Details for: PMP2

Gene ID: 5375

Symbol: PMP2

Ensembl ID: ENSG00000147588

Description: peripheral myelin protein 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: hippocampal astrocyte (CL0002604)
    Fold Change: 1.7463
    Cell Significance Index: 24.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.3651
    Cell Significance Index: 76.9000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2826
    Cell Significance Index: 17.3700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.2604
    Cell Significance Index: 354.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.1852
    Cell Significance Index: 137.2200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.1338
    Cell Significance Index: 3.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0809
    Cell Significance Index: 124.5000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0522
    Cell Significance Index: 32.5900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0077
    Cell Significance Index: 14.1200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0002
    Cell Significance Index: -0.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0076
    Cell Significance Index: -14.2400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0094
    Cell Significance Index: -1.6100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0203
    Cell Significance Index: -12.8900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0240
    Cell Significance Index: -8.6000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0260
    Cell Significance Index: -7.4900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0265
    Cell Significance Index: -14.4900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0308
    Cell Significance Index: -13.9900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0391
    Cell Significance Index: -7.0500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0496
    Cell Significance Index: -9.9400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0503
    Cell Significance Index: -0.8700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0591
    Cell Significance Index: -11.7200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0854
    Cell Significance Index: -12.4100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0854
    Cell Significance Index: -9.7500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1013
    Cell Significance Index: -12.4500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1132
    Cell Significance Index: -15.5400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1151
    Cell Significance Index: -14.7500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1199
    Cell Significance Index: -12.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1252
    Cell Significance Index: -14.3400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1393
    Cell Significance Index: -14.5000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1468
    Cell Significance Index: -9.8700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1997
    Cell Significance Index: -4.7900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2024
    Cell Significance Index: -10.6300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2040
    Cell Significance Index: -12.8600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2229
    Cell Significance Index: -11.2600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2255
    Cell Significance Index: -17.3100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2382
    Cell Significance Index: -12.4100
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -0.2448
    Cell Significance Index: -2.7200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2468
    Cell Significance Index: -10.1100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.2504
    Cell Significance Index: -7.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2846
    Cell Significance Index: -13.3800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2891
    Cell Significance Index: -15.0200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2901
    Cell Significance Index: -16.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2966
    Cell Significance Index: -8.2900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3132
    Cell Significance Index: -8.0500
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.3320
    Cell Significance Index: -3.2900
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.3432
    Cell Significance Index: -3.6800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3601
    Cell Significance Index: -16.7900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3638
    Cell Significance Index: -16.0900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3831
    Cell Significance Index: -13.4200
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.4051
    Cell Significance Index: -4.6900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4051
    Cell Significance Index: -11.5600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4166
    Cell Significance Index: -4.8600
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.4167
    Cell Significance Index: -4.5700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4180
    Cell Significance Index: -15.8300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4240
    Cell Significance Index: -12.4900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.4276
    Cell Significance Index: -10.6600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4282
    Cell Significance Index: -14.0200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4378
    Cell Significance Index: -13.9500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4443
    Cell Significance Index: -16.3100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4600
    Cell Significance Index: -12.5200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.4828
    Cell Significance Index: -13.9100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4945
    Cell Significance Index: -13.2500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4972
    Cell Significance Index: -13.2800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5037
    Cell Significance Index: -11.0300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.5079
    Cell Significance Index: -12.9400
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.5080
    Cell Significance Index: -3.1900
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.5288
    Cell Significance Index: -9.0400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5300
    Cell Significance Index: -13.2200
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.5485
    Cell Significance Index: -8.0000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.5490
    Cell Significance Index: -11.1700
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.5624
    Cell Significance Index: -7.3400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5627
    Cell Significance Index: -16.1300
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.5644
    Cell Significance Index: -6.4600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.5745
    Cell Significance Index: -14.3500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.5947
    Cell Significance Index: -14.5100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5993
    Cell Significance Index: -12.7200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6001
    Cell Significance Index: -12.9700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.6049
    Cell Significance Index: -12.1500
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.6292
    Cell Significance Index: -10.1900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.6423
    Cell Significance Index: -12.7000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.6495
    Cell Significance Index: -11.1300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6579
    Cell Significance Index: -13.7300
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.6910
    Cell Significance Index: -13.6000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.6925
    Cell Significance Index: -13.8100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.7125
    Cell Significance Index: -11.9300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.7174
    Cell Significance Index: -13.2600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.7260
    Cell Significance Index: -12.2300
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.7283
    Cell Significance Index: -14.2400
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.7309
    Cell Significance Index: -12.6000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.7328
    Cell Significance Index: -10.0000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.7610
    Cell Significance Index: -15.9300
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.7850
    Cell Significance Index: -6.7900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.7914
    Cell Significance Index: -13.3100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.8347
    Cell Significance Index: -16.2900
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.8422
    Cell Significance Index: -12.6000
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.8627
    Cell Significance Index: -11.5000
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: -0.8672
    Cell Significance Index: -10.4900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.8904
    Cell Significance Index: -12.6500
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.8917
    Cell Significance Index: -10.5800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.8993
    Cell Significance Index: -14.5100

