Property Summary

NCBI Gene PubMed Count 46
PubMed Score 105.37
PubTator Score 58.72

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
Tay-Sachs Disease, AB Variant 1
Disease Target Count P-value
tuberculosis 1563 5.79271116723938E-8
malignant mesothelioma 3163 1.13301512493674E-7
ovarian cancer 8492 1.05531215505174E-6
ulcerative colitis 2087 1.54559758194475E-6
medulloblastoma, large-cell 6234 9.22083118774444E-5
osteosarcoma 7933 1.61156669414809E-4
psoriasis 6685 1.96685136411712E-4
Pick disease 1893 2.0177982465226E-4
lung cancer 4473 2.91241732780597E-4
pituitary cancer 1972 5.13620879448185E-4
atypical teratoid / rhabdoid tumor 4369 6.79740025012789E-4
cystic fibrosis 1670 0.00105286755442976
COPD 116 0.00153684868084876
primary Sjogren syndrome 789 0.00335688826084021
cutaneous lupus erythematosus 1056 0.00412773115832896
group 4 medulloblastoma 1875 0.00504225360702278
progressive supranuclear palsy 674 0.00789260112232868
gastric cancer 436 0.0127852551484944
subependymal giant cell astrocytoma 2287 0.0146750220657204
glioblastoma 5572 0.0151869796173465
astrocytoma 1493 0.0163053979779338
esophageal adenocarcinoma 737 0.0176010007179145
urothelial carcinoma 318 0.0396837040673946
Disease Target Count Z-score Confidence
Gangliosidosis 17 0.0 4.0
Disease Target Count Z-score Confidence
Sandhoff disease 3 5.281 2.6
Candidiasis 48 4.326 2.2
inclusion-cell disease 15 3.527 1.8
Disease Target Count
GM2-gangliosidosis AB 1

Expression

  Differential Expression (23)

Disease log2 FC p
gastric cancer -1.700 0.013
urothelial carcinoma -1.100 0.040
malignant mesothelioma -2.400 0.000
esophageal adenocarcinoma -2.100 0.018
psoriasis 2.800 0.000
cutaneous lupus erythematosus 1.200 0.004
osteosarcoma 2.377 0.000
astrocytoma 2.000 0.016
glioblastoma 1.800 0.015
atypical teratoid / rhabdoid tumor 1.200 0.001
medulloblastoma, large-cell 1.200 0.000
tuberculosis 2.100 0.000
lung cancer -1.600 0.000
cystic fibrosis 1.100 0.001
group 4 medulloblastoma -1.100 0.005
primary Sjogren syndrome 1.200 0.003
subependymal giant cell astrocytoma 1.266 0.015
COPD -1.400 0.002
Pick disease -1.300 0.000
progressive supranuclear palsy -1.300 0.008
ulcerative colitis 1.400 0.000
ovarian cancer 2.000 0.000
pituitary cancer 1.700 0.001

Synonym

Accession P17900 B2R699 D3DQH6 Q14426 Q14428 Q6LBL5
Symbols SAP-3
GM2-AP

Gene

PANTHER Protein Class (1)

PDB

1G13   1PU5   1PUB   1TJJ   2AF9   2AG2   2AG4   2AG9  

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

Gene RIF (13)

PMID Text
26175473 Mobilization of membrane lipids by GM2AP was also inhibited in the presence of cholesterol or SM, as revealed by surface plasmon resonance studies
25816011 Gene polymorphisms of MD2 and GM2A were associated with the occurrence or severity of neonatal necrotizing enterocolitis.
23483939 In vitro assays with the isolated H1 or H2 homodimers (beta-alpha hybrid construct of beta-hexosaminidase A subunits) confirmed that neither was capable of human GM2AP-dependent hydrolysis of GM2 ganglioside.
21784073 impact of GM2AP on glucose metabolism
21331553 Treatment of meniscal explants with IL-1RA inhibited the expression of many catabolic genes following a single bout of high dynamic strain.
21036149 these results provide novel insights into the physiological functions of GM2AP in obesity.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18976975 Knockdown of GM2 ganglioside activator (GM2A) by siRNA enhances HIV-1 replication in HeLa P4/R5 cells
17215249 glycosphingolipids, particularly GM2, form a complex with CD82, and this complex interacts with Met and thereby inhibits HGF-induced Met tyrosine kinase activity, as well as integrin to Met cross-talk
15485660 alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A
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AA Sequence

MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMG      1 - 70
STSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPF     71 - 140
KEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI                     141 - 193
//

Text Mined References (48)

PMID Year Title
26175473 2015 Membrane lipids regulate ganglioside GM2 catabolism and GM2 activator protein activity.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25816011 2015 Association of neonatal necrotizing enterocolitis with myeloid differentiation-2 and GM2 activator protein genetic polymorphisms.
23568457 2013 Genetic variants associated with disordered eating.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23483939 2013 In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21784073 2011 Adipokine ganglioside GM2 activator protein stimulates insulin secretion.
21331553 2011 In vitro inhibition of compression-induced catabolic gene expression in meniscal explants following treatment with IL-1 receptor antagonist.
21036149 2010 A novel adipokine GM2AP impairs insulin signaling.
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