Details for: PMM2
Gene ID: 5373
Gene Type: Protein-coding - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.
Symbol: PMM2
Ensembl ID: ENSG00000140650
Description: phosphomannomutase 2
Selected Context(s): Overall
Cell Significance Landscape
Associated with
Significant Cells
Cell Significance Index (CSI) scores for the chosen context(s)
-
CSI 18.02rCSI 44.6%PRS 33.52
-
CSI 16.92rCSI 20.27%PRS 53.88
-
CSI 6.24rCSI 9.97%PRS 38.32
-
CSI 6.17rCSI 4.67%PRS 46.24
-
CSI 6.13rCSI 13.58%PRS 32.78
-
CSI 6.02rCSI 13.18%PRS 45.04
-
CSI 5.22rCSI 7.98%PRS 51.45
-
CSI 4.9rCSI 5.86%PRS 22.45
-
CSI 4.46rCSI 25.68%PRS 38.99
-
CSI 4.45rCSI 3%PRS 43.78
-
CSI 4.4rCSI 6.82%PRS 45.85
-
CSI 4.05rCSI 13.05%PRS 35.68
-
CSI 4.03rCSI 15.11%PRS 30.06
-
CSI 3.98rCSI 10.08%PRS 27.67
-
CSI 3.83rCSI 3.4%PRS 34.79
-
CSI 3.63rCSI 8.86%PRS 32.85
-
CSI 3.47rCSI 13.99%PRS 34.2
-
CSI 3.41rCSI 3.22%PRS 36.43
-
CSI 3.4rCSI 3.93%PRS 26.93
-
CSI 3.4rCSI 5.46%PRS 24.39
-
CSI 3.38rCSI 7.57%PRS 23.07
-
CSI 3.3rCSI 3.46%PRS 37.36
-
CSI 3.21rCSI 5.75%PRS 33.53
-
CSI 3.12rCSI 2.17%PRS 42.35
-
CSI 3.06rCSI 4.06%PRS 38.92
-
CSI 2.88rCSI 2.43%PRS 51.49
-
CSI 2.85rCSI 8.46%PRS 46.13
-
CSI 2.84rCSI 7.99%PRS 38.1
-
CSI 2.71rCSI 2.13%PRS 40.96
-
CSI 2.71rCSI 2.01%PRS 30.29
-
CSI 2.65rCSI 2.47%PRS 35.05
-
CSI 2.63rCSI 6.32%PRS 52.62
-
CSI 2.58rCSI 1.52%PRS 48.3
-
CSI 2.48rCSI 1.96%PRS 25.06
-
CSI 2.48rCSI 3.2%PRS 23.31
-
CSI 2.41rCSI 2.32%PRS 27.31
-
CSI 2.4rCSI 2.45%PRS 54.11
-
CSI 2.39rCSI 57.15%PRS 22.03
-
CSI 2.32rCSI 4.67%PRS 26.9
-
CSI 2.32rCSI 2.28%PRS 37.53
-
CSI 2.3rCSI 1.73%PRS 37.89
-
CSI 2.29rCSI 55.32%PRS 22.81
-
CSI 2.25rCSI 3.7%PRS 40.18
-
CSI 2.24rCSI 2.87%PRS 39.76
-
CSI 2.23rCSI 2.05%PRS 41.52
-
CSI 2.23rCSI 2.05%PRS 36.33
-
CSI 2.21rCSI 4.14%PRS 26.93
-
CSI 2.2rCSI 2.73%PRS 21.26
-
CSI 2.16rCSI 3.43%PRS 44.41
-
CSI 2.13rCSI 2.33%PRS 38.96
-
CSI 2.11rCSI 2.03%PRS 36.02
-
CSI 2.11rCSI 10.1%PRS 33.38
-
CSI 2.1rCSI 3.31%PRS 35.88
-
CSI 2.09rCSI 3.32%PRS 29.86
-
CSI 2.06rCSI 2.64%PRS 32.97
-
CSI 2.05rCSI 2.95%PRS 28.21
-
CSI 2.03rCSI 2.99%PRS 32.65
-
CSI 1.98rCSI 4.12%PRS 34.22
-
CSI 1.97rCSI 2.45%PRS 37.65
-
CSI 1.93rCSI 4.41%PRS 34.78
-
CSI 1.91rCSI 2.92%PRS 35.59
-
CSI 1.89rCSI 1.98%PRS 32.95
