EPB41 (erythrocyte membrane protein band 4.1)

2007-02-01  

Identity

HGNC
EPB41
LOCATION
1p35.3
LOCUSID
2035
ALIAS
4.1R,EL1,HE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2035
MIM: 130500
HGNC: 3377
Ensembl: ENSG00000159023

Variants:

dbSNP: 2035
ClinVar: 2035
TCGA: ENSG00000159023
COSMIC: EPB41

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159023ENST00000343067P11171
ENSG00000159023ENST00000347529P11171
ENSG00000159023ENST00000349460A0A2U3TZH6
ENSG00000159023ENST00000356093Q4VB86
ENSG00000159023ENST00000373797P11171
ENSG00000159023ENST00000373798P11171
ENSG00000159023ENST00000373800P11171
ENSG00000159023ENST00000636666A0A1B0GWG0
ENSG00000159023ENST00000642260P11171
ENSG00000159023ENST00000642643A0A2R8Y6T6
ENSG00000159023ENST00000642937A0A2R8YD30
ENSG00000159023ENST00000643155A0A2R8YFU8
ENSG00000159023ENST00000643173A0A2R8Y570
ENSG00000159023ENST00000643604A0A2R8Y5G2
ENSG00000159023ENST00000644342A0A2R8Y6D0
ENSG00000159023ENST00000644470A0A2R8Y5C8
ENSG00000159023ENST00000644600A0A2R8Y5Z6
ENSG00000159023ENST00000644780A0A2R8YCW8
ENSG00000159023ENST00000644848A0A2R8Y4N6
ENSG00000159023ENST00000645184A0A2R8Y6G5
ENSG00000159023ENST00000646189A0A2R8Y7N0
ENSG00000159023ENST00000646260A0A2R8YFR9
ENSG00000159023ENST00000646800A0A2R8Y420
ENSG00000159023ENST00000646871A0A2R8Y783
ENSG00000159023ENST00000647103A0A2R8Y7Y3
ENSG00000159023ENST00000648181A0A3B3IUD6
ENSG00000159023ENST00000648891A0A3B3ITC5
ENSG00000159023ENST00000649717A0A3B3ITP0
ENSG00000159023ENST00000650265A0A3B3IU06

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid 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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445876Tobacco Use DisorderDiseaseClinicalAnnotationassociatedPD
PA448687bupropionChemicalClinicalAnnotationassociatedPD
PA450626nicotineChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
332425592021EPB41 suppresses the Wnt/β-catenin signaling in non-small cell lung cancer by sponging ALDOC.16
339429362021Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.1
332425592021EPB41 suppresses the Wnt/β-catenin signaling in non-small cell lung cancer by sponging ALDOC.16
339429362021Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.1
317761892020Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia.2
319507972020[Identification of a Novel Mutation of EPB41 Gene in a Family Affected with Hereditary Elliptocytosis].0
317761892020Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia.2
319507972020[Identification of a Novel Mutation of EPB41 Gene in a Family Affected with Hereditary Elliptocytosis].0
302276902018Lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon.3
302276902018Lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon.3
279818952017Alternative polyadenylation in a family of paralogous EPB41 genes generates protein 4.1 diversity.5
285704022017Genetic Factors Involved in Mandibular Prognathism.17
279818952017Alternative polyadenylation in a family of paralogous EPB41 genes generates protein 4.1 diversity.5
285704022017Genetic Factors Involved in Mandibular Prognathism.17
274535752016Integrative Functional Genomics Implicates EPB41 Dysregulation in Hepatocellular Carcinoma Risk.18

Citation

Dessen P

EPB41 (erythrocyte membrane protein band 4.1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46379/epb41-(erythrocyte-membrane-protein-band-4-1)