Details for: MAN2C1

Gene ID: 4123

Symbol: MAN2C1

Ensembl ID: ENSG00000140400

Description: mannosidase alpha class 2C member 1

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: 143.7524
    Cell Significance Index: -22.3600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 86.8148
    Cell Significance Index: -22.0200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 51.0760
    Cell Significance Index: -20.7500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 45.2482
    Cell Significance Index: -23.2800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 35.7067
    Cell Significance Index: -23.9600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 21.8069
    Cell Significance Index: -20.8200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.3762
    Cell Significance Index: -23.8900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.3767
    Cell Significance Index: -22.4400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.7737
    Cell Significance Index: -20.8100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.1809
    Cell Significance Index: -24.3900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.3185
    Cell Significance Index: -11.6400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0133
    Cell Significance Index: 13.8300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0021
    Cell Significance Index: 201.0300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9460
    Cell Significance Index: 102.9000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8583
    Cell Significance Index: 51.5300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7742
    Cell Significance Index: 22.3100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7660
    Cell Significance Index: 20.5300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6187
    Cell Significance Index: 17.2900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6109
    Cell Significance Index: 121.2400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5811
    Cell Significance Index: 30.2700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5650
    Cell Significance Index: 25.6100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5433
    Cell Significance Index: 11.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5199
    Cell Significance Index: 186.5000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4568
    Cell Significance Index: 35.0600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4522
    Cell Significance Index: 23.4900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3886
    Cell Significance Index: 53.3700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.3470
    Cell Significance Index: 17.5400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3261
    Cell Significance Index: 15.2100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3171
    Cell Significance Index: 21.9300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3074
    Cell Significance Index: 55.4200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2785
    Cell Significance Index: 17.9700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2685
    Cell Significance Index: 5.2400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2569
    Cell Significance Index: 231.9900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2517
    Cell Significance Index: 47.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2027
    Cell Significance Index: 110.6900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1997
    Cell Significance Index: 5.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1904
    Cell Significance Index: 12.8100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1811
    Cell Significance Index: 6.3700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1748
    Cell Significance Index: 21.5000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1695
    Cell Significance Index: 21.7300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1661
    Cell Significance Index: 10.4700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1444
    Cell Significance Index: 3.6100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1339
    Cell Significance Index: 13.2500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1268
    Cell Significance Index: 5.9600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1120
    Cell Significance Index: 4.2400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1117
    Cell Significance Index: 49.3700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1115
    Cell Significance Index: 4.9300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0634
    Cell Significance Index: 119.4300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0506
    Cell Significance Index: 1.4500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0427
    Cell Significance Index: 0.9100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0377
    Cell Significance Index: 0.4500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0371
    Cell Significance Index: 68.3500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0350
    Cell Significance Index: 5.9700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0337
    Cell Significance Index: 4.3500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0298
    Cell Significance Index: 45.9500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0286
    Cell Significance Index: 12.9600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0260
    Cell Significance Index: 1.9400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0251
    Cell Significance Index: 0.6600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0219
    Cell Significance Index: 13.9100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0114
    Cell Significance Index: 0.2100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0040
    Cell Significance Index: 5.4800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0021
    Cell Significance Index: 0.0600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0139
    Cell Significance Index: -10.1600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0139
    Cell Significance Index: -10.5400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0165
    Cell Significance Index: -0.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0170
    Cell Significance Index: -2.4700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0184
    Cell Significance Index: -1.8800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0259
    Cell Significance Index: -19.1800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0324
    Cell Significance Index: -18.2700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0419
    Cell Significance Index: -26.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0646
    Cell Significance Index: -7.4000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0669
    Cell Significance Index: -7.9000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0727
    Cell Significance Index: -20.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0818
    Cell Significance Index: -9.5300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0961
    Cell Significance Index: -2.5700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1038
    Cell Significance Index: -7.3400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1171
    Cell Significance Index: -1.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1172
    Cell Significance Index: -24.6900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1222
    Cell Significance Index: -1.7600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1512
    Cell Significance Index: -7.9400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1730
    Cell Significance Index: -18.0100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1864
    Cell Significance Index: -10.4600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1923
    Cell Significance Index: -4.2100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2004
    Cell Significance Index: -4.6300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2201
    Cell Significance Index: -3.2500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2711
    Cell Significance Index: -21.4800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2901
    Cell Significance Index: -9.2900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2934
    Cell Significance Index: -17.9900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.2955
    Cell Significance Index: -4.2500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3167
    Cell Significance Index: -8.1400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3189
    Cell Significance Index: -11.0800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3218
    Cell Significance Index: -19.7800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3297
    Cell Significance Index: -8.0500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3521
    Cell Significance Index: -10.3400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3952
    Cell Significance Index: -5.9600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4018
    Cell Significance Index: -3.7000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4063
    Cell Significance Index: -12.9400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.4234
    Cell Significance Index: -6.2500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4388
    Cell Significance Index: -11.2100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4470
    Cell Significance Index: -7.6600

