EPB42 (erythrocyte membrane protein band 4.2)

2014-11-01  

Identity

HGNC
EPB42
LOCATION
15q15.2
LOCUSID
2038
ALIAS
PA,SPH5

Other Information

Locus ID:

NCBI: 2038
MIM: 177070
HGNC: 3381
Ensembl: ENSG00000166947

Variants:

dbSNP: 2038
ClinVar: 2038
TCGA: ENSG00000166947
COSMIC: EPB42

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166947ENST00000441366P16452
ENSG00000166947ENST00000540029F5H563
ENSG00000166947ENST00000565459H3BUR1
ENSG00000166947ENST00000569204H3BPV8
ENSG00000166947ENST00000622454P16452
ENSG00000166947ENST00000648595P16452

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
123934672003Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47.32
192692002009Protein 4.2: a complex linker.17
145511462004Protein 4.2 is critical to CD47-membrane skeleton attachment in human red cells.14
200079692010Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner.7
120496492002Mapping of a spectrin-binding domain of human erythrocyte membrane protein 4.2.6
167183732006Associations of protein 4.2 with band 3 and ankyrin.6
210393402011Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1.6

Citation

Dessen P

EPB42 (erythrocyte membrane protein band 4.2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62858/epb42-(erythrocyte-membrane-protein-band-4-2)