Details for: GM2A

Gene ID: 2760

Symbol: GM2A

Ensembl ID: ENSG00000196743

Description: ganglioside GM2 activator

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.82
    Marker Score: 3181
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.66
    Marker Score: 10074
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.56
    Marker Score: 39901
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.49
    Marker Score: 2820
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.42
    Marker Score: 2086
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.4
    Marker Score: 2451
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.39
    Marker Score: 439
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.37
    Marker Score: 2779
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.35
    Marker Score: 564
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.3
    Marker Score: 408
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.23
    Marker Score: 397
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2
    Marker Score: 18776
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.17
    Marker Score: 4610
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.16
    Marker Score: 580
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.13
    Marker Score: 902
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.11
    Marker Score: 62336
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.09
    Marker Score: 657
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.08
    Marker Score: 9310
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.07
    Marker Score: 8318
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.05
    Marker Score: 12214
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251716
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71735
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47960
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30399
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 486
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.94
    Marker Score: 518
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 441
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2714
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.89
    Marker Score: 594
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.88
    Marker Score: 2063
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5253
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 311
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.86
    Marker Score: 719
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.86
    Marker Score: 4910
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.82
    Marker Score: 6140
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.82
    Marker Score: 817
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.8
    Marker Score: 918
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.79
    Marker Score: 1966
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.77
    Marker Score: 308
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 580
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 0.76
    Marker Score: 677
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 0.74
    Marker Score: 240
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 377
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.72
    Marker Score: 762
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.7
    Marker Score: 475
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2923
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.69
    Marker Score: 478
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.69
    Marker Score: 278
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.69
    Marker Score: 765
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.69
    Marker Score: 681
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.69
    Marker Score: 172
  • Cell Name: B-1b B cell (CL0000821)
    Fold Change: 0.68
    Marker Score: 157
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.68
    Marker Score: 689
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 617
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.67
    Marker Score: 2791
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0.67
    Marker Score: 805
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.67
    Marker Score: 1729
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.66
    Marker Score: 872
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.65
    Marker Score: 310
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.64
    Marker Score: 8611
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.64
    Marker Score: 502
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.63
    Marker Score: 478
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.63
    Marker Score: 166
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.63
    Marker Score: 1870
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.62
    Marker Score: 1310
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.62
    Marker Score: 776
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.62
    Marker Score: 153
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.61
    Marker Score: 445
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.6
    Marker Score: 245
  • Cell Name: basophil (CL0000767)
    Fold Change: 0.6
    Marker Score: 283
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.6
    Marker Score: 489
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.59
    Marker Score: 375.5
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.59
    Marker Score: 841.5
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.58
    Marker Score: 514
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.57
    Marker Score: 731
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.56
    Marker Score: 1094
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.56
    Marker Score: 395
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.56
    Marker Score: 195
  • Cell Name: B-1a B cell (CL0000820)
    Fold Change: 0.56
    Marker Score: 133
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.56
    Marker Score: 367
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.55
    Marker Score: 380
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.55
    Marker Score: 321
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.55
    Marker Score: 540
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.55
    Marker Score: 1896
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.55
    Marker Score: 152
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 437
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.54
    Marker Score: 1477
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.54
    Marker Score: 187
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.54
    Marker Score: 140
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.54
    Marker Score: 860
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 0.54
    Marker Score: 355
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.53
    Marker Score: 312
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.53
    Marker Score: 961
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 0.52
    Marker Score: 1094
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.51
    Marker Score: 348.5
  • Cell Name: Langerhans cell (CL0000453)
    Fold Change: 0.5
    Marker Score: 151
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.5
    Marker Score: 174

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Other Information

**Key characteristics:** * GM2A is a glycoprotein with a molecular weight of approximately 120 kDa. * It is expressed in a variety of cell types, including B-1 B cells, macrophages, and endothelial cells. * GM2A is a key regulator of the immune system, and it plays a role in the regulation of inflammation and immune responses. **Pathways and functions:** * GM2A is involved in the beta-n-acetylgalactosaminidase activity, which is a process that breaks down galactose residues from glycoproteins. * It is also involved in the ganglioside catabolic process, which is a process that breaks down ganglioside molecules into smaller molecules. * GM2A is also involved in the glycosphingolipid catabolic process, which is a process that breaks down glycosphingolipids into smaller molecules. * GM2A is also involved in the glycosphingolipid metabolism, which is a process that regulates the levels of glycosphingolipids in the body. **Clinical significance:** GM2A is a gene that is associated with the regulation of inflammation and immune responses. Mutations in the GM2A gene have been linked to a number of autoimmune diseases, including rheumatoid arthritis, lupus, and atherosclerosis. **Additional information:** * GM2A is a member of the GM2 family of glycoproteins. * It is expressed in high levels in the brain and other organs that are involved in inflammation and immune responses. * GM2A is a highly conserved protein, and it is found in mammals from mice to humans.

Genular Protein ID: 3323998985

Symbol: SAP3_HUMAN

Name: Cerebroside sulfate activator protein

UniProtKB Accession Codes:

P17900 B2R699 D3DQH6 Q14426 Q14428 Q6LBL5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 EMBL 14 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 8 PIR 3 PRIDE 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2059210

Title: Isolation and expression of a full-length cDNA encoding the human G-M2 activator protein.

PubMed ID: 2059210

DOI: 10.1016/0006-291x(91)90671-s

PubMed ID: 1915857

Title: Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.

PubMed ID: 1915857

DOI: 10.1016/0014-5793(91)81084-l

PubMed ID: 1554364

Title: Evidence for two cDNAs encoding human GM2-activator protein.

PubMed ID: 1554364

DOI: 10.1042/bj2820807

PubMed ID: 1427911

Title: Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.

PubMed ID: 1427911

DOI: 10.1016/s0888-7543(05)80190-9

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 10364519

Title: Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.

PubMed ID: 10364519

DOI: 10.1086/302463

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: 2753159

Title: Isolation of a cDNA encoding the human GM2 activator protein.

PubMed ID: 2753159

DOI: 10.1016/0014-5793(89)81454-1

PubMed ID: 2209618

Title: The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein.

PubMed ID: 2209618

DOI: 10.1111/j.1432-1033.1990.tb19280.x

PubMed ID: 17552909

Title: Development of an assay for the intermembrane transfer of cholesterol by Niemann-Pick C2 protein.

PubMed ID: 17552909

DOI: 10.1515/bc.2007.063

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 11090283

Title: Crystal structure of human GM2-activator protein with a novel beta-cup topology.

PubMed ID: 11090283

DOI: 10.1006/jmbi.2000.4225

PubMed ID: 1915858

Title: A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.

PubMed ID: 1915858

DOI: 10.1016/0014-5793(91)81211-p

PubMed ID: 8244332

Title: Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.

PubMed ID: 8244332

DOI: 10.1007/bf00216446

PubMed ID: 8900233

Title: Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.

PubMed ID: 8900233

Sequence Information:

  • Length: 193
  • Mass: 20838
  • Checksum: 4EB1119945365F7E
  • Sequence:
    • MQSLMQAPLL IALGLLLAAP AQAHLKKPSQ LSSFSWDNCD EGKDPAVIRS LTLEPDPIIV 
PGNVTLSVMG STSVPLSSPL KVDLVLEKEV AGLWIKIPCT DYIGSCTFEH FCDVLDMLIP 
TGEPCPEPLR TYGLPCHCPF KEGTYSLPKS EFVVPDLELP SWLTTGNYRI ESVLSSSGKR 
LGCIKIAASL KGI

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. For the full schema, download it here.