-
CSI 1.88rCSI 1.96%PRS 35.86
-
CSI 1.85rCSI 2.73%PRS 51.66
-
CSI 1.83rCSI 4.05%PRS 25.9
-
CSI 1.83rCSI 3%PRS 27.76
-
CSI 1.82rCSI 3.15%PRS 27.57
-
CSI 1.79rCSI 4.63%PRS 32.34
-
CSI 1.77rCSI 1.54%PRS 38.86
-
CSI 1.69rCSI 4.41%PRS 34.54
-
CSI 1.65rCSI 1.28%PRS 34.97
-
CSI 1.58rCSI 3.77%PRS 38.28
-
CSI 1.53rCSI 2.16%PRS 32.97
-
CSI 1.51rCSI 3.66%PRS 21.89
-
CSI 1.46rCSI 3.2%PRS 49.58
-
CSI 1.44rCSI 1.78%PRS 31.62
-
CSI 1.42rCSI 4.56%PRS 32.38
-
CSI 1.39rCSI 3.32%PRS 46.79
-
CSI 1.37rCSI 1.83%PRS 37.14
-
CSI 1.36rCSI 2.09%PRS 33.47
-
CSI 1.34rCSI 4.19%PRS 23.52
-
CSI 1.33rCSI 3.55%PRS 30
-
CSI 1.31rCSI 2.01%PRS 41.33
-
CSI 1.3rCSI 10.56%PRS 31.78
-
CSI 1.29rCSI 5.73%PRS 80.65
-
CSI 1.23rCSI 2.44%PRS 35.37
-
CSI 1.19rCSI 3.34%PRS 50.2
-
CSI 1.1rCSI 1.61%PRS 45.16
-
CSI 1.05rCSI 2.76%PRS 58.49
-
CSI 0.98rCSI 1.73%PRS 21.75
-
CSI 0.97rCSI 1.46%PRS 36.47
-
CSI 0.87rCSI 0.67%PRS 33.68
-
CSI 0.84rCSI 19.67%PRS 58.2
-
CSI 0.83rCSI 2.24%PRS 44
-
CSI 0.82rCSI 4.05%PRS 45.73
-
CSI 0.76rCSI 3.32%PRS 30.47
-
CSI 0.74rCSI 2.78%PRS 23.38
-
CSI 0.63rCSI 1.98%PRS 25.45
-
CSI 0.62rCSI 3.28%PRS 51.19
-
CSI 0.58rCSI 0.98%PRS 22.55
-
CSI 0.2rCSI 1.9%PRS 24.3%
-
CSI 0.3rCSI 3.4%PRS 56.5%
-
CSI 0.3rCSI 1.9%PRS 23.7%
-
CSI 0.4rCSI 2.7%PRS 55.8%
-
CSI 0.4rCSI 3.3%PRS 25.2%
-
CSI 0.5rCSI 2.8%PRS 29.2%
-
CSI 0.5rCSI 0.8%PRS 50.7%
-
CSI 0.5rCSI 2.2%PRS 55.4%
-
CSI 0.6rCSI 2.1%PRS 21.5%
-
CSI 0.6rCSI 1.0%PRS 22.6%
-
CSI 0.6rCSI 3.3%PRS 51.2%
-
CSI 0.6rCSI 2.0%PRS 25.5%
-
CSI 0.7rCSI 2.8%PRS 23.4%
-
CSI 0.8rCSI 3.3%PRS 30.5%
-
CSI 0.8rCSI 4.1%PRS 45.7%
-
CSI 0.8rCSI 2.2%PRS 44.0%
-
CSI 0.8rCSI 19.7%PRS 58.2%
-
CSI 0.9rCSI 0.7%PRS 33.7%
-
CSI 1.0rCSI 1.5%PRS 36.5%
-
CSI 1.0rCSI 1.7%PRS 21.8%
-
CSI 1.1rCSI 2.8%PRS 58.5%
-
CSI 1.1rCSI 1.6%PRS 45.2%
-
CSI 1.2rCSI 3.3%PRS 50.2%
-
CSI 1.2rCSI 2.4%PRS 35.4%
-
CSI 1.3rCSI 5.7%PRS 80.7%
-
CSI 1.3rCSI 10.6%PRS 31.8%
-
CSI 1.3rCSI 2.0%PRS 41.3%
-
CSI 1.3rCSI 3.6%PRS 30.0%
-
CSI 1.3rCSI 4.2%PRS 23.5%
-
CSI 1.4rCSI 2.1%PRS 33.5%
-
CSI 1.4rCSI 1.8%PRS 37.1%
-
CSI 1.4rCSI 3.3%PRS 46.8%
-
CSI 1.4rCSI 4.6%PRS 32.4%
-
CSI 1.4rCSI 1.8%PRS 31.6%
-
CSI 1.5rCSI 3.2%PRS 49.6%
-
CSI 1.5rCSI 3.7%PRS 21.9%
-
CSI 1.5rCSI 2.2%PRS 33.0%
-
