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GM2A cDNA ORF clone, Homo sapiens (human)

Gene Symbol GM2A
Entrez Gene ID 2760
Full Name GM2 ganglioside activator
Synonyms GM2-AP, SAP-3
General protein information
Preferred Names
ganglioside GM2 activator
Names
ganglioside GM2 activator
shingolipid activator protein 3
sphingolipid activator protein 3
cerebroside sulfate activator protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q33.1

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]. lac of sum
Disorder MIM:

613109

Disorder Html: GM2-gangliosidosis, AB variant, 272750 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_000405 NP_000396 ganglioside GM2 activator isoform 1 precursor
NM_001167607 NP_001161079 ganglioside GM2 activator isoform 2 precursor



Homo sapiens (human) GM2A NP_000396.2
Pan troglodytes (chimpanzee) GM2A XP_003950707.1
Macaca mulatta (Rhesus monkey) LOC713375 XP_001109570.1
Canis lupus familiaris (dog) GM2A XP_003639059.1
Bos taurus (cattle) GM2A NP_001192476.1
Mus musculus (house mouse) Gm2a NP_034429.1
Rattus norvegicus (Norway rat) Gm2a NP_758838.2
Gallus gallus (chicken) GM2A XP_003642107.2
Danio rerio (zebrafish) gm2a NP_001017831.1
Xenopus (Silurana) tropicalis (western clawed frog) gm2a NP_001017081.1
Xenopus (Silurana) tropicalis (western clawed frog) LOC100495195 XP_002932357.2


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following GM2A gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the GM2A cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu26321
NM_000405 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$49.50-$69.30
$99.00
OHu27665 NM_001167607 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu26321
Clone ID Related Accession (Same CDS sequence) NM_000405
Accession Version NM_000405.4 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 582bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product ganglioside GM2 activator isoform 1 precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM834780.1, X61095.1 and AC008385.7. This sequence is a reference standard in the RefSeqGene project. On May 24, 2008 this sequence version replaced gi:39995108. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X62078.1, BC009273.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
ATGCAGTCCC TGATGCAGGC TCCCCTCCTG ATCGCCCTGG GCTTGCTTCT CGCGGCCCCT 
GCGCAAGCCC ACCTGAAAAA GCCATCCCAG CTCAGTAGCT TTTCCTGGGA TAACTGTGAT
GAAGGGAAGG ACCCTGCGGT GATCAGAAGC CTGACTCTGG AGCCTGACCC CATCATCGTT
CCTGGAAATG TGACCCTCAG TGTCATGGGC AGCACCAGTG TCCCCCTGAG TTCTCCTCTG
AAGGTGGATT TAGTTTTGGA GAAGGAGGTG GCTGGCCTCT GGATCAAGAT CCCATGCACA
GACTACATTG GCAGCTGTAC CTTTGAACAC TTCTGTGATG TGCTTGACAT GTTAATTCCT
ACTGGGGAGC CCTGCCCAGA GCCCCTGCGT ACCTATGGGC TTCCTTGCCA CTGTCCCTTC
AAAGAAGGAA CCTACTCACT GCCCAAGAGC GAATTCGTTG TGCCTGACCT GGAGCTGCCC
AGTTGGCTCA CCACCGGGAA CTACCGCATA GAGAGCGTCC TGAGCAGCAG TGGGAAGCGT
CTGGGCTGCA TCAAGATCGC TGCCTCTCTA AAGGGCATAT AA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000396.2
CDS166..747
Misc Feature(1)139..141(+)
Misc Feature(2)259..744(+)
Misc Feature(3)265..735(+)
Misc Feature(4)280..714(+)
Misc Feature(5)460..483(+)
Misc Feature(6)499..579(+)
Misc Feature(7)538..573(+)
Exon (1)1..246
Gene:GM2A
Gene Synonym:
Exon (2)247..408
Gene:GM2A
Gene Synonym:
Exon (3)409..591
Gene:GM2A
Gene Synonym:
Exon (4)592..3690
Gene:GM2A
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000405
Organism Homo sapiens (human)
Definition Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000405

