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Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001167607 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $399.00 14

*Business Day

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RefSeq Version NM_001167607.1, 263190473
Length 3480 bp
Structure linear
Update Date 26-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA.
Product ganglioside GM2 activator isoform 2 precursor
Comment

Summary: This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009].


Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_001161079.1
CDS 166..726
Misc Feature(1)139..141
Misc Feature(2)259..>585
Misc Feature(3)order(271..273,307..309,316..318,322..324,337..339,
Exon (1)1..246
Gene:GM2A
Gene Synonym:GM2-AP; SAP-3
Exon (2)247..408
Gene:GM2A
Gene Synonym:GM2-AP; SAP-3
Exon (3)409..577
Gene:GM2A
Gene Synonym:GM2-AP; SAP-3
Exon (4)578..3480
Gene:GM2A
Gene Synonym:GM2-AP; SAP-3
Translation MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIV PGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIP TGEPCPEPLRTYGLPCHCPFSSVLCLPRPNSHSLPPFNPLSTVSPLPSLKIILYHLHFRL GQAALT
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Position Chain Variation Link
64+dbSNP:
64+a, gdbSNP:2277028
122+a, gdbSNP:144932594
125+a, tdbSNP:1048718
128+a, gdbSNP:367935217
159+a, cdbSNP:371628812
198+c, tdbSNP:143867953
204+a, gdbSNP:374161170
220+a, gdbSNP:1048719
221+c, gdbSNP:200545376
243+a, tdbSNP:28365994
255+g, tdbSNP:371296403
260+a, gdbSNP:139369020
291+a, gdbSNP:113271740
298+a, cdbSNP:375909851
303+a, gdbSNP:147511920
325+g, tdbSNP:104893897
340+a, gdbSNP:153477
343+a, g, tdbSNP:201829650
347+c, gdbSNP:141199254
370+a, gdbSNP:153478
395+a, gdbSNP:201633382
409+dbSNP:
409+c, gdbSNP:139014924
419+g, tdbSNP:143999954
426+a, gdbSNP:201066568
433+c, gdbSNP:202199250
504+c, tdbSNP:202019098
511+c, gdbSNP:145111469
577+c, tdbSNP:137852797
681+dbSNP:
681+c, tdbSNP:9324686
694+c, tdbSNP:375810746
702+g, tdbSNP:369948657
729+a, gdbSNP:147601669
757+c, tdbSNP:372430796
764+a, gdbSNP:989
764+c, tdbSNP:386431106
768+a, gdbSNP:148662528
778+c, tdbSNP:377505668
792+c, tdbSNP:75026189
794+, cdbSNP:376979280
893+a, cdbSNP:189626755
898+a, tdbSNP:1048724
901+, cdbSNP:201142293
902+, tdbSNP:35295884
912+, tdbSNP:398084556
913+g, tdbSNP:78108878
913+, tdbSNP:397712620
938+a, gdbSNP:116809628
947+c, tdbSNP:181890739
948+a, gdbSNP:375874064
963+c, tdbSNP:370699960
1073+g, tdbSNP:151210034
1127+g, tdbSNP:374360638
1166+c, tdbSNP:184763035
1206+a, gdbSNP:140405440
1224+a, cdbSNP:143552628
1247..1248+, tdbSNP:35982513
1247+c, tdbSNP:202239462
1260..1261+, tdbSNP:397884529
1261+c, gdbSNP:112641014
1261+g, tcdbSNP:370553515
1327+c, tdbSNP:181571430
1361+a, cdbSNP:186626408
1397+c, tdbSNP:368971605
1401+c, tdbSNP:191120902
1475+a, gdbSNP:1130163
1481+c, tdbSNP:149174
1550+c, tdbSNP:15860
1551+, tdbSNP:35568032
1767..1768+, adbSNP:35654352
1767+g, tdbSNP:201288211
1776..1777+, adbSNP:397883774
1808+a, tdbSNP:200856540
1809..1810+, cdbSNP:35550113
1809+c, tdbSNP:201799049
1810..1811+, cdbSNP:397792840
1811..1812+, cdbSNP:397716595
