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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

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RefSeq Version NM_001167607.1, 263190473
Length 3480 bp
Structure linear
Update Date 17-APR-2013
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
198+c, tdbSNP:143867953
220+a, gdbSNP:1048719
221+c, gdbSNP:200545376
243+a, tdbSNP:28365994
260+a, gdbSNP:139369020
291+a, gdbSNP:113271740
303+a, gdbSNP:147511920
325+g, tdbSNP:104893897
340+a, gdbSNP:153477
343+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
729+a, gdbSNP:147601669
764+a, gdbSNP:989
768+a, gdbSNP:148662528
792+c, tdbSNP:75026189
893+a, cdbSNP:189626755
898+a, tdbSNP:1048724
901+, cdbSNP:201142293
902+, tdbSNP:35295884
913+g, tdbSNP:78108878
938+a, gdbSNP:116809628
947+c, tdbSNP:181890739
1073+g, tdbSNP:151210034
1166+c, tdbSNP:184763035
1206+a, gdbSNP:140405440
1224+a, cdbSNP:143552628
1247..1248+, tdbSNP:113437403
1247+c, tdbSNP:202239462
1248..1249+, tdbSNP:35982513
1261+c, gdbSNP:112641014
1327+c, tdbSNP:181571430
1361+a, cdbSNP:186626408
1401+c, tdbSNP:191120902
1475+a, gdbSNP:1130163
1481+c, tdbSNP:149174
1547+, tdbSNP:35568032
1550+c, tdbSNP:15860
1767..1768+, adbSNP:71589800
1767+g, tdbSNP:201288211
1768..1769+, adbSNP:35654352
1808+a, tdbSNP:200856540
1809..1810+, cdbSNP:146686627
1809+c, tdbSNP:201799049
1810..1811+, cdbSNP:35550113
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
2403+c, tdbSNP:3806953
2531+a, gdbSNP:12516391
2678+a, gdbSNP:153449
2737+c, tdbSNP:145689253
2967+c, tdbSNP:3734041
3056+a, gdbSNP:138240164
3061+c, tdbSNP:149180405
3121+a, gdbSNP:113128701
3180+g, tdbSNP:114108271
3225..3226+, tdbSNP:34492898
3236+a, gdbSNP:183242789
3250..3252+, taadbSNP:201627590
3251..3254+, aatadbSNP:143203938
3251+, aatadbSNP:71725050
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 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,M.L., Zielinska,B., Gupta,T. and Haut Donahue,T.L.
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 Ganglioside GM2-tetraspanin CD82 complex inhibits met and its cross-talk with integrins, providing a basis for control of cell motility through glycosynapse .
Author Todeschini,A.R., Dos Santos,J.N., Handa,K. and Hakomori,S.I.
Journal J. Biol. Chem. 282 (11), 8123-8133 (2007)
Title Transcriptome analysis of human gastric cancer .
Author Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J., Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and Kim,N.S.
Journal Mamm. Genome 16 (12), 942-954 (2005)
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,J.L., 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,H.C., Li,S.C., Li,Y.T. and Lockyer,J.M.
Journal Biochem. J. 282 (PT 3), 807-813 (1992)
Title A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB .
Author Schroder,M., Schnabel,D., Suzuki,K. and Sandhoff,K.
Journal FEBS Lett. 290 (1-2), 1-3 (1991)
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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