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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.


RefSeq Accession Definition Services Price Order
NM_013382 Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA. ORF Sequence $653.37
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_013382.5, 209870109
Length 4874 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.
Product protein O-mannosyl-transferase 2
Comment

Summary: The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_037514.2
CDS 202..2454
Misc Feature(1)85..87
Misc Feature(2)349..2451
Misc Feature(3)349..2451
Misc Feature(4)361..423
Misc Feature(5)388..1119
Misc Feature(6)499..561
Misc Feature(7)637..699
Misc Feature(8)772..834
Misc Feature(9)892..954
Misc Feature(10)1048..1110
Misc Feature(11)1201..1371
Misc Feature(12)1411..1578
Misc Feature(13)1615..1764
Misc Feature(14)1987..2049
Misc Feature(15)2128..2190
Misc Feature(16)2194..2256
Misc Feature(17)2299..2361
Exon (1)1..449
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (2)450..534
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (3)535..639
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (4)640..748
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (5)749..857
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (6)858..1017
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (7)1018..1124
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (8)1125..1207
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (9)1208..1317
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (10)1318..1384
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (11)1385..1454
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (12)1455..1533
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (13)1534..1685
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (14)1686..1777
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (15)1778..1854
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (16)1855..1926
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (17)1927..1986
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (18)1987..2092
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (19)2093..2233
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (20)2234..2348
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Exon (21)2349..4874
Gene:POMT2
Gene Synonym:LGMD2N; MDDGA2; MDDGB2; MDDGC2
Translation MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWAL LALVTLLSFATRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYL SGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALL TFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAV HFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRH LYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETS RNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLV TGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPE ILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWL NLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRV LYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLF HPLAYGMVGPLAQDPQSPMAGLRWLDSWDF
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Position Chain Variation Link
complement(33)-dbSNP:
complement(33)-t, gdbSNP:12881878
complement(74)-g, adbSNP:116224770
complement(78)-t, cdbSNP:147337187
complement(138)-t, cdbSNP:2270421
complement(141)-t, cdbSNP:143832366
complement(230)-g, adbSNP:183558313
complement(267)-g, adbSNP:200670377
complement(362)-t, gdbSNP:8177536
complement(363)-c, adbSNP:2270420
complement(399)-g, cdbSNP:141102153
complement(430)-t, cdbSNP:200992827
complement(433)-g, cdbSNP:151103906
complement(438)-t, cdbSNP:201322445
complement(496)-dbSNP:
complement(496)-g, adbSNP:199719668
complement(598)-dbSNP:
complement(598)-t, cdbSNP:143816609
complement(625)-t, cdbSNP:148938943
752+dbSNP:
752+c, tdbSNP:267606971
794+a, tdbSNP:267606972
complement(849)-g, adbSNP:147871747
complement(850)-t, cdbSNP:144748043
complement(852)-g, adbSNP:147845081
complement(853)-t, cdbSNP:140785104
complement(873)-dbSNP:
complement(873)-g, adbSNP:147619625
938+a, gdbSNP:267606966
complement(987)-t, cdbSNP:200542239
complement(1030)-dbSNP:
complement(1030)-t, cdbSNP:149920797
complement(1045)-g, adbSNP:200204831
complement(1136)-dbSNP:
complement(1136)-t, gdbSNP:12885908
complement(1137)-g, adbSNP:186690580
complement(1191)-c, adbSNP:139202802
complement(1246)-dbSNP:
complement(1246)-g, adbSNP:141339355
1258+a, gdbSNP:267606970
complement(1295)-t, cdbSNP:139830891
1318+dbSNP:
1318+g, tdbSNP:267606965
complement(1393)-dbSNP:
complement(1393)-g, cdbSNP:145933402
