Details for: EPB42

Gene ID: 2038

Symbol: EPB42

Ensembl ID: ENSG00000166947

Description: erythrocyte membrane protein band 4.2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 32.5204
    Cell Significance Index: 14.8100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 18.5694
    Cell Significance Index: -4.7100
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 9.8802
    Cell Significance Index: 141.5900
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 6.4316
    Cell Significance Index: 14.5000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.2780
    Cell Significance Index: -13.7400
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 5.7418
    Cell Significance Index: 59.4200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 4.1739
    Cell Significance Index: -3.9900
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 3.9711
    Cell Significance Index: 24.5000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 3.6829
    Cell Significance Index: 63.1200
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 3.1115
    Cell Significance Index: 27.6200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.5653
    Cell Significance Index: 30.5500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 1.2646
    Cell Significance Index: -4.9900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.1733
    Cell Significance Index: 28.4200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.9379
    Cell Significance Index: 15.7800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.7150
    Cell Significance Index: 15.6600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4974
    Cell Significance Index: 12.7900
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.3897
    Cell Significance Index: 4.5100
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.3631
    Cell Significance Index: 6.2600
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.3611
    Cell Significance Index: 1.3600
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.3087
    Cell Significance Index: 3.5000
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 0.2734
    Cell Significance Index: 1.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2093
    Cell Significance Index: 35.7400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1771
    Cell Significance Index: 1.2000
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.1545
    Cell Significance Index: 1.4300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1426
    Cell Significance Index: 3.8200
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.1085
    Cell Significance Index: 1.1700
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.1080
    Cell Significance Index: 1.2300
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.1045
    Cell Significance Index: 1.3200
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.0969
    Cell Significance Index: 0.5100
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.0879
    Cell Significance Index: 1.2400
  • Cell Name: enucleate erythrocyte (CL0000595)
    Fold Change: 0.0483
    Cell Significance Index: 0.2500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0453
    Cell Significance Index: 0.5400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0157
    Cell Significance Index: 2.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0022
    Cell Significance Index: 1.2100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0011
    Cell Significance Index: -0.3300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0025
    Cell Significance Index: -4.7800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0029
    Cell Significance Index: -5.4200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0034
    Cell Significance Index: -5.2100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0039
    Cell Significance Index: -5.2800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0049
    Cell Significance Index: -3.7000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0056
    Cell Significance Index: -0.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0057
    Cell Significance Index: -3.6200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0058
    Cell Significance Index: -4.2900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0063
    Cell Significance Index: -0.0900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0077
    Cell Significance Index: -4.8200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0078
    Cell Significance Index: -4.3800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0091
    Cell Significance Index: -4.1500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0106
    Cell Significance Index: -3.8100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0112
    Cell Significance Index: -0.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0125
    Cell Significance Index: -2.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0142
    Cell Significance Index: -2.8100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0219
    Cell Significance Index: -4.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0247
    Cell Significance Index: -3.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0249
    Cell Significance Index: -2.5400
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -0.0252
    Cell Significance Index: -0.2800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0259
    Cell Significance Index: -3.1900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0277
    Cell Significance Index: -3.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0283
    Cell Significance Index: -3.8900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0349
    Cell Significance Index: -4.0000
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: -0.0476
    Cell Significance Index: -0.5400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0489
    Cell Significance Index: -5.0900
  • Cell Name: interneuron (CL0000099)
    Fold Change: -0.0514
    Cell Significance Index: -0.6000
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: -0.0596
    Cell Significance Index: -0.2900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0617
    Cell Significance Index: -4.7400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0644
    Cell Significance Index: -3.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0648
    Cell Significance Index: -4.3600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0711
    Cell Significance Index: -4.3600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0726
    Cell Significance Index: -3.4100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0740
    Cell Significance Index: -2.5700
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0755
    Cell Significance Index: -1.1000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0783
    Cell Significance Index: -4.8100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0840
    Cell Significance Index: -2.1400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0902
    Cell Significance Index: -2.3100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0943
    Cell Significance Index: -5.2900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0991
    Cell Significance Index: -1.6700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1015
    Cell Significance Index: -5.2800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1037
    Cell Significance Index: -1.5300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1049
    Cell Significance Index: -4.8900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1080
    Cell Significance Index: -2.8900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1116
    Cell Significance Index: -3.9100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1131
    Cell Significance Index: -3.0200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1147
    Cell Significance Index: -4.2100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1151
    Cell Significance Index: -5.0900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1239
    Cell Significance Index: -3.6500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1248
    Cell Significance Index: -4.0900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1250
    Cell Significance Index: -3.9800
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1262
    Cell Significance Index: -1.5300
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1272
    Cell Significance Index: -1.0500
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.1300
    Cell Significance Index: -1.5500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1342
    Cell Significance Index: -3.9400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1349
    Cell Significance Index: -5.1100
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.1358
    Cell Significance Index: -1.8100
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.1359
    Cell Significance Index: -1.7500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1361
    Cell Significance Index: -3.9000
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: -0.1441
    Cell Significance Index: -1.6000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1451
    Cell Significance Index: -4.5900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1571
    Cell Significance Index: -4.1300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1618
    Cell Significance Index: -4.0400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1618
    Cell Significance Index: -1.6800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1619
    Cell Significance Index: -4.6200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** EPB42 is a 78-kDa cytoskeletal protein that is specifically expressed in erythrocytes, as well as in other cell types such as luminal cells of prostate epithelium, ependymal cells, and astrocytes. Its unique structure, consisting of three tandem repeats of the β-2 integrin domain, allows it to interact with multiple partners, including ankyrin-1, spectrin, and band 3. This complex network of interactions enables EPB42 to regulate the organization and dynamics of the erythrocyte cytoskeleton, ensuring proper cell shape and function. **Pathways and Functions:** EPB42's involvement in various cellular processes can be attributed to its interactions with multiple partners and its role in regulating the erythrocyte cytoskeleton. Some of the key pathways and functions of EPB42 include: 1. **Ankyrin-1 complex formation**: EPB42 interacts with ankyrin-1 to form a complex that regulates the organization and dynamics of the erythrocyte cytoskeleton. 2. **Cytoskeleton organization**: EPB42's interactions with spectrin and band 3 help to regulate the organization and dynamics of the erythrocyte cytoskeleton, ensuring proper cell shape and function. 3. **Cell morphogenesis**: EPB42's role in regulating the erythrocyte cytoskeleton is essential for proper cell shape and morphogenesis. 4. **Iron ion homeostasis**: EPB42 is implicated in the regulation of iron ion homeostasis, particularly in erythrocytes. 5. **Protein binding**: EPB42's unique structure allows it to interact with multiple partners, including proteins involved in protein-glutamine gamma-glutamyltransferase activity. **Clinical Significance:** Dysregulation of EPB42 has been implicated in various diseases, including: 1. **Erythrocyte disorders**: Mutations in EPB42 have been associated with erythrocyte disorders, such as hereditary spherocytosis. 2. **Anemia**: EPB42 dysfunction has been linked to anemia, particularly in cases of iron deficiency anemia. 3. **Neurological disorders**: EPB42's role in regulating the erythrocyte cytoskeleton and iron ion homeostasis has been implicated in neurological disorders, such as Parkinson's disease and multiple sclerosis. In conclusion, EPB42 is a multifunctional protein that plays a crucial role in maintaining erythrocyte integrity and cellular homeostasis. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms underlying EPB42's functions and its potential as a therapeutic target.

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 13 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 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 13 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.