Details for: POMT2

Gene ID: 29954

Symbol: POMT2

Ensembl ID: ENSG00000009830

Description: protein O-mannosyltransferase 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: 91.6775
    Cell Significance Index: -14.2600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 56.8120
    Cell Significance Index: -14.4100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 29.7841
    Cell Significance Index: -12.1000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.6736
    Cell Significance Index: -12.1000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.7279
    Cell Significance Index: -14.4600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6872
    Cell Significance Index: -14.5500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.1560
    Cell Significance Index: 30.9800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6414
    Cell Significance Index: 579.1500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5591
    Cell Significance Index: 112.1600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5172
    Cell Significance Index: 29.0200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4399
    Cell Significance Index: 71.5500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3769
    Cell Significance Index: 41.0000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3729
    Cell Significance Index: 23.5100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3292
    Cell Significance Index: 118.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2839
    Cell Significance Index: 33.0800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2619
    Cell Significance Index: 51.9700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2515
    Cell Significance Index: 7.2500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2510
    Cell Significance Index: 6.2800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2261
    Cell Significance Index: 10.2500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1942
    Cell Significance Index: 11.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1898
    Cell Significance Index: 9.8600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1731
    Cell Significance Index: 11.9700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1590
    Cell Significance Index: 15.7300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1556
    Cell Significance Index: 3.3700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1346
    Cell Significance Index: 93.0700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0974
    Cell Significance Index: 4.5400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0970
    Cell Significance Index: 17.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0874
    Cell Significance Index: 3.0700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0841
    Cell Significance Index: 2.3500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0784
    Cell Significance Index: 14.9200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0730
    Cell Significance Index: 39.8700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0530
    Cell Significance Index: 4.0700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0513
    Cell Significance Index: 6.5800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0195
    Cell Significance Index: 2.6800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0104
    Cell Significance Index: 19.5800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0080
    Cell Significance Index: 5.0700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0054
    Cell Significance Index: 0.3600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0042
    Cell Significance Index: 7.7600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0030
    Cell Significance Index: 4.5600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0033
    Cell Significance Index: -4.5000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0035
    Cell Significance Index: -1.5600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0041
    Cell Significance Index: -0.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0078
    Cell Significance Index: -0.2000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0101
    Cell Significance Index: -4.5800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0132
    Cell Significance Index: -9.7700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0133
    Cell Significance Index: -1.9400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0134
    Cell Significance Index: -9.8300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0138
    Cell Significance Index: -10.4300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0181
    Cell Significance Index: -10.2300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0186
    Cell Significance Index: -2.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0232
    Cell Significance Index: -3.9600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0259
    Cell Significance Index: -16.1900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0264
    Cell Significance Index: -0.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0416
    Cell Significance Index: -11.9600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0492
    Cell Significance Index: -5.6400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0522
    Cell Significance Index: -1.4200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0528
    Cell Significance Index: -1.4100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0573
    Cell Significance Index: -5.8500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0620
    Cell Significance Index: -1.3200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0634
    Cell Significance Index: -2.9800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0642
    Cell Significance Index: -1.0800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0684
    Cell Significance Index: -8.8400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0699
    Cell Significance Index: -3.6400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0703
    Cell Significance Index: -3.1100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0712
    Cell Significance Index: -1.0200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0734
    Cell Significance Index: -15.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0748
    Cell Significance Index: -8.8300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0940
    Cell Significance Index: -1.1200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1034
    Cell Significance Index: -6.3400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1077
    Cell Significance Index: -4.0800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1157
    Cell Significance Index: -8.6200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1160
    Cell Significance Index: -3.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1237
    Cell Significance Index: -12.8800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1265
    Cell Significance Index: -8.9500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1300
    Cell Significance Index: -8.3900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1381
    Cell Significance Index: -4.8000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1648
    Cell Significance Index: -13.0500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1663
    Cell Significance Index: -3.2500
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1747
    Cell Significance Index: -1.4900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1787
    Cell Significance Index: -4.7000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1838
    Cell Significance Index: -9.6500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1911
    Cell Significance Index: -2.6800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1991
    Cell Significance Index: -6.3400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2145
    Cell Significance Index: -6.1500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2383
    Cell Significance Index: -14.6500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2414
    Cell Significance Index: -5.2900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2463
    Cell Significance Index: -7.0300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2488
    Cell Significance Index: -5.2800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2584
    Cell Significance Index: -8.4600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2720
    Cell Significance Index: -5.4600
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2721
    Cell Significance Index: -4.7100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2740
    Cell Significance Index: -13.8500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2880
    Cell Significance Index: -10.0900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2975
    Cell Significance Index: -3.7100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3060
    Cell Significance Index: -6.0500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3139
    Cell Significance Index: -7.6600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3165
    Cell Significance Index: -4.7700
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.3356
    Cell Significance Index: -4.7100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3372
    Cell Significance Index: -12.3800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3412
    Cell Significance Index: -4.9000