complement(1396)-g, adbSNP:200821647
complement(1407)-t, gdbSNP:142479943
complement(1439)-g, cdbSNP:190285831
complement(1451)-t, cdbSNP:147268052
complement(1463)-dbSNP:
complement(1463)-t, cdbSNP:151078549
complement(1493)-g, adbSNP:188822248
complement(1521)-g, adbSNP:143342682
complement(1522)-t, cdbSNP:199743727
complement(1584)-dbSNP:
complement(1584)-t, cdbSNP:2270419
complement(1585)-t, cdbSNP:17852978
complement(1598)-t, cdbSNP:138266415
complement(1605)-t, cdbSNP:150491326
complement(1625)-t, cdbSNP:200976246
1646+g, tdbSNP:267606968
complement(1656)-t, cdbSNP:201326532
complement(1664)-g, adbSNP:199655504
complement(1698)-dbSNP:
complement(1698)-t, cdbSNP:141248257
complement(1729)-t, cdbSNP:186872560
complement(1738)-t, cdbSNP:117173425
complement(1743)-g, adbSNP:182595587
complement(1753)-t, cdbSNP:200762716
complement(1794)-dbSNP:
complement(1794)-t, cdbSNP:147934334
complement(1805)-t, adbSNP:147882035
complement(1838..1839)-, gdbSNP:35646948
complement(1838)-t, gdbSNP:201487818
complement(1884)-dbSNP:
complement(1884)-g, adbSNP:146307965
complement(1892)-g, adbSNP:142445941
complement(1893)-t, cdbSNP:183828175
complement(1902)-g, cdbSNP:151051452
complement(1922)-t, cdbSNP:142870987
complement(1933)-dbSNP:
complement(1933)-g, adbSNP:148466370
complement(1986)-t, cdbSNP:202237807
complement(2004)-dbSNP:
complement(2004)-g, adbSNP:145557452
complement(2017)-t, cdbSNP:201117837
complement(2067)-t, cdbSNP:149753126
complement(2082)-t, cdbSNP:146588608
complement(2088)-c, adbSNP:145942005
complement(2089)-c, adbSNP:111857094
complement(2104)-dbSNP:
complement(2104)-t, cdbSNP:142299878
complement(2112)-t, gdbSNP:3209079
complement(2113)-t, cdbSNP:119463989
complement(2121)-g, adbSNP:150755807
complement(2134)-g, adbSNP:201358407
complement(2136)-g, adbSNP:141193672
2142+a, gdbSNP:267606963
complement(2145)-t, cdbSNP:148146976
complement(2150)-t, cdbSNP:143747653
complement(2179)-c, adbSNP:200690151
complement(2193)-g, adbSNP:143329994
complement(2198)-t, cdbSNP:200198778
complement(2212)-g, adbSNP:200079313
complement(2258)-dbSNP:
complement(2258)-t, cdbSNP:200163818
complement(2284)-t, adbSNP:139308429
complement(2287)-t, gdbSNP:76700503
complement(2302)-t, cdbSNP:146367996
complement(2306)-t, cdbSNP:142381375
complement(2328)-t, cdbSNP:138142899
complement(2331)-g, adbSNP:150438588
complement(2376)-dbSNP:
complement(2376)-g, adbSNP:116434191
2378+a, gdbSNP:267606969
2443+c, tdbSNP:267606964
2444+c, gdbSNP:267606967
complement(2529)-t, cdbSNP:1055592
complement(2630)-g, adbSNP:143803905
complement(2683)-g, cdbSNP:11547792
complement(2745)-t, cdbSNP:149008631
complement(2856)-t, cdbSNP:145688924
complement(2991)-g, adbSNP:111886247
complement(3041)-t, cdbSNP:10141995
complement(3049)-g, adbSNP:114926981
complement(3055)-t, cdbSNP:150190025
complement(3059)-g, adbSNP:186897393
complement(3060)-t, cdbSNP:141262145
complement(3092)-g, cdbSNP:45459800
complement(3153)-g, adbSNP:146570158
complement(3244)-t, cdbSNP:7159558
complement(3291)-g, cdbSNP:181520065
complement(3512)-t, cdbSNP:11624564
complement(3541)-g, adbSNP:59725094
complement(3582)-c, adbSNP:189013742
complement(3591)-t, cdbSNP:7158951
complement(3743)-g, adbSNP:186062696
complement(3771)-t, cdbSNP:144329117
complement(3791)-g, adbSNP:45561437
complement(3892)-c, adbSNP:181899257
complement(3955)-t, cdbSNP:4141640
complement(3970)-t, cdbSNP:45518539
complement(4057)-g, adbSNP:139267307
complement(4095)-g, adbSNP:151201281
complement(4104)-t, adbSNP:142194129
complement(4178)-g, adbSNP:45510397
complement(4196)-t, c, adbSNP:12894594
complement(4202)-t, g, c, adbSNP:45458096
complement(4210)-g, adbSNP:148688355
complement(4258)-g, adbSNP:188108040
complement(4259)-t, cdbSNP:184473107
complement(4306)-c, adbSNP:144193641
complement(4347)-t, cdbSNP:114623446
complement(4421)-g, adbSNP:11547794
complement(4428)-t, cdbSNP:11159254
complement(4471)-g, adbSNP:181244931
complement(4483)-t, cdbSNP:143398375
complement(4545)-c, adbSNP:139493728
complement(4574)-g, adbSNP:147370118
complement(4605)-t, cdbSNP:45579739
complement(4779)-t, cdbSNP:11547793
complement(4822..4823)-, tdbSNP:61505646
complement(4823..4824)-, tdbSNP:113216374
complement(4823)-, tdbSNP:146545409
Gene SymbolPOMT2
Gene SynonymLGMD2N; MDDGA2; MDDGB2; MDDGC2
Chromosome14
Locus Map14q24
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_013382 Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA. Full Length $1705.90
ORF Sequence $653.37
Title Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2 .
Author Akasaka-Manya,K., Manya,H., Hayashi,M. and Endo,T.
