Details for: PMM2

Gene ID: 5373

Symbol: PMM2

Ensembl ID: ENSG00000140650

Description: phosphomannomutase 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: 176.2188
    Cell Significance Index: -27.4100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 105.6996
    Cell Significance Index: -26.8100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 60.3127
    Cell Significance Index: -28.4800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 60.1589
    Cell Significance Index: -24.4400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 25.8185
    Cell Significance Index: -24.6500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 22.3122
    Cell Significance Index: -27.5100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.9819
    Cell Significance Index: -26.7400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.0095
    Cell Significance Index: -27.6600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.9223
    Cell Significance Index: -15.1500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.8178
    Cell Significance Index: 360.7500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.7074
    Cell Significance Index: 77.3900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.4474
    Cell Significance Index: 143.1800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.2764
    Cell Significance Index: 36.7800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2076
    Cell Significance Index: 131.3600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.1236
    Cell Significance Index: 15.3300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.0353
    Cell Significance Index: 25.8800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.9376
    Cell Significance Index: 18.3000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.8962
    Cell Significance Index: 23.9300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8525
    Cell Significance Index: 171.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.8299
    Cell Significance Index: 17.9800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.8051
    Cell Significance Index: 35.6100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.7764
    Cell Significance Index: 29.4000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7277
    Cell Significance Index: 37.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6171
    Cell Significance Index: 100.3700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5733
    Cell Significance Index: 44.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5006
    Cell Significance Index: 13.9900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4973
    Cell Significance Index: 13.3300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4806
    Cell Significance Index: 22.4100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4017
    Cell Significance Index: 72.4100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3775
    Cell Significance Index: 135.4200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3759
    Cell Significance Index: 26.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3680
    Cell Significance Index: 45.2600
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.3618
    Cell Significance Index: 3.6500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3592
    Cell Significance Index: 22.0800
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.3442
    Cell Significance Index: 4.9500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3046
    Cell Significance Index: 17.0900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3006
    Cell Significance Index: 271.4100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2971
    Cell Significance Index: 162.2300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.2191
    Cell Significance Index: 11.4100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2134
    Cell Significance Index: 147.5700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2099
    Cell Significance Index: 92.7900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1868
    Cell Significance Index: 25.6500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1710
    Cell Significance Index: 6.0100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1598
    Cell Significance Index: 7.5100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1582
    Cell Significance Index: 11.1900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1160
    Cell Significance Index: 2.4700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0886
    Cell Significance Index: 56.3000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0858
    Cell Significance Index: 132.1000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0733
    Cell Significance Index: 13.9500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0724
    Cell Significance Index: 136.2700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0635
    Cell Significance Index: 86.3900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0609
    Cell Significance Index: 112.3800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0597
    Cell Significance Index: 3.0200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0357
    Cell Significance Index: 16.2100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0279
    Cell Significance Index: 0.4700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0271
    Cell Significance Index: 0.2500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0223
    Cell Significance Index: 2.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0096
    Cell Significance Index: 1.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0022
    Cell Significance Index: 0.1500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0014
    Cell Significance Index: -0.0200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0199
    Cell Significance Index: -0.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0202
    Cell Significance Index: -14.8100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0225
    Cell Significance Index: -3.2700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0230
    Cell Significance Index: -0.5900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0278
    Cell Significance Index: -20.5800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0287
    Cell Significance Index: -21.7400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0383
    Cell Significance Index: -2.4700
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: -0.0410
    Cell Significance Index: -0.4100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0434
    Cell Significance Index: -24.5000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0474
    Cell Significance Index: -29.6100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0547
    Cell Significance Index: -0.8200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0629
    Cell Significance Index: -8.1200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0801
    Cell Significance Index: -23.0600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1048
    Cell Significance Index: -10.7100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1200
    Cell Significance Index: -15.3800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1341
    Cell Significance Index: -3.6500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1350
    Cell Significance Index: -28.4400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1384
    Cell Significance Index: -16.1300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1555
    Cell Significance Index: -3.7300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1671
    Cell Significance Index: -19.1400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1748
    Cell Significance Index: -13.0300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2188
    Cell Significance Index: -3.2300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2318
    Cell Significance Index: -24.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2377
    Cell Significance Index: -14.9800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2449
    Cell Significance Index: -2.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2966
    Cell Significance Index: -9.5000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3101
    Cell Significance Index: -24.5600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3208
    Cell Significance Index: -7.0300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3225
    Cell Significance Index: -9.4700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3268
    Cell Significance Index: -5.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3280
    Cell Significance Index: -20.1100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3606
    Cell Significance Index: -8.3300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3662
    Cell Significance Index: -10.4500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3789
    Cell Significance Index: -10.8600
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.4126
    Cell Significance Index: -6.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4641
    Cell Significance Index: -14.7800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4693
    Cell Significance Index: -9.9600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5080
    Cell Significance Index: -26.6700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5205
    Cell Significance Index: -17.0400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5766
    Cell Significance Index: -20.2000