CSI 1.6rCSI 3.8%PRS 38.3%
-
CSI 1.7rCSI 1.3%PRS 35.0%
-
CSI 1.7rCSI 4.4%PRS 34.5%
-
CSI 1.8rCSI 1.5%PRS 38.9%
-
CSI 1.8rCSI 4.6%PRS 32.3%
-
CSI 1.8rCSI 3.2%PRS 27.6%
-
CSI 1.8rCSI 3.0%PRS 27.8%
-
CSI 1.8rCSI 4.1%PRS 25.9%
-
CSI 1.9rCSI 2.7%PRS 51.7%
-
CSI 1.9rCSI 2.0%PRS 35.9%
-
CSI 1.9rCSI 2.0%PRS 33.0%
-
CSI 1.9rCSI 2.9%PRS 35.6%
-
CSI 1.9rCSI 4.4%PRS 34.8%
-
CSI 2.0rCSI 2.5%PRS 37.7%
-
CSI 2.0rCSI 4.1%PRS 34.2%
-
CSI 2.0rCSI 3.0%PRS 32.7%
-
CSI 2.1rCSI 3.0%PRS 28.2%
-
CSI 2.1rCSI 2.6%PRS 33.0%
-
CSI 2.1rCSI 3.3%PRS 29.9%
-
CSI 2.1rCSI 3.3%PRS 35.9%
-
CSI 2.1rCSI 10.1%PRS 33.4%
-
CSI 2.1rCSI 2.0%PRS 36.0%
-
CSI 2.1rCSI 2.3%PRS 39.0%
-
CSI 2.2rCSI 3.4%PRS 44.4%
-
CSI 2.2rCSI 2.7%PRS 21.3%
-
CSI 2.2rCSI 4.1%PRS 26.9%
-
CSI 2.2rCSI 2.1%PRS 36.3%
-
CSI 2.2rCSI 2.1%PRS 41.5%
-
CSI 2.2rCSI 2.9%PRS 39.8%
-
CSI 2.3rCSI 3.7%PRS 40.2%
-
CSI 2.3rCSI 55.3%PRS 22.8%
-
CSI 2.3rCSI 1.7%PRS 37.9%
-
CSI 2.3rCSI 2.3%PRS 37.5%
-
CSI 2.3rCSI 4.7%PRS 26.9%
-
CSI 2.4rCSI 57.2%PRS 22.0%
-
CSI 2.4rCSI 2.5%PRS 54.1%
-
CSI 2.4rCSI 2.3%PRS 27.3%
-
CSI 2.5rCSI 3.2%PRS 23.3%
-
CSI 2.5rCSI 2.0%PRS 25.1%
-
CSI 2.6rCSI 1.5%PRS 48.3%
-
CSI 2.6rCSI 6.3%PRS 52.6%
-
CSI 2.7rCSI 2.5%PRS 35.1%
-
CSI 2.7rCSI 2.0%PRS 30.3%
-
CSI 2.7rCSI 2.1%PRS 41.0%
-
CSI 2.8rCSI 8.0%PRS 38.1%
-
CSI 2.9rCSI 8.5%PRS 46.1%
-
CSI 2.9rCSI 2.4%PRS 51.5%
-
CSI 3.1rCSI 4.1%PRS 38.9%
-
CSI 3.1rCSI 2.2%PRS 42.4%
-
CSI 3.2rCSI 5.8%PRS 33.5%
-
CSI 3.3rCSI 3.5%PRS 37.4%
-
CSI 3.4rCSI 7.6%PRS 23.1%
-
CSI 3.4rCSI 5.5%PRS 24.4%
-
CSI 3.4rCSI 3.9%PRS 26.9%
-
CSI 3.4rCSI 3.2%PRS 36.4%
-
CSI 3.5rCSI 14.0%PRS 34.2%
-
CSI 3.6rCSI 8.9%PRS 32.9%
-
CSI 3.8rCSI 3.4%PRS 34.8%
-
CSI 4.0rCSI 10.1%PRS 27.7%
-
CSI 4.0rCSI 15.1%PRS 30.1%
-
CSI 4.1rCSI 13.1%PRS 35.7%
-
CSI 4.4rCSI 6.8%PRS 45.9%
-
CSI 4.5rCSI 3.0%PRS 43.8%
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.
Network Configuration
Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.
Legend:
- Query Gene
-
Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
- Node Size: Proportional to Target Cell CSI magnitude
- STRING PPI Edge
- Shared Pathway Edge (ONTOLOGY)
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
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