Details for: PEX2

Gene ID: 5828

Symbol: PEX2

Ensembl ID: ENSG00000164751

Description: peroxisomal biogenesis factor 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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 191.8092
    Cell Significance Index: -29.8400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 111.6922
    Cell Significance Index: -28.3300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 75.0338
    Cell Significance Index: -30.9100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 69.4735
    Cell Significance Index: -32.8000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 69.1434
    Cell Significance Index: -28.0900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 61.3159
    Cell Significance Index: -31.5400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 48.9477
    Cell Significance Index: -32.8500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 29.5577
    Cell Significance Index: -28.2200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.9661
    Cell Significance Index: -32.0200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.3400
    Cell Significance Index: -32.9100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.0125
    Cell Significance Index: -24.6100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.0034
    Cell Significance Index: -21.4400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.7474
    Cell Significance Index: -10.3900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.1024
    Cell Significance Index: 214.5500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.7037
    Cell Significance Index: 102.2800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2335
    Cell Significance Index: 16.8300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.1337
    Cell Significance Index: 23.7300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9883
    Cell Significance Index: 160.7400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.8324
    Cell Significance Index: 38.8100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8161
    Cell Significance Index: 100.3500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7596
    Cell Significance Index: 136.9300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7361
    Cell Significance Index: 38.2400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.6258
    Cell Significance Index: 17.0400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5779
    Cell Significance Index: 315.5800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5632
    Cell Significance Index: 111.7600
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.5449
    Cell Significance Index: 12.5900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5336
    Cell Significance Index: 235.9200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.5073
    Cell Significance Index: 14.9000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4711
    Cell Significance Index: 16.3700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4120
    Cell Significance Index: 56.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4036
    Cell Significance Index: 22.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3840
    Cell Significance Index: 24.2000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3712
    Cell Significance Index: 47.5900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.3569
    Cell Significance Index: 3.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3554
    Cell Significance Index: 7.7000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3404
    Cell Significance Index: 9.1200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3239
    Cell Significance Index: 24.1400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3030
    Cell Significance Index: 57.6600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2912
    Cell Significance Index: 34.3400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2820
    Cell Significance Index: 56.5600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2812
    Cell Significance Index: 19.8900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1951
    Cell Significance Index: 9.1700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1797
    Cell Significance Index: 64.4700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1257
    Cell Significance Index: 12.4300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1082
    Cell Significance Index: 1.2900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0684
    Cell Significance Index: 5.2500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0671
    Cell Significance Index: 4.3300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0559
    Cell Significance Index: 7.2300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0506
    Cell Significance Index: 1.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0482
    Cell Significance Index: 33.3100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0415
    Cell Significance Index: 1.8800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0216
    Cell Significance Index: 0.6900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0211
    Cell Significance Index: 39.6800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0153
    Cell Significance Index: 6.9700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0090
    Cell Significance Index: 0.2400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0069
    Cell Significance Index: 5.0700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0037
    Cell Significance Index: 2.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0005
    Cell Significance Index: 0.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0007
    Cell Significance Index: -0.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0047
    Cell Significance Index: -7.2300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0050
    Cell Significance Index: -0.8600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0072
    Cell Significance Index: -13.3500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0083
    Cell Significance Index: -11.3300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0245
    Cell Significance Index: -0.4100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0300
    Cell Significance Index: -22.1900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0347
    Cell Significance Index: -0.3200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0439
    Cell Significance Index: -4.4800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0511
    Cell Significance Index: -28.8300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0563
    Cell Significance Index: -8.1800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0582
    Cell Significance Index: -3.0300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0591
    Cell Significance Index: -36.9300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0671
    Cell Significance Index: -19.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0887
    Cell Significance Index: -10.3400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1034
    Cell Significance Index: -2.8900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1386
    Cell Significance Index: -4.8700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1409
    Cell Significance Index: -3.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1486
    Cell Significance Index: -7.8000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1505
    Cell Significance Index: -17.2400
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.1628
    Cell Significance Index: -1.7300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1639
    Cell Significance Index: -34.5300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1969
    Cell Significance Index: -5.0600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2523
    Cell Significance Index: -15.5100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2652
    Cell Significance Index: -21.0000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2721
    Cell Significance Index: -6.9500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2763
    Cell Significance Index: -2.8600
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2833
    Cell Significance Index: -2.3800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2888
    Cell Significance Index: -30.0700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2961
    Cell Significance Index: -14.9700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3205
    Cell Significance Index: -9.1900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3998
    Cell Significance Index: -26.8800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.4403
    Cell Significance Index: -3.5900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4471
    Cell Significance Index: -27.4100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4544
    Cell Significance Index: -12.1600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5067
    Cell Significance Index: -7.4800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5191
    Cell Significance Index: -22.9600
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.5431
    Cell Significance Index: -3.4000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5711
    Cell Significance Index: -16.8200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6066
    Cell Significance Index: -22.9700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6312
    Cell Significance Index: -5.0400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.6426
    Cell Significance Index: -15.6800

