Annotation Detail for PMM2
Basic Information Top
| Gene Symbol: | PMM2 ( CDG1,CDG1a,CDGS,PMM 2 ) |
|---|---|
| Gene Full Name: | phosphomannomutase 2 |
| Band: | 16p13.2 |
| Quick Links | Entrez ID:5373; OMIM: 601785; Uniprot ID:PMM2_HUMAN; ENSEMBL ID: ENSG00000140650; HGNC ID: 9115 |
| Relate to Another Database: | SFARIGene; denovo-db |
- Unigene ID: Hs.659263
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
 | |||
| embryoid body | 7 / 70761 | 98 |  |
| blastocyst | 2 / 62319 | 32 |  |
| fetus | 14 / 564012 | 24 | |
| neonate | 6 / 31097 | 192 | |
| infant | 0 / 23620 | 0 | |
| juvenile | 18 / 55556 | 323 |  |
| adult | 129 / 1939121 | 66 | |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
| |||
| adrenal tumor | 0 / 12794 | 0 | |
| bladder carcinoma | 0 / 17475 | 0 | |
| breast (mammary gland) tumor | 18 / 94178 | 191 | |
| cervical tumor | 4 / 34366 | 116 | |
| chondrosarcoma | 6 / 82823 | 72 | |
| colorectal tumor | 18 / 114246 | 157 | |
| esophageal tumor | 2 / 17290 | 115 | |
| gastrointestinal tumor | 8 / 119369 | 67 | |
| germ cell tumor | 34 / 263845 | 128 | |
| glioma | 12 / 106883 | 112 | |
| head and neck tumor | 12 / 136302 | 88 | |
| kidney tumor | 7 / 68959 | 101 | |
| leukemia | 6 / 95842 | 62 | |
| liver tumor | 20 / 96359 | 207 | |
| lung tumor | 4 / 103127 | 38 | |
| lymphoma | 2 / 71755 | 27 | |
| non-neoplasia | 6 / 97250 | 61 | |
| normal | 201 / 3360307 | 59 | |
| ovarian tumor | 1 / 76682 | 13 | |
| pancreatic tumor | 15 / 104616 | 143 | |
| primitive neuroectodermal tumor of the CNS | 13 / 125680 | 103 | |
| prostate cancer | 3 / 102680 | 29 | |
| retinoblastoma | 3 / 46356 | 64 | |
| skin tumor | 19 / 124949 | 152 | |
| soft tissue/muscle tissue tumor | 5 / 125191 | 39 | |
| uterine tumor | 8 / 90257 | 88 | |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
| |||
| adipose tissue | 0 / 13106 | 0 | |
| adrenal gland | 2 / 33197 | 60 | |
| ascites | 2 / 40015 | 49 | |
| bladder | 3 / 29757 | 100 | |
| blood | 11 / 123478 | 89 | |
| bone | 1 / 71655 | 13 | |
| bone marrow | 1 / 48801 | 20 | |
| brain | 50 / 1100989 | 45 | |
| cervix | 4 / 48171 | 83 | |
| connective tissue | 16 / 149255 | 107 | |
| ear | 0 / 16212 | 0 | |
| embryonic tissue | 13 / 215722 | 60 | |
| esophagus | 2 / 20209 | 98 | |
| eye | 3 / 211054 | 14 | |
| heart | 8 / 89626 | 89 | |
| intestine | 34 / 234472 | 145 | |
| kidney | 31 / 211777 | 146 | |
| larynx | 1 / 24145 | 41 | |
| liver | 27 / 207743 | 129 | |
| lung | 18 / 336974 | 53 | |
| lymph | 2 / 44270 | 45 | |
| lymph node | 0 / 91610 | 0 | |
| mammary gland | 18 / 153271 | 117 | |
| mouth | 12 / 67052 | 178 | |
| muscle | 4 / 107715 | 37 | |
| nerve | 0 / 15768 | 0 | |
| ovary | 4 / 102051 | 39 | |
| pancreas | 19 / 214812 | 88 | |
| parathyroid | 0 / 20539 | 0 | |
| pharynx | 0 / 41328 | 0 | |