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:** PMP2 is a type II transmembrane protein, consisting of two extracellular domains and a single intracellular domain. Its unique structure allows it to interact with other proteins and lipids, contributing to the formation and maintenance of the myelin sheath. PMP2 is also a member of the peripheral myelin protein family, which includes other proteins such as PMP1, PMP28, and PMP22. These proteins share similarities in their structure and function, suggesting a conserved mechanism of action. **Pathways and Functions:** PMP2 plays a crucial role in the formation and maintenance of the myelin sheath, where it interacts with other proteins and lipids to regulate the structure and function of the myelin matrix. Specifically, PMP2 is involved in: 1. **Fatty acid transport:** PMP2 facilitates the transport of fatty acids across the cell membrane, contributing to the synthesis and maintenance of the myelin sheath. 2. **Membrane organization:** PMP2 interacts with other proteins to regulate the organization and structure of the myelin sheath, ensuring proper axonal insulation and signal transmission. 3. **Protein binding:** PMP2 binds to other proteins, including myelin basic protein and myelin-associated glycoprotein, to regulate their function and localization within the myelin sheath. **Clinical Significance:** Dysregulation of PMP2 expression and function has been implicated in various neurological and systemic disorders, including: 1. **Multiple sclerosis:** PMP2 has been shown to be downregulated in patients with multiple sclerosis, a demyelinating disease characterized by axonal damage and inflammation. 2. **Charcot-Marie-Tooth disease:** Mutations in the PMP22 gene, which encodes PMP2, have been linked to Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy. 3. **Inflammatory disorders:** PMP2 has been shown to be upregulated in response to inflammation, suggesting a potential role in the pathogenesis of inflammatory disorders. In conclusion, PMP2 is a multifunctional protein that plays a critical role in maintaining the structural integrity and function of the myelin sheath. Its dysregulation has been implicated in various neurological and systemic disorders, highlighting the importance of PMP2 in maintaining cellular homeostasis and promoting health. Further research is needed to fully elucidate the functions and clinical significance of PMP2, and to explore its potential as a therapeutic target for the treatment of diseases associated with its dysregulation.

Genular Protein ID: 1104380216

Symbol: MYP2_HUMAN

Name: Myelin P2 protein

UniProtKB Accession Codes:

P02689 Q6FHL4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 4 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 EMBL 9 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 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 30 PDBsum 30 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SASBDB 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1720307

Title: Isolation and sequence determination of cDNA encoding P2 protein of human peripheral myelin.

PubMed ID: 1720307

DOI: 10.1016/s0006-291x(05)81402-0

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 7525873

Title: Partial structure and mapping of the human myelin P2 protein gene.

PubMed ID: 7525873

DOI: 10.1046/j.1471-4159.1994.63062010.x

PubMed ID: 6183401

Title: The complete amino acid sequence of human P2 protein.

PubMed ID: 6183401

DOI: 10.1111/j.1471-4159.1982.tb08017.x

PubMed ID: 20421974

Title: Structural and functional characterization of human peripheral nervous system myelin protein P2.

PubMed ID: 20421974

DOI: 10.1371/journal.pone.0010300

PubMed ID: 26257172

Title: Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy.

PubMed ID: 26257172

DOI: 10.1016/j.celrep.2015.07.023

PubMed ID: 27009151

Title: De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

PubMed ID: 27009151

DOI: 10.1093/brain/aww055

PubMed ID: 26828946

Title: A mutation in PMP2 causes dominant demyelinating Charcot-Marie-Tooth neuropathy.

PubMed ID: 26828946

DOI: 10.1371/journal.pgen.1005829

PubMed ID: 30249361

Title: Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

PubMed ID: 30249361

DOI: 10.1016/j.ymgme.2018.08.005

Sequence Information:

  • Length: 132
  • Mass: 14909
  • Checksum: 3D515D32695899D2
  • Sequence:
    • MSNKFLGTWK LVSSENFDDY MKALGVGLAT RKLGNLAKPT VIISKKGDII TIRTESTFKN 
TEISFKLGQE FEETTADNRK TKSIVTLQRG SLNQVQRWDG KETTIKRKLV NGKMVAECKM 
KGVVCTRIYE KV

Genular Protein ID: 4272232345

Symbol: E5RH45_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5RH45

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 1 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 2 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PROSITE 2 PeptideAtlas 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

Sequence Information:

  • Length: 60
  • Mass: 6993
  • Checksum: CD172D9A21729692
  • Sequence:
    • MSNKFLGTWK LVSSENFDDY MKALEHRNPA ERITESSAEM GWQRDNHKEK ASEWENGSGM

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.