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
ATGCAGTCCC TGATGCAGGC TCCCCTCCTG ATCGCCCTGG GCTTGCTTCT CGCGGCCCCT 
GCGCAAGCCC ACCTGAAAAA GCCATCCCAG CTCAGTAGCT TTTCCTGGGA TAACTGTGAT
GAAGGGAAGG ACCCTGCGGT GATCAGAAGC CTGACTCTGG AGCCTGACCC CATCATCGTT
CCTGGAAATG TGACCCTCAG TGTCATGGGC AGCACCAGTG TCCCCCTGAG TTCTCCTCTG
AAGGTGGATT TAGTTTTGGA GAAGGAGGTG GCTGGCCTCT GGATCAAGAT CCCATGCACA
GACTACATTG GCAGCTGTAC CTTTGAACAC TTCTGTGATG TGCTTGACAT GTTAATTCCT
ACTGGGGAGC CCTGCCCAGA GCCCCTGCGT ACCTATGGGC TTCCTTGCCA CTGTCCCTTC
AAAGAAGGAA CCTACTCACT GCCCAAGAGC GAATTCGTTG TGCCTGACCT GGAGCTGCCC
AGTTGGCTCA CCACCGGGAA CTACCGCATA GAGAGCGTCC TGAGCAGCAG TGGGAAGCGT
CTGGGCTGCA TCAAGATCGC TGCCTCTCTA AAGGGCATAT AA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu27665
Clone ID Related Accession (Same CDS sequence) NM_001167607
Accession Version NM_001167607.1 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 561bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product ganglioside GM2 activator isoform 2 precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC008385.7. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK298867.1, DC366588.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
ATGCAGTCCC TGATGCAGGC TCCCCTCCTG ATCGCCCTGG GCTTGCTTCT CGCGGCCCCT 
GCGCAAGCCC ACCTGAAAAA GCCATCCCAG CTCAGTAGCT TTTCCTGGGA TAACTGTGAT
GAAGGGAAGG ACCCTGCGGT GATCAGAAGC CTGACTCTGG AGCCTGACCC CATCATCGTT
CCTGGAAATG TGACCCTCAG TGTCATGGGC AGCACCAGTG TCCCCCTGAG TTCTCCTCTG
AAGGTGGATT TAGTTTTGGA GAAGGAGGTG GCTGGCCTCT GGATCAAGAT CCCATGCACA
GACTACATTG GCAGCTGTAC CTTTGAACAC TTCTGTGATG TGCTTGACAT GTTAATTCCT
ACTGGGGAGC CCTGCCCAGA GCCCCTGCGT ACCTATGGGC TTCCTTGCCA CTGTCCCTTT
TCCTCTGTTT TGTGTTTGCC AAGGCCAAAC TCCCACTCTC TGCCCCCCTT TAATCCCCTT
TCTACAGTGA GTCCACTACC CTCACTGAAA ATCATTTTGT ACCACTTACA TTTTAGGCTG
GGGCAAGCAG CCCTGACCTA A

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001161079.1
CDS166..726
Misc Feature(1)139..141(+)
Misc Feature(2)259..>585(+)
Misc Feature(3)271..585(+)
Exon (1)1..246
Gene:GM2A
Gene Synonym:
Exon (2)247..408
Gene:GM2A
Gene Synonym:
Exon (3)409..577
Gene:GM2A
Gene Synonym:
Exon (4)578..3480
Gene:GM2A
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001167607
Organism Homo sapiens (human)
Definition Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001167607

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
ATGCAGTCCC TGATGCAGGC TCCCCTCCTG ATCGCCCTGG GCTTGCTTCT CGCGGCCCCT 
GCGCAAGCCC ACCTGAAAAA GCCATCCCAG CTCAGTAGCT TTTCCTGGGA TAACTGTGAT
GAAGGGAAGG ACCCTGCGGT GATCAGAAGC CTGACTCTGG AGCCTGACCC CATCATCGTT
CCTGGAAATG TGACCCTCAG TGTCATGGGC AGCACCAGTG TCCCCCTGAG TTCTCCTCTG
AAGGTGGATT TAGTTTTGGA GAAGGAGGTG GCTGGCCTCT GGATCAAGAT CCCATGCACA
GACTACATTG GCAGCTGTAC CTTTGAACAC TTCTGTGATG TGCTTGACAT GTTAATTCCT
ACTGGGGAGC CCTGCCCAGA GCCCCTGCGT ACCTATGGGC TTCCTTGCCA CTGTCCCTTT
TCCTCTGTTT TGTGTTTGCC AAGGCCAAAC TCCCACTCTC TGCCCCCCTT TAATCCCCTT
TCTACAGTGA GTCCACTACC CTCACTGAAA ATCATTTTGT ACCACTTACA TTTTAGGCTG
GGGCAAGCAG CCCTGACCTA A

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Genetic variants associated with disordered eating
Int J Eat Disord 46 (6), 594-608 (2013)
Wade TD, Gordon S, Medland S, Bulik CM, Heath AC, Montgomery GW and Martin NG.


book

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
PLoS ONE 8 (3), E57908 (2013)
Sinici I, Yonekawa S, Tkachyova I, Gray SJ, Samulski RJ, Wakarchuk W, Mark BL and Mahuran DJ.


book

Adipokine ganglioside GM2 activator protein stimulates insulin secretion
FEBS Lett. 585 (16), 2587-2591 (2011)
Higashi K, Kubo H, Watanabe H, Fujimori K, Mikami T and Kaneko H.


book

In vitro inhibition of compression-induced catabolic gene expression in meniscal explants following treatment with IL-1 receptor antagonist
J Orthop Sci 16 (2), 212-220 (2011)
Killian ML, Zielinska B, Gupta T and Haut Donahue TL.


book

A novel adipokine GM2AP impairs insulin signaling
Biochem. Biophys. Res. Commun. 402 (3), 571-576 (2010)
Higashi K, Mikami T, Yamada T, Kawashima H, Kimura T and Kaneko H.


book

Dystonia Overview
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Klein,C., Marras,C. and Munchau,A.


book

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
Genomics 14 (3), 796-798 (1992)
Xie B, Kennedy JL, McInnes B, Auger D and Mahuran D.


book

Evidence for two cDNA clones encoding human GM2-activator protein
Biochem. J. 282 (PT 3), 807-813 (1992)
Nagarajan S, Chen HC, Li SC, Li YT and Lockyer JM.


book

Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein
FEBS Lett. 289 (2), 260-264 (1991)
Klima H, Tanaka A, Schnabel D, Nakano T, Schroder M, Suzuki K and Sandhoff K.


book

Evidence for the presence of two separate protein activators for the enzymic hydrolysis of GM1 and GM2 gangliosides
J. Biol. Chem. 254 (21), 10592-10595 (1979)
Li,S.C., Nakamura,T., Ogamo,A. and Li,Y.T.


 
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