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:** POMT2 is a protein O-mannosyltransferase enzyme that catalyzes the transfer of mannose sugars to hydroxyl groups on serine or threonine residues in proteins. This process is essential for the proper functioning of various cellular proteins, including those involved in cell signaling, adhesion, and transport. The POMT2 enzyme is unique in its ability to recognize and bind to specific sequences within the protein sequence, ensuring accurate and efficient glycosylation. **Pathways and Functions:** POMT2 is involved in various cellular pathways, including basement membrane organization, cytosol, and endoplasmic reticulum. The gene plays a critical role in the following functions: 1. **Protein O-glycosylation:** POMT2 is responsible for the transfer of mannose sugars to proteins, which is essential for maintaining cellular homeostasis and function. 2. **Cell signaling:** POMT2-glycosylated proteins are involved in cell signaling pathways, including those involved in cell growth, differentiation, and survival. 3. **Adhesion:** POMT2-glycosylated proteins are involved in cell adhesion, which is critical for maintaining tissue structure and function. 4. **Transport:** POMT2-glycosylated proteins are involved in transport across cellular membranes, including those involved in neurotransmission and hormone secretion. **Clinical Significance:** Mutations in the POMT2 gene have been linked to several diseases, including: 1. **MDDGA1, MDDGB1, and MDDGC1:** These diseases are caused by mutations in the POMT1 gene, which is closely related to POMT2. Mutations in POMT2 can lead to similar diseases, including those affecting the brain and nervous system. 2. **Dentate gyrus development:** POMT2 is involved in the development of the dentate gyrus, a critical region of the brain involved in learning and memory. 3. **Reactive gliosis:** POMT2-glycosylated proteins are involved in the regulation of reactive gliosis, a process involved in the response to injury and disease. **Conclusion:** In conclusion, POMT2 is a critical gene involved in protein O-glycosylation, a process essential for maintaining cellular homeostasis and function. Mutations in this gene have been linked to several diseases, highlighting the importance of POMT2 in human health and disease. Further research is needed to fully understand the mechanisms underlying POMT2 function and its implications in human disease.

Genular Protein ID: 1761032234

Symbol: POMT2_HUMAN

Name: Protein O-mannosyl-transferase 2

UniProtKB Accession Codes:

Q9UKY4 Q9NSG6 Q9P1W0 Q9P1W2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CTD 1 ChEBI 10 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 10 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12460945

Title: Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids.

PubMed ID: 12460945

DOI: 10.1093/glycob/cwf086

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

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: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 14699049

Title: Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.

PubMed ID: 14699049

DOI: 10.1073/pnas.0307228101

PubMed ID: 28512129

Title: Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.

PubMed ID: 28512129

DOI: 10.1074/jbc.m117.794487

PubMed ID: 15894594

Title: POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

PubMed ID: 15894594

DOI: 10.1136/jmg.2005.031963

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 16701995

Title: POMT2 mutation in a patient with 'MEB-like' phenotype.

PubMed ID: 16701995

DOI: 10.1016/j.nmd.2006.03.016

PubMed ID: 17923109

Title: POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

PubMed ID: 17923109

DOI: 10.1016/j.bbrc.2007.09.066

PubMed ID: 17878207

Title: Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PubMed ID: 17878207

DOI: 10.1093/brain/awm212

PubMed ID: 17634419

Title: New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

PubMed ID: 17634419

DOI: 10.1212/01.wnl.0000268489.60809.c4

PubMed ID: 19138766

Title: POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

PubMed ID: 19138766

DOI: 10.1016/j.ejmg.2008.12.004

PubMed ID: 19299310

Title: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

PubMed ID: 19299310

DOI: 10.1212/01.wnl.0000346518.68110.60

PubMed ID: 22958903

Title: Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

PubMed ID: 22958903

DOI: 10.1016/j.ajhg.2012.07.009

Sequence Information:

  • Length: 750
  • Mass: 84214
  • Checksum: 79732D6C4978CFB9
  • Sequence:
    • MPPATGGGLA ESELRPRRGR CGPQAARAAG RDVAAEAVAR SPKRPAWGSR RFEAVGWWAL 
LALVTLLSFA TRFHRLDEPP HICWDETHFG KMGSYYINRT FFFDVHPPLG KMLIGLAGYL 
SGYDGTFLFQ KPGDKYEHHS YMGMRGFCAF LGSWLVPFAY LTVLDLSKSL SAALLTAALL 
TFDTGCLTLS QYILLDPILM FFIMAAMLSM VKYNSCADRP FSAPWWFWLS LTGVSLAGAL 
GVKFVGLFII LQVGLNTIAD LWYLFGDLSL SLVTVGKHLT ARVLCLIVLP LALYTATFAV 
HFMVLSKSGP GDGFFSSAFQ ARLSGNNLHN ASIPEHLAYG SVITVKNLRM AIGYLHSHRH 
LYPEGIGARQ QQVTTYLHKD YNNLWIIKKH NTNSDPLDPS FPVEFVRHGD IIRLEHKETS 
RNLHSHYHEA PMTRKHYQVT GYGINGTGDS NDFWRIEVVN RKFGNRIKVL RSRIRFIHLV 
TGCVLGSSGK VLPKWGWEQL EVTCTPYLKE TLNSIWNVED HINPKLPNIS LDVLQPSFPE 
ILLESHMVMI RGNSGLKPKD NEFTSKPWHW PINYQGLRFS GVNDTDFRVY LLGNPVVWWL 
NLLSIALYLL SGSIIAVAMQ RGARLPAEVA GLSQVLLRGG GQVLLGWTLH YFPFFLMGRV 
LYFHHYFPAM LFSSMLTGIL WDTLLRLCAW GLASWPLARG IHVAGILSLL LGTAYSFYLF 
HPLAYGMVGP LAQDPQSPMA GLRWLDSWDF

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.