Journal Biochem. Biophys. Res. Commun. 411 (4), 721-725 (2011)
Title Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2 .
Author Manya,H., Akasaka-Manya,K., Nakajima,A., Kawakita,M. and Endo,T.
Journal J. Biochem. 147 (3), 337-344 (2010)
Title POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies .
Author Endo,T., Manya,H., Seta,N. and Guicheney,P.
Journal Meth. Enzymol. 479, 343-352 (2010)
Title POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation .
Author Yanagisawa,A., Bouchet,C., Quijano-Roy,S., Vuillaumier-Barrot,S., Clarke,N., Odent,S., Rodriguez,D., Romero,N.B., Osawa,M., Endo,T., Taratuto,A.L., Seta,N. and Guicheney,P.
Journal Eur J Med Genet 52 (4), 201-206 (2009)
Title Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study .
Author Mercuri,E., Messina,S., Bruno,C., Mora,M., Pegoraro,E., Comi,G.P., D'Amico,A., Aiello,C., Biancheri,R., Berardinelli,A., Boffi,P., Cassandrini,D., Laverda,A., Moggio,M., Morandi,L., Moroni,I., Pane,M., Pezzani,R., Pichiecchio,A., Pini,A., Minetti,C., Mongini,T., Mottarelli,E., Ricci,E., Ruggieri,A., Saredi,S., Scuderi,C., Tessa,A., Toscano,A., Tortorella,G., Trevisan,C.P., Uggetti,C., Vasco,G., Santorelli,F.M. and Bertini,E.
Journal Neurology 72 (21), 1802-1809 (2009)
Title POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome .
Author van Reeuwijk,J., Janssen,M., van den Elzen,C., Beltran-Valero de Bernabe,D., Sabatelli,P., Merlini,L., Boon,M., Scheffer,H., Brockington,M., Muntoni,F., Huynen,M.A., Verrips,A., Walsh,C.A., Barth,P.G., Brunner,H.G. and van Bokhoven,H.
Journal J. Med. Genet. 42 (12), 907-912 (2005)
Title Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity .
Author Manya,H., Chiba,A., Yoshida,A., Wang,X., Chiba,Y., Jigami,Y., Margolis,R.U. and Endo,T.
Journal Proc. Natl. Acad. Sci. U.S.A. 101 (2), 500-505 (2004)
Title The DNA sequence and analysis of human chromosome 14 .
Author Heilig,R., Eckenberg,R., Petit,J.L., Fonknechten,N., Da Silva,C., Cattolico,L., Levy,M., Barbe,V., de Berardinis,V., Ureta-Vidal,A., Pelletier,E., Vico,V., Anthouard,V., Rowen,L., Madan,A., Qin,S., Sun,H., Du,H., Pepin,K., Artiguenave,F., Robert,C., Cruaud,C., Bruls,T., Jaillon,O., Friedlander,L., Samson,G., Brottier,P., Cure,S., Segurens,B., Aniere,F., Samain,S., Crespeau,H., Abbasi,N., Aiach,N., Boscus,D., Dickhoff,R., Dors,M., Dubois,I., Friedman,C., Gouyvenoux,M., James,R., Madan,A., Mairey-Estrada,B., Mangenot,S., Martins,N., Menard,M., Oztas,S., Ratcliffe,A., Shaffer,T., Trask,B., Vacherie,B., Bellemere,C., Belser,C., Besnard-Gonnet,M., Bartol-Mavel,D., Boutard,M., Briez-Silla,S., Combette,S., Dufosse-Laurent,V., Ferron,C., Lechaplais,C., Louesse,C., Muselet,D., Magdelenat,G., Pateau,E., Petit,E., Sirvain-Trukniewicz,P., Trybou,A., Vega-Czarny,N., Bataille,E., Bluet,E., Bordelais,I., Dubois,M., Dumont,C., Guerin,T., Haffray,S., Hammadi,R., Muanga,J., Pellouin,V., Robert,D., Wunderle,E., Gauguet,G., Roy,A., Sainte-Marthe,L., Verdier,J., Verdier-Discala,C., Hillier,L., Fulton,L., McPherson,J., Matsuda,F., Wilson,R., Scarpelli,C., Gyapay,G., Wincker,P., Saurin,W., Quetier,F., Waterston,R., Hood,L. and Weissenbach,J.
Journal Nature 421 (6923), 601-607 (2003)
Title Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids .
Author Willer,T., Amselgruber,W., Deutzmann,R. and Strahl,S.
Journal Glycobiology 12 (11), 771-783 (2002)
Title Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family .
Author Fukuda,S., Sumii,M., Masuda,Y., Takahashi,M., Koike,N., Teishima,J., Yasumoto,H., Itamoto,T., Asahara,T., Dohi,K. and Kamiya,K.
Journal Biochem. Biophys. Res. Commun. 280 (1), 407-414 (2001)

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