivity in erythrocytes.

DATA RELIABILITY
Data reliability description	Presumed off target binding observed and disregarded. Tissue location of RNA and protein differs and correlation is complex.
Reliability score	Supported based on 1 antibody. HPA040261
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

N/A

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (bone marrow)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (placenta, adipose tissue)

GENE INFORMATION
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 83.38)
Entrez gene	2038
UniProt	P16452 (UniProt - Evidence at protein level)
neXtProt	NX_P16452
Antibodypedia	EPB42 antibodies

PROTEIN BROWSER

EPB42-001	EPB42-003	EPB42-004	EPB42-005	EPB42-006	EPB42-008	EPB42-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
EPB42-001 ENSP00000300215 ENST00000300215	P16452 [Direct mapping] Erythrocyte membrane protein band 4.2 Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000902 [cell morphogenesis] GO:0003810 [protein-glutamine gamma-glutamyltransferase activity] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008360 [regulation of cell shape] GO:0016020 [membrane] GO:0018149 [peptide cross-linking] GO:0020027 [hemoglobin metabolic process] GO:0030863 [cortical cytoskeleton] GO:0043249 [erythrocyte maturation] GO:0048536 [spleen development] GO:0050801 [ion homeostasis] GO:0055072 [iron ion homeostasis] Show all	721 aa 79.9 kDa	No	0
EPB42-003 ENSP00000396616 ENST00000441366	P16452 [Direct mapping] Erythrocyte membrane protein band 4.2 Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003810 [protein-glutamine gamma-glutamyltransferase activity] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008360 [regulation of cell shape] GO:0018149 [peptide cross-linking] GO:0043249 [erythrocyte maturation] Show all	691 aa 77 kDa	No	0
EPB42-004 ENSP00000444699 ENST00000540029	F5H563 [Direct mapping] Erythrocyte membrane protein band 4.2 Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003810 [protein-glutamine gamma-glutamyltransferase activity] GO:0018149 [peptide cross-linking] Show all	613 aa 68.2 kDa	No	0
EPB42-005 ENSP00000455489 ENST00000569204	H3BPV8 [Direct mapping] Erythrocyte membrane protein band 4.2 Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0018149 [peptide cross-linking] Show all	191 aa 21.6 kDa	No	0
EPB42-006 ENSP00000457757 ENST00000565459	H3BUR1 [Direct mapping] Erythrocyte membrane protein band 4.2 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003810 [protein-glutamine gamma-glutamyltransferase activity] GO:0018149 [peptide cross-linking] Show all	147 aa 16.3 kDa	No	0
EPB42-008 ENSP00000457140 ENST00000568508	H3BTE6 [Direct mapping] Erythrocyte membrane protein band 4.2 Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003810 [protein-glutamine gamma-glutamyltransferase activity] GO:0018149 [peptide cross-linking] Show all	543 aa 59.8 kDa	No	0
EPB42-201 ENSP00000481226 ENST00000622454	P16452 [Direct mapping] Erythrocyte membrane protein band 4.2 Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003810 [protein-glutamine gamma-glutamyltransferase activity] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0008360 [regulation of cell shape] GO:0018149 [peptide cross-linking] GO:0043249 [erythrocyte maturation] Show all	619 aa 69.5 kDa	No	0

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The Human Protein Atlas

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