1939+c, gdbSNP:146782771
1947+a, cdbSNP:181014044
1982+a, gdbSNP:153450
2018+g, tdbSNP:11262
2099+c, tdbSNP:185065661
2232+a, cdbSNP:115956086
2309+a, tdbSNP:140540848
2318+a, tdbSNP:191050130
2366+c, tdbSNP:3806952
2401+a, cdbSNP:371212055
2403+c, tdbSNP:3806953
2444+a, gdbSNP:372489813
2531+a, gdbSNP:12516391
complement(2678)-g, adbSNP:153449
2737+c, tdbSNP:145689253
2738+a, gdbSNP:375679727
2967+c, tdbSNP:3734041
3056+a, gdbSNP:138240164
3061+c, tdbSNP:149180405
3121+a, gdbSNP:113128701
3180+g, tdbSNP:114108271
3226..3227+, tdbSNP:34492898
3236+a, gdbSNP:183242789
3237..3238+, tdbSNP:376393704
3250..3252+, taadbSNP:201627590
3251..3254+, aatadbSNP:143203938
3254..3257+, aaatdbSNP:35384604
3254+a, gdbSNP:200150752
3304+c, tdbSNP:117832237
3338+a, gdbSNP:111935946
3386+a, gdbSNP:10076053
3433+c, tdbSNP:143342609
Gene SymbolGM2A
Gene SynonymGM2-AP; SAP-3
Chromosome5
Locus Map5q33.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000405 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA. On-demand $399.00 14
NM_001167607 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA. On-demand $399.00 14
Title Genetic variants associated with disordered eating .
Author Wade TD, Gordon S, Medland S, Bulik CM, Heath AC, Montgomery GW and Martin NG.
Journal Int J Eat Disord 46 (6), 594-608 (2013)
Title 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 .
Author Sinici I, Yonekawa S, Tkachyova I, Gray SJ, Samulski RJ, Wakarchuk W, Mark BL and Mahuran DJ.
Journal PLoS ONE 8 (3), E57908 (2013)
Title Adipokine ganglioside GM2 activator protein stimulates insulin secretion .
Author Higashi K, Kubo H, Watanabe H, Fujimori K, Mikami T and Kaneko H.
Journal FEBS Lett. 585 (16), 2587-2591 (2011)
Title In vitro inhibition of compression-induced catabolic gene expression in meniscal explants following treatment with IL-1 receptor antagonist .
Author Killian ML, Zielinska B, Gupta T and Haut Donahue TL.
Journal J Orthop Sci 16 (2), 212-220 (2011)
Title A novel adipokine GM2AP impairs insulin signaling .
Author Higashi K, Mikami T, Yamada T, Kawashima H, Kimura T and Kaneko H.
Journal Biochem. Biophys. Res. Commun. 402 (3), 571-576 (2010)
Title Dystonia Overview .
Author Klein,C., Marras,C. and Munchau,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
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 .
Author Xie B, Kennedy JL, McInnes B, Auger D and Mahuran D.
Journal Genomics 14 (3), 796-798 (1992)
Title Evidence for two cDNA clones encoding human GM2-activator protein .
Author Nagarajan S, Chen HC, Li SC, Li YT and Lockyer JM.
Journal Biochem. J. 282 (PT 3), 807-813 (1992)
Title Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein .
Author Klima H, Tanaka A, Schnabel D, Nakano T, Schroder M, Suzuki K and Sandhoff K.
Journal FEBS Lett. 289 (2), 260-264 (1991)
Title Evidence for the presence of two separate protein activators for the enzymic hydrolysis of GM1 and GM2 gangliosides .
Author Li,S.C., Nakamura,T., Ogamo,A. and Li,Y.T.
Journal J. Biol. Chem. 254 (21), 10592-10595 (1979)

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