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:** 1. **Peroxisomal membrane protein:** PEX2 is a transmembrane protein localized to the peroxisomal membrane, where it interacts with other proteins to regulate the import of lipids and proteins into the peroxisomal matrix. 2. **Import and localization:** PEX2 facilitates the import of proteins and lipids into the peroxisomal matrix, ensuring the proper localization of enzymes and substrates within the organelle. 3. **Regulation of peroxisomal biogenesis:** PEX2 is involved in the regulation of peroxisomal biogenesis, working in conjunction with other proteins to ensure the proper formation and maturation of peroxisomes. 4. **Metabolic functions:** PEX2 is required for the proper functioning of peroxisomal metabolic pathways, including fatty acid beta-oxidation, amino acid metabolism, and very long-chain fatty acid metabolism. **Pathways and Functions:** 1. **Cytosol:** PEX2 interacts with the cytosolic protein PEX5 to facilitate the import of proteins and lipids into the peroxisomal matrix. 2. **Cellular response to reactive oxygen species:** PEX2 is involved in the regulation of cellular responses to reactive oxygen species, which can damage peroxisomal membranes and disrupt peroxisomal function. 3. **Fatty acid beta-oxidation:** PEX2 is required for the proper functioning of fatty acid beta-oxidation, a critical metabolic pathway involved in energy production. 4. **Peroxisomal organization:** PEX2 works with other proteins to regulate peroxisomal organization, ensuring the proper formation and maturation of peroxisomes. **Clinical Significance:** 1. **Peroxisomal biogenesis disorders:** Mutations in the PEX2 gene have been implicated in peroxisomal biogenesis disorders, which are characterized by impaired peroxisomal function and accumulation of toxic substances. 2. **Neurological disorders:** Dysregulation of PEX2 has been linked to neurological disorders, including epilepsy and ataxia, which may be related to impaired peroxisomal function and metabolic dysfunction. 3. **Cancer:** PEX2 may play a role in cancer development, as impaired peroxisomal function can lead to the accumulation of toxic substances and the promotion of tumorigenesis. 4. **Amino acid starvation:** PEX2 is involved in the regulation of amino acid metabolism, and dysregulation of this gene may contribute to the development of amino acid starvation-related disorders. In conclusion, PEX2 is a critical protein involved in the biogenesis and function of peroxisomes, and dysregulation of this gene has been implicated in various diseases. Further research is needed to fully understand the role of PEX2 in maintaining cellular homeostasis and to develop therapeutic strategies for the treatment of peroxisomal biogenesis disorders and other related diseases.

Genular Protein ID: 596823763

Symbol: PEX2_HUMAN

Name: Peroxisomal membrane protein 3

UniProtKB Accession Codes:

P28328 Q567S6 Q9BW41

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 7 Ensembl 3 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 6 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 4 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1546315

Title: A human gene responsible for Zellweger syndrome that affects peroxisome assembly.

PubMed ID: 1546315

DOI: 10.1126/science.1546315

PubMed ID: 10891359

Title: Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein.

PubMed ID: 10891359

DOI: 10.1006/bbrc.2000.3039

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 12751901

Title: The peroxisomal membrane targeting elements of human peroxin 2 (PEX2).

PubMed ID: 12751901

DOI: 10.1078/0171-9335-00310

PubMed ID: 1426230

Title: Ring finger in the peroxisome assembly factor-1.

PubMed ID: 1426230

DOI: 10.1016/0014-5793(92)81397-5

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 24662292

Title: Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import.

PubMed ID: 24662292

DOI: 10.1074/jbc.m113.527937

PubMed ID: 27597759

Title: PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation.

PubMed ID: 27597759

DOI: 10.1083/jcb.201511034

PubMed ID: 34903883

Title: Peroxisomal beta-oxidation acts as a sensor for intracellular fatty acids and regulates lipolysis.

PubMed ID: 34903883

DOI: 10.1038/s42255-021-00489-2

PubMed ID: 10528859

Title: Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.

PubMed ID: 10528859

DOI: 10.1136/jmg.36.10.779

PubMed ID: 14630978

Title: Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

PubMed ID: 14630978

DOI: 10.1203/01.pdr.0000106862.83469.8d

PubMed ID: 17041890

Title: Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

PubMed ID: 17041890

DOI: 10.1002/humu.9462

PubMed ID: 21392394

Title: Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.

PubMed ID: 21392394

DOI: 10.1186/1750-1172-6-8

PubMed ID: 23430938

Title: Zellweger spectrum disorder with mild phenotype caused by PEX2 gene mutations.

PubMed ID: 23430938

DOI: 10.1007/8904_2011_102

Sequence Information:

  • Length: 305
  • Mass: 34843
  • Checksum: F624F93C613FF2DB
  • Sequence:
    • MASRKENAKS ANRVLRISQL DALELNKALE QLVWSQFTQC FHGFKPGLLA RFEPEVKACL 
WVFLWRFTIY SKNATVGQSV LNIKYKNDFS PNLRYQPPSK NQKIWYAVCT IGGRWLEERC 
YDLFRNHHLA SFGKVKQCVN FVIGLLKLGG LINFLIFLQR GKFATLTERL LGIHSVFCKP 
QNICEVGFEY MNRELLWHGF AEFLIFLLPL INVQKLKAKL SSWCIPLTGA PNSDNTLATS 
GKECALCGEW PTMPHTIGCE HIFCYFCAKS SFLFDVYFTC PKCGTEVHSL QPLKSGIEMS 
EVNAL

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.