| pituitary gland | 0 / 16585 | 0 | |
| placenta | 35 / 280825 | 124 | |
| prostate | 13 / 189345 | 68 | |
| salivary gland | 0 / 20155 | 0 | |
| skin | 32 / 210574 | 151 | |
| spleen | 6 / 53952 | 111 | |
| stomach | 7 / 96619 | 72 | |
| testis | 22 / 330442 | 66 | |
| thymus | 3 / 81131 | 36 | |
| thyroid | 1 / 47473 | 21 | |
| tonsil | 0 / 16999 | 0 | |
| trachea | 5 / 52413 | 95 | |
| umbilical cord | 0 / 13680 | 0 | |
| uterus | 21 / 232878 | 90 | |
| vascular | 14 / 51780 | 270 | |
- Microarray Platform: GeneAtlas U133A, gcrma
- Affymatrix Probe ID: 203201_at
| Cell line | Expression level | Expression bar |
|---|---|---|
| ||
| 721_B_lymphoblasts | 21.5 | |
| Adipocyte | 5.65 |  |
| AdrenalCortex | 5.8 | |
| Adrenalgland | 4.7 | |
| Amygdala | 5.3 | |
| Appendix | 5.45 | |
| AtrioventricularNode | 4.2 | |
| BDCA4+_DentriticCells | 11.7 | |
| Bonemarrow | 5.3 | |
| BronchialEpithelialCells | 8.7 | |
| CD105+_Endothelial | 5.6 | |
| CD14+_Monocytes | 16.75 | |
| CD19+_BCells(neg._sel.) | 9.55 | |
| CD33+_Myeloid | 9.95 | |
| CD34+ | 10.5 | |
| CD4+_Tcells | 8.4 | |
| CD56+_NKCells | 9.75 | |
| CD71+_EarlyErythroid | 4.95 | |
| CD8+_Tcells | 10.1 | |
| CardiacMyocytes | 8.25 | |
| Caudatenucleus | 4.9 | |
| Cerebellum | 4.45 | |
| CerebellumPeduncles | 6.15 | |
| CiliaryGanglion | 3.9 | |
| CingulateCortex | 5.7 | |
| Colorectaladenocarcinoma | 7.1 | |
| DorsalRootGanglion | 4.65 | |
| FetalThyroid | 5.65 | |
| Fetalbrain | 4.9 | |
| Fetalliver | 4.75 | |
| Fetallung | 4.75 | |
| GlobusPallidus | 4 | |
| Heart | 7 | |
| Hypothalamus | 5.55 | |
| Kidney | 4.45 | |
| Leukemia_chronicMyelogenousK-562 | 5.1 | |
| Leukemia_promyelocytic-HL-60 | 5.25 | |
| Leukemialymphoblastic(MOLT-4) | 4.9 | |
| Liver | 7.3 | |
| Lung | 6.2 | |
| Lymphnode | 5.45 | |
| Lymphoma_burkitts(Daudi) | 12.25 | |
| Lymphoma_burkitts(Raji) | 7.75 | |
| MedullaOblongata | 5 | |
| OccipitalLobe | 4.85 | |
| OlfactoryBulb | 4.35 | |
| Ovary | 3.65 | |
| Pancreas | 4.45 | |
| PancreaticIslet | 5.95 | |
| ParietalLobe | 5.85 | |
| Pituitary | 6.5 | |
| Placenta | 12.85 | |
| Pons | 5.25 | |
| PrefrontalCortex | 6.8 | |
| Prostate | 6.65 | |
| Salivarygland | 4.65 | |
| SkeletalMuscle | 6.3 | |
| Skin | 4.2 | |
| SmoothMuscle | 12.6 | |
| Spinalcord | 5.9 | |
| SubthalamicNucleus | 5 | |
| SuperiorCervicalGanglion | 6.35 | |
| TemporalLobe | 5.05 | |
| Testis | 4.65 | |
| TestisGermCell | 4.6 | |
| TestisIntersitial | 4.6 | |
| TestisLeydigCell | 5.55 | |
| TestisSeminiferousTubule | 4.75 | |
| Thalamus | 5.55 | |
| Thymus | 4.45 | |
| Thyroid | 6.9 | |
| Tongue | 5.55 | |
| Tonsil | 6.1 | |
| Trachea | 5.5 | |
| TrigeminalGanglion | 5.45 | |
| Uterus | 4.6 | |
| UterusCorpus | 4.9 | |
| WholeBlood | 6.15 | |
| Wholebrain | 4.35 | |
| colon | 5.7 | |
| pineal_day | 6.92 | |