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** PMM2 is a bifunctional enzyme that catalyzes two reactions in the biosynthesis of glycosylation precursors: the conversion of mannose-5-phosphate to mannose-1-phosphate and the transfer of mannose-1-phosphate to dolichol lipid. The enzyme is a member of the phosphomannomutase family and is highly specific, with a high affinity for its substrates. PMM2 is expressed in various tissues, including the brain, kidney, and lens, and is particularly abundant in cells that require glycosylation for protein modification. **Pathways and Functions** PMM2 is involved in the following pathways: 1. **Asparagine N-Linked Glycosylation**: PMM2 is a critical component of the asparagine N-linked glycosylation pathway, which involves the transfer of a carbohydrate molecule to a protein substrate. 2. **Biosynthesis of the N-Glycan Precursor**: PMM2 is responsible for the conversion of mannose-5-phosphate to mannose-1-phosphate, which is then used to synthesize the glycosylation precursor. 3. **Transfer to a Nascent Protein**: PMM2 facilitates the transfer of the glycosylation precursor to a nascent protein, enabling it to interact with other molecules and maintain cellular homeostasis. **Clinical Significance** Mutations in the PMM2 gene have been associated with various diseases, including: 1. **Congenital Disorders of Glycosylation Type I (CDG-I)**: CDG-I is a group of disorders that affect the synthesis of glycosylation precursors and lead to a wide range of clinical manifestations, including developmental delays, intellectual disability, and visual impairment. 2. **Diseases of Glycosylation**: PMM2 mutations have also been associated with other diseases of glycosylation, including leukodystrophies and neurological disorders. 3. **Metabolic Disorders**: PMM2 mutations can also lead to metabolic disorders, including glycogen storage diseases and disorders of lipid metabolism. In conclusion, PMM2 is a critical enzyme involved in the biosynthesis of glycosylation precursors, and mutations in the PMM2 gene have significant clinical implications. Further research is needed to fully understand the mechanisms of PMM2-mediated glycosylation and to develop effective treatments for diseases associated with PMM2 mutations.

Genular Protein ID: 2403980295

Symbol: PMM2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9140401

Title: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PubMed ID: 9140401

DOI: 10.1038/ng0597-88

PubMed ID: 9425221

Title: Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.

PubMed ID: 9425221

DOI: 10.1093/hmg/7.2.157

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

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: 16540464

Title: The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.

PubMed ID: 16540464

DOI: 10.1074/jbc.m601505200

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 17850744

Title: Ensemble refinement of protein crystal structures: validation and application.

PubMed ID: 17850744

DOI: 10.1016/j.str.2007.06.019

PubMed ID: 10527672

Title: Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PubMed ID: 10527672

DOI: 10.1006/mgme.1999.2914

PubMed ID: 9497260

Title: Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

PubMed ID: 9497260

DOI: 10.1086/301763

PubMed ID: 9781039

Title: Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

PubMed ID: 9781039

DOI: 10.1038/sj.ejhg.5200194

PubMed ID: 10066032

Title: Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

PubMed ID: 10066032

DOI: 10.1034/j.1399-0004.1999.550109.x

PubMed ID: 10602363

Title: Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PubMed ID: 10602363

DOI: 10.1038/sj.ejhg.5200398

PubMed ID: 10571956

Title: Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

PubMed ID: 10571956

DOI: 10.1002/(sici)1098-1004(199912)14:6<543::aid-humu17>3.0.co;2-s

PubMed ID: 11058895

Title: Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

PubMed ID: 11058895

DOI: 10.1002/1098-1004(200011)16:5<386::aid-humu2>3.0.co;2-y

PubMed ID: 11058896

Title: PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

PubMed ID: 11058896

DOI: 10.1002/1098-1004(200011)16:5<395::aid-humu3>3.0.co;2-t

PubMed ID: 10801058

Title: Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

PubMed ID: 10801058

DOI: 10.1023/a:1005669900330

PubMed ID: 11350185

Title: Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.

PubMed ID: 11350185

DOI: 10.1006/mgme.2001.3174

PubMed ID: 12357336

Title: DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

PubMed ID: 12357336

DOI: 10.1038/sj.ejhg.5200858

PubMed ID: 15844218

Title: A new insight into PMM2 mutations in the French population.

PubMed ID: 15844218

DOI: 10.1002/humu.9336

PubMed ID: 17307006

Title: Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

PubMed ID: 17307006

DOI: 10.1016/j.ymgme.2007.01.003

Sequence Information:

  • Length: 246
  • Mass: 28082
  • Checksum: 29F1D5B9539B6221
  • Sequence:
  • MAAPGPALCL FDVDGTLTAP RQKITKEMDD FLQKLRQKIK IGVVGGSDFE KVQEQLGNDV 
    VEKYDYVFPE NGLVAYKDGK LLCRQNIQSH LGEALIQDLI NYCLSYIAKI KLPKKRGTFI 
    EFRNGMLNVS PIGRSCSQEE RIEFYELDKK ENIRQKFVAD LRKEFAGKGL TFSIGGQISF 
    DVFPDGWDKR YCLRHVENDG YKTIYFFGDK TMPGGNDHEI FTDPRTMGYS VTAPEDTRRI 
    CELLFS

Genular Protein ID: 3674974697

Symbol: Q59F02_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 165
  • Mass: 19248
  • Checksum: 5915C1643DE6FC1F
  • Sequence:
  • PLLFRISQDF RLFIYDVAQM NNVFLEKLCH PFIPRGTFIE FRNGMLNVSP IGRSCSQEER 
    IEFYELDKKE NIRQKFVADL RKEFAGKGLT FSIGGQISFD VFPDGWDKRY CLRHVANDGY 
    KTIYFFGDKT MPGGNDHEIF TDPRTMGYSV TAPEDTRRIC ELLFS

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.