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# | Reference Title | Reference Citation |
1. | PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. | Bjursell C, etal., Hum Mutat. 2000 Nov;16(5):395-400. |
2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
3. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
4. | Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. | Kondo I, etal., Clin Genet. 1999 Jan;55(1):50-4. |
5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
9. | Comprehensive gene review and curation | RGD comprehensive gene curation |
Pmm2 (Rattus norvegicus - Norway rat) |
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PMM2 (Homo sapiens - human) |
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Pmm2 (Mus musculus - house mouse) |
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Pmm2 (Chinchilla lanigera - long-tailed chinchilla) |
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PMM2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PMM2 (Canis lupus familiaris - dog) |
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Pmm2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PMM2 (Sus scrofa - pig) |
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PMM2 (Chlorocebus sabaeus - green monkey) |
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Pmm2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Pmm2
214 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH130369 |
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RH137135 |
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MARC_26359-29406:1040140027:1 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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16 | 12 | 67 | 164 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 143 | 81 | 92 | 31 | 17 | 17 |
RefSeq Transcripts | NM_001106973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006245755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039085807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063268856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC129395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC168922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474017 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ232490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000003542 ⟹ ENSRNOP00000003542 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000096880 ⟹ ENSRNOP00000092345 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000099499 ⟹ ENSRNOP00000092992 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000145163 ⟹ ENSRNOP00000099153 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001106973 ⟹ NP_001100443 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006245755 ⟹ XP_006245817 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039085807 ⟹ XP_038941735 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063268856 ⟹ XP_063124926 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001100443 | (Get FASTA) | NCBI Sequence Viewer |
XP_006245817 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038941735 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063124926 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI68922 | (Get FASTA) | NCBI Sequence Viewer |
EDL96241 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000003542 | ||
ENSRNOP00000003542.5 | |||
ENSRNOP00000092345 | |||
ENSRNOP00000092345.1 | |||
ENSRNOP00000092992.1 |
RefSeq Acc Id: | NP_001100443 ⟸ NM_001106973 |
- UniProtKB: | B5DF46 (UniProtKB/TrEMBL), F7F1X7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006245817 ⟸ XM_006245755 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I6AJ30 (UniProtKB/TrEMBL), F7F1X7 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000003542 ⟸ ENSRNOT00000003542 |
RefSeq Acc Id: | XP_038941735 ⟸ XM_039085807 |
- Peptide Label: | isoform X3 |
Ensembl Acc Id: | ENSRNOP00000092345 ⟸ ENSRNOT00000096880 |
Ensembl Acc Id: | ENSRNOP00000092992 ⟸ ENSRNOT00000099499 |
RefSeq Acc Id: | XP_063124926 ⟸ XM_063268856 |
- Peptide Label: | isoform X2 |
Ensembl Acc Id: | ENSRNOP00000099153 ⟸ ENSRNOT00000145163 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-B5DF46-F1-model_v2 | AlphaFold | B5DF46 | 1-242 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13696952 | ||||||||
Promoter ID: | EPDNEW_R7477 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Pmm2_1 | ||||||||
Description: | phosphomannomutase 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1309366 | AgrOrtholog |
BioCyc Gene | G2FUF-26096 | BioCyc |
BioCyc Pathway | PWY-5659 [GDP-mannose biosynthesis] | BioCyc |
BioCyc Pathway Image | PWY-5659 | BioCyc |
Ensembl Genes | ENSRNOG00000002615 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000003542 | ENTREZGENE |
ENSRNOT00000003542.6 | UniProtKB/TrEMBL | |
ENSRNOT00000096880 | ENTREZGENE | |
ENSRNOT00000096880.1 | UniProtKB/TrEMBL | |
ENSRNOT00000099499.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.1240.20 | UniProtKB/TrEMBL |
3.40.50.1000 | UniProtKB/TrEMBL | |
InterPro | HAD-like_dom | UniProtKB/TrEMBL |
HAD-like_sf | UniProtKB/TrEMBL | |
HAD-SF_hydro_IIB | UniProtKB/TrEMBL | |
PMM | UniProtKB/TrEMBL | |
PMM_cap | UniProtKB/TrEMBL | |
KEGG Report | rno:302915 | UniProtKB/TrEMBL |
NCBI Gene | 302915 | ENTREZGENE |
PANTHER | PHOSPHOMANNOMUTASE 2 | UniProtKB/TrEMBL |
PMM | UniProtKB/TrEMBL | |
Pfam | PMM | UniProtKB/TrEMBL |
PhenoGen | Pmm2 | PhenoGen |
RatGTEx | ENSRNOG00000002615 | RatGTEx |
Superfamily-SCOP | HAD-like_dom | UniProtKB/TrEMBL |
UniProt | A0A8I6ADT0_RAT | UniProtKB/TrEMBL |
A0A8I6AJ30 | ENTREZGENE, UniProtKB/TrEMBL | |
B5DF46 | ENTREZGENE, UniProtKB/TrEMBL | |
F7F1X7 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-04-30 | Pmm2 | phosphomannomutase 2 | Pmm2_predicted | phosphomannomutase 2 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-12 | Pmm2_predicted | phosphomannomutase 2 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |