Details for: EPB42

Gene ID: 2038

Symbol: EPB42

Ensembl ID: ENSG00000166947

Description: erythrocyte membrane protein band 4.2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 2.7
    Marker Score: 1572
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.79
    Marker Score: 626
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.46
    Marker Score: 462.5
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.41
    Marker Score: 1222
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.37
    Marker Score: 4724
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.33
    Marker Score: 925
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.28
    Marker Score: 633
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.26
    Marker Score: 1281
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.23
    Marker Score: 1090.5
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.15
    Marker Score: 415
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.15
    Marker Score: 1665
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.14
    Marker Score: 749
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.12
    Marker Score: 757
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.11
    Marker Score: 281.5
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.08
    Marker Score: 587
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 1.05
    Marker Score: 585
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.03
    Marker Score: 680
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1
    Marker Score: 773
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1
    Marker Score: 1893
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71806
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48031
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.95
    Marker Score: 14789
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.93
    Marker Score: 291
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5286
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.91
    Marker Score: 330
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.91
    Marker Score: 292
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5287
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.86
    Marker Score: 654
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.84
    Marker Score: 979
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.82
    Marker Score: 293
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 693
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.76
    Marker Score: 934
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.75
    Marker Score: 1953
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.74
    Marker Score: 7605
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.74
    Marker Score: 459
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.73
    Marker Score: 1729
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.73
    Marker Score: 696
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.7
    Marker Score: 346.5
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.69
    Marker Score: 326
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.69
    Marker Score: 313
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.68
    Marker Score: 971
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.66
    Marker Score: 853
  • Cell Name: enucleated reticulocyte (CL0002422)
    Fold Change: 0.66
    Marker Score: 245
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.65
    Marker Score: 276
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.63
    Marker Score: 331
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.62
    Marker Score: 15930
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.62
    Marker Score: 161
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.61
    Marker Score: 382
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.61
    Marker Score: 157
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.6
    Marker Score: 1172.5
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.59
    Marker Score: 734
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.59
    Marker Score: 444
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.59
    Marker Score: 469
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.55
    Marker Score: 307
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.55
    Marker Score: 1120
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.55
    Marker Score: 608
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.54
    Marker Score: 362
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.54
    Marker Score: 1762
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.53
    Marker Score: 319
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.52
    Marker Score: 194
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.52
    Marker Score: 360
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.52
    Marker Score: 1304
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.52
    Marker Score: 672
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.52
    Marker Score: 8350
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.52
    Marker Score: 190
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.51
    Marker Score: 294
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.49
    Marker Score: 555
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.49
    Marker Score: 840
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.48
    Marker Score: 500
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.48
    Marker Score: 633
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.47
    Marker Score: 1964
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.46
    Marker Score: 306
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.46
    Marker Score: 869
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.45
    Marker Score: 127
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.44
    Marker Score: 3334.5
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.44
    Marker Score: 192
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 0.44
    Marker Score: 242
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.44
    Marker Score: 2350
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 0.43
    Marker Score: 1041
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.42
    Marker Score: 14196
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.42
    Marker Score: 175
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.4
    Marker Score: 1345
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.4
    Marker Score: 233
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.39
    Marker Score: 226
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.38
    Marker Score: 884
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.38
    Marker Score: 100
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.38
    Marker Score: 180
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.37
    Marker Score: 148
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.37
    Marker Score: 996
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.36
    Marker Score: 1506
  • Cell Name: enucleate erythrocyte (CL0000595)
    Fold Change: 0.36
    Marker Score: 140.5
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 0.35
    Marker Score: 149.5
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.33
    Marker Score: 115
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.32
    Marker Score: 103

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Other Information

## Summary EPB42 is a transmembrane protein that is expressed in a variety of cell types, including endothelial cells, epithelial cells, and immune cells. It is involved in a number of important cellular processes, including cell morphogenesis, blood cell development, and immune responses. ## Key characteristics * EPB42 is a glycoprotein with a molecular weight of approximately 120 kDa. * It is a transmembrane protein that is expressed in the plasma membrane. * It is involved in the regulation of cell shape and cell migration. * It is also involved in the development of the spleen. * It is a key protein for erythroblast differentiation and maturation. * It is involved in the regulation of blood cell production. ## Pathways and functions * EPB42 is involved in the regulation of cell shape and cell migration. It is a key regulator of the process of erythrocyte maturation, which is the process by which blood cells are formed from stem cells in the bone marrow. * It is also involved in the regulation of blood cell production. EPB42 is expressed in the developing embryo and is essential for the formation of the blood system. * It is also involved in the regulation of inflammation. * It is a key protein for erythroblast differentiation and maturation. ## Clinical significance Mutations in EPB42 have been linked to a number of human diseases, including: * Polycythemia vera: A blood disorder characterized by the production of too many red blood cells. * Renal failure: A condition in which the kidneys fail to filter waste products from the blood. * Atherosclerosis: A condition in which plaque builds up in the arteries, leading to heart disease and stroke. * Cancer: EPB42 is a target for some cancer drugs. EPB42 is a versatile protein that plays a key role in a variety of cellular processes. Its clinical significance makes it an important target for research into human diseases.