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:** 1. **Enzyme Activity:** MAN2C1 is a member of the alpha-mannosidase family, which is responsible for the hydrolysis of mannose-containing oligosaccharides. This enzyme activity is critical for the degradation of complex carbohydrates, which are essential for energy production and cellular signaling. 2. **Cellular Localization:** MAN2C1 is predominantly expressed in the cytosol and lysosomes of various cell types, including neurons, pancreatic cells, and radial glial cells. 3. **Signaling Pathways:** MAN2C1 is involved in multiple signaling pathways, including carbohydrate metabolism, metal ion binding, and nucleoplasmic processes. Its expression is also linked to the regulation of neuronal function, particularly in the context of glutamatergic cortical neurons. **Pathways and Functions:** 1. **Alpha-mannosidase Activity:** MAN2C1 plays a critical role in the hydrolysis of mannose-containing oligosaccharides, which is essential for the degradation of complex carbohydrates. 2. **Carbohydrate Metabolism:** MAN2C1 is involved in the regulation of carbohydrate metabolism, which is essential for energy production and cellular signaling. 3. **Lysosomal Oligosaccharide Catabolism:** MAN2C1 is also involved in the degradation of oligosaccharides in lysosomes, which is essential for maintaining cellular homeostasis. 4. **Metal Ion Binding:** MAN2C1 is capable of binding metal ions, which is essential for its enzyme activity and stability. **Clinical Significance:** MAN2C1 has been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). Mutations in the MAN2C1 gene have been associated with these diseases, highlighting the importance of this enzyme in maintaining proper neuronal function. Furthermore, MAN2C1 has been shown to play a critical role in regulating the activity of alpha-mannosidase, which is essential for the degradation of complex carbohydrates. Dysregulation of MAN2C1 has been linked to impaired carbohydrate metabolism, which can have significant consequences for cellular function and overall health. In conclusion, MAN2C1 is a critical regulator of carbohydrate metabolism and neuronal function. Its dysregulation has been implicated in various neurological disorders, highlighting the importance of this enzyme in maintaining proper cellular function. Further research is necessary to fully understand the mechanisms by which MAN2C1 regulates carbohydrate metabolism and neuronal function, and to explore the therapeutic potential of targeting this enzyme in the treatment of neurological diseases.

Genular Protein ID: 1602702841

Symbol: MA2C1_HUMAN

Name: Alpha-mannosidase 2C1

UniProtKB Accession Codes:

Q9NTJ4 H3BMX2 H3BQY8 H3BUT6 Q13358 Q68EM8 Q9UL64

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 4 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 8 Ensembl 4 ExpressionAtlas 1 GO 7 Gene3D 3 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

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: 16848760

Title: Man2C1, an alpha-mannosidase, is involved in the trimming of free oligosaccharides in the cytosol.

PubMed ID: 16848760

DOI: 10.1042/bj20060945

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 35045343

Title: Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

PubMed ID: 35045343

DOI: 10.1016/j.ajhg.2021.12.010

Sequence Information:

  • Length: 1040
  • Mass: 115835
  • Checksum: 2B40AE6E03AC1E3C
  • Sequence:
    • MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT PERLPYQEAV 
QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC WESDGEGLVW RDGEPVQGLT 
KEGEKTSYVL TDRLGERDPR SLTLYVEVAC NGLLGAGKGS MIAAPDPEKM FQLSRAELAV 
FHRDVHMLLV DLELLLGIAK GLGKDNQRSF QALYTANQMV NVCDPAQPET FPVAQALASR 
FFGQHGGESQ HTIHATGHCH IDTAWLWPFK ETVRKCARSW VTALQLMERN PEFIFACSQA 
QQLEWVKSRY PGLYSRIQEF ACRGQFVPVG GTWVEMDGNL PSGEAMVRQF LQGQNFFLQE 
FGKMCSEFWL PDTFGYSAQL PQIMHGCGIR RFLTQKLSWN LVNSFPHHTF FWEGLDGSRV 
LVHFPPGDSY GMQGSVEEVL KTVANNRDKG RANHSAFLFG FGDGGGGPTQ TMLDRLKRLS 
NTDGLPRVQL SSPRQLFSAL ESDSEQLCTW VGELFLELHN GTYTTHAQIK KGNRECERIL 
HDVELLSSLA LARSAQFLYP AAQLQHLWRL LLLNQFHDVV TGSCIQMVAE EAMCHYEDIR 
SHGNTLLSAA AAALCAGEPG PEGLLIVNTL PWKRIEVMAL PKPGGAHSLA LVTVPSMGYA 
PVPPPTSLQP LLPQQPVFVV QETDGSVTLD NGIIRVKLDP TGRLTSLVLV ASGREAIAEG 
AVGNQFVLFD DVPLYWDAWD VMDYHLETRK PVLGQAGTLA VGTEGGLRGS AWFLLQISPN 
SRLSQEVVLD VGCPYVRFHT EVHWHEAHKF LKVEFPARVR SSQATYEIQF GHLQRPTHYN 
TSWDWARFEV WAHRWMDLSE HGFGLALLND CKYGASVRGS ILSLSLLRAP KAPDATADTG 
RHEFTYALMP HKGSFQDAGV IQAAYSLNFP LLALPAPSPA PATSWSAFSV SSPAVVLETV 
KQAESSPQRR SLVLRLYEAH GSHVDCWLHL SLPVQEAILC DLLERPDPAG HLTLRDNRLK 
LTFSPFQVLS LLLVLQPPPH

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.