| pineal_night | 6.36 | |
| retina | 6.4 | |
| small_intestine | 12.45 | |
- Probe name: CUST_8816_PI416261804
- Donor H0351.2001
- Sex: Male Age: 24 years Race/Ethnicity: African American Handedness: Left
- Tissue Receipt Date: 7/29/2009 Serology: Pass Tissue pH :6.72 Additional Medical Information :History of asthma
- Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
- Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
| Tissue | Expression(mean ± stddev) | Expression Bar |
|---|---|---|
| Amygdala | 5.37 ± 0.47 | ![](../"images/bar_3.png"){kind=small}   |
| Basal Forebrain | 5.53 ± 0.21 | |
| Basal Part of Pons | 5.54 ± 0.14 | |
| Cerebellar Cortex | 5.54 ± 0.39 | |
| Cerebellar Nuclei | 5.46 ± 0.43 | |
| Claustrum | 5.27 ± 0.73 | |
| Epithalamus | 5.37 ± 0.29 | |
| Frontal Lobe | 5.45 ± 0.35 | |
| Globus Pallidus | 5.89 ± 0.29 | |
| Hypothalamus | 5.24 ± 0.45 | |
| Insula | 5.43 ± 0.35 | |
| Limbic Lobe | 5.67 ± 0.3 | |
| Mesencephalon | 5.57 ± 0.48 | |
| Myelencephalon | 5.48 ± 0.4 | |
| Occipital Lobe | 5.92 ± 0.4 | |
| Parietal Lobe | 5.59 ± 0.3 | |
| Pontine Tegmentum | 5.59 ± 0.48 | |
| Striatum | 5.85 ± 0.29 | |
| Subthalamus | 5.61 ± 0.28 | |
| Temporal Lobe | 5.49 ± 0.35 | |
| Thalamus | 5.47 ± 0.45 | |
| White Matter | 6.28 ± 0.09 | |
Mouse Brain ISH 
| Gene Symbol | Brain Structure ID | Brain Structure Name | Express Desity/Level (Meatured by ISH) | Express Bar |
|---|---|---|---|---|
| Pmm2 | CB | Cerebellum | 100 | |
| 100 | | |||
| Pmm2 | CTX | Cerebral cortex | 100 | |
| 100 | | |||
| Pmm2 | HIP | Hippocampal region | 100 | |
| 100 | | |||
| Pmm2 | HPF | Hippocampal formation | 100 | |
| 100 | | |||
| Pmm2 | HY | Hypothalamus | 84.55 | |
| 67.27 | | |||
| Pmm2 | LSX | Lateral septal complex | 100 | |
| 100 | | |||
| Pmm2 | MB | Midbrain | 95.21 | |
| 87.52 | | |||
| Pmm2 | MY | Medulla | 68.89 | |
| 72.69 | | |||
| Pmm2 | OLF | Olfactory bulb | 100 | |
| 100 | | |||
| Pmm2 | P | Pons | 80.03 | |
| 81.56 | | |||
| Pmm2 | PAL | Pallidum | 73.4 | |
| 62.01 | | |||
| Pmm2 | RHP | Retrohippocampal region | 100 | |
| 89.65 | | |||
| Pmm2 | sAMY | Striatum-like amygdalar nuclei | 95.09 | |
| 69.08 | | |||
| Pmm2 | STR | Striatum | 100 | |
| 100 | | |||
| Pmm2 | STRd | Striatum dorsal region | 100 | |
| 100 | | |||
| Pmm2 | STRv | Striatum ventral region | 100 | |
| 100 | | |||
| Pmm2 | TH | Thalamus | 100 | |
| 94.18 | |
| Peptide Name | Peptide Lengh | Peptide Start | Peptide End | Peptide Sequence | Source |
|---|---|---|---|---|---|
| PAp00007004 | 16 | 135 | 150 | SCSQEERIEFYELDKK | Peptide Atlas |
| PMM2_HUMAN_124 | 11 | 124 | 134 | NGMLNVSPIGR | PRIDE |
| PMM2_HUMAN_155 | 8 | 155 | 162 | QKFVADLR | PRIDE |
| PMM2_HUMAN_2 | 20 | 2 | 21 | AAPGPALCLFDVDGTLTAPR | PRIDE |
| PMM2_HUMAN_225 | 13 | 225 | 237 | TMGYSVTAPEDTR | PRIDE |