Genular Protein ID: 3463095345

Symbol: EPB42_HUMAN

Name: N/A

UniProtKB Accession Codes:

P16452 Q4KKX0 Q4VB97

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 21 EMDB 14 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 21 PDBsum 13 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 5 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2052563

Title: Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the a subunit of factor XIII.

PubMed ID: 2052563

DOI: 10.1073/pnas.88.11.4840

PubMed ID: 2300550

Title: Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2.

PubMed ID: 2300550

DOI: 10.1073/pnas.87.2.613

PubMed ID: 1689063

Title: Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane.

PubMed ID: 1689063

DOI: 10.1073/pnas.87.3.955

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1544941

Title: Human erythrocyte protein 4.2, a high copy number membrane protein, is N-myristylated.

PubMed ID: 1544941

DOI: 10.1016/s0021-9258(18)42820-7

PubMed ID: 8499466

Title: Structural domain mapping and phosphorylation of human erythrocyte pallidin (band 4.2).

PubMed ID: 8499466

DOI: 10.1016/0005-2736(93)90156-t

PubMed ID: 35835865

Title: Architecture of the human erythrocyte ankyrin-1 complex.

PubMed ID: 35835865

DOI: 10.1038/s41594-022-00792-w

PubMed ID: 1558976

Title: An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2 Nippon).

PubMed ID: 1558976

PubMed ID: 7819064

Title: A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka).

PubMed ID: 7819064

DOI: 10.1111/j.1365-2141.1994.tb05069.x

PubMed ID: 7772513

Title: A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.

PubMed ID: 7772513

DOI: 10.1111/j.1365-2141.1995.tb08413.x

PubMed ID: 8547071

Title: Band 4.2 Shiga: 317 CGC-->TGC in compound heterozygotes with 142 GCT-->ACT results in band 4.2 deficiency and microspherocytosis.

PubMed ID: 8547071

DOI: 10.1111/j.1365-2141.1995.tb05299.x

PubMed ID: 8547605

Title: Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network.

PubMed ID: 8547605

DOI: 10.1016/0925-5710(95)00372-y

PubMed ID: 10406914

Title: 4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis.

PubMed ID: 10406914

Sequence Information:

  • Length: 691
  • Mass: 77009
  • Checksum: 38225C311E478580
  • Sequence:
    • MGQALGIKSC DFQAARNNEE HHTKALSSRR LFVRRGQPFT IILYFRAPVR AFLPALKKVA 
LTAQTGEQPS KINRTQATFP ISSLGDRKWW SAVVEERDAQ SWTISVTTPA DAVIGHYSLL 
LQVSGRKQLL LGQFTLLFNP WNREDAVFLK NEAQRMEYLL NQNGLIYLGT ADCIQAESWD 
FGQFEGDVID LSLRLLSKDK QVEKWSQPVH VARVLGALLH FLKEQRVLPT PQTQATQEGA 
LLNKRRGSVP ILRQWLTGRG RPVYDGQAWV LAAVACTVLR CLGIPARVVT TFASAQGTGG 
RLLIDEYYNE EGLQNGEGQR GRIWIFQTST ECWMTRPALP QGYDGWQILH PSAPNGGGVL 
GSCDLVPVRA VKEGTLGLTP AVSDLFAAIN ASCVVWKCCE DGTLELTDSN TKYVGNNIST 
KGVGSDRCED ITQNYKYPEG SLQEKEVLER VEKEKMEREK DNGIRPPSLE TASPLYLLLK 
APSSLPLRGD AQISVTLVNH SEQEKAVQLA IGVQAVHYNG VLAAKLWRKK LHLTLSANLE 
KIITIGLFFS NFERNPPENT FLRLTAMATH SESNLSCFAQ EDIAICRPHL AIKMPEKAEQ 
YQPLTASVSL QNSLDAPMED CVISILGRGL IHRERSYRFR SVWPENTMCA KFQFTPTHVG 
LQRLTVEVDC NMFQNLTNYK SVTVVAPELS A

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.