Details for: PMM2
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
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.
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.
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
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
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22223895
Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
PubMed ID: 22223895
PubMed ID: 22814378
Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
PubMed ID: 22814378
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 17850744
Title: Ensemble refinement of protein crystal structures: validation and application.
PubMed ID: 17850744
PubMed ID: 10527672
Title: Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
PubMed ID: 10527672
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
PubMed ID: 10066032
Title: Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.
PubMed ID: 10066032
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
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
PubMed ID: 11350185
Title: Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.
PubMed ID: 11350185
PubMed ID: 12357336
Title: DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
PubMed ID: 12357336
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
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.