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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18437 Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu18437C Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. Customized vector On-demand $329.00 12-14

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000119.2, 166362734
Length 2166 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.
Product erythrocyte membrane protein band 4.2 isoform 1
Comment

Summary: Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) encodes the longer isoform (1).

RefSeq NP_000110.2
CDS 301..2466
Misc Feature(1)280..282
Misc Feature(2)403..768
Misc Feature(3)403..768
Misc Feature(4)1171..1446
Misc Feature(5)1813..2130
Misc Feature(6)2152..2442
Exon (1)1..400
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (2)401..586
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (3)587..820
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (4)821..939
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (5)940..1044
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (6)1045..1222
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (7)1223..1361
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (8)1362..1465
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (9)1466..1708
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (10)1709..2008
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (11)2009..2169
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (12)2170..2303
Gene:EPB42
Gene Synonym:PA; SPH5
Exon (13)2304..2541
Gene:EPB42
Gene Synonym:PA; SPH5
Translation MGQGEPSQRSTGLAGLYAAPAASPVFIKGSGMDALGIKSCDFQAARNNEEHHTKALSSRR LFVRRGQPFTIILYFRAPVRAFLPALKKVALTAQTGEQPSKINRTQATFPISSLGDRKWW SAVVEERDAQSWTISVTTPADAVIGHYSLLLQVSGRKQLLLGQFTLLFNPWNREDAVFLK NEAQRMEYLLNQNGLIYLGTADCIQAESWDFGQFEGDVIDLSLRLLSKDKQVEKWSQPVH VARVLGALLHFLKEQRVLPTPQTQATQEGALLNKRRGSVPILRQWLTGRGRPVYDGQAWV LAAVACTVLRCLGIPARVVTTFASAQGTGGRLLIDEYYNEEGLQNGEGQRGRIWIFQTST ECWMTRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRAVKEGTLGLTPAVSDLFAAIN ASCVVWKCCEDGTLELTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLER VEKEKMEREKDNGIRPPSLETASPLYLLLKAPSSLPLRGDAQISVTLVNHSEQEKAVQLA IGVQAVHYNGVLAAKLWRKKLHLTLSANLEKIITIGLFFSNFERNPPENTFLRLTAMATH SESNLSCFAQEDIAICRPHLAIKMPEKAEQYQPLTASVSLQNSLDAPMEDCVISILGRGL IHRERSYRFRSVWPENTMCAKFQFTPTHVGLQRLTVEVDCNMFQNLTNYKSVTVVAPELS A
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Position Chain Variation Link
complement(8)-dbSNP:
complement(8)-, cdbSNP:34559925
complement(40)-c, adbSNP:192614362
complement(59)-g, cdbSNP:142168493
complement(112..113)-, cdbSNP:34561622
complement(148)-t, cdbSNP:188720172
complement(250)-g, adbSNP:16957499
complement(259)-g, adbSNP:377379390
complement(269)-t, cdbSNP:374528475
complement(276)-c, adbSNP:371616142
complement(289)-g, adbSNP:372531519
complement(300)-t, gdbSNP:369104496
complement(316)-g, adbSNP:200354161
complement(320)-t, cdbSNP:376556909
complement(329)-g, adbSNP:77809780
complement(360)-g, adbSNP:183927436
complement(361)-t, cdbSNP:372928280
complement(363)-t, cdbSNP:369552071
complement(370)-g, adbSNP:144428415
complement(389)-t, cdbSNP:149249456
complement(395)-t, adbSNP:138408996
complement(441)-dbSNP:
complement(441)-g, adbSNP:373098812
complement(475)-g, adbSNP:143575715
complement(526)-g, adbSNP:139202348
complement(527)-t, cdbSNP:202154600
complement(538)-g, adbSNP:146769107
complement(539)-t, cdbSNP:368332995
complement(550)-g, adbSNP:375363864
complement(555)-g, cdbSNP:142609781
565+, gdbSNP:266257354
complement(567)-t, cdbSNP:370961712
complement(591)-dbSNP:
complement(591)-t, cdbSNP:114600356
complement(600)-g, adbSNP:180830933
complement(606)-g, cdbSNP:376451325
complement(610)-t, cdbSNP:201099598
complement(646)-c, adbSNP:113768282
complement(650)-c, adbSNP:370209252
complement(719)-g, adbSNP:114463376
720+a, gdbSNP:1042168
complement(743)-g, adbSNP:200509497
complement(744)-t, cdbSNP:188157706
complement(766)-t, adbSNP:148922769
complement(774)-t, cdbSNP:375782290
complement(808)-t, gdbSNP:145732270
complement(823)-dbSNP:
complement(823)-g, cdbSNP:143682977
831+g, tdbSNP:1126529
complement(842)-t, cdbSNP:201889837
complement(843)-g, adbSNP:114136713
complement(853)-g, adbSNP:146473183
complement(888)-g, adbSNP:144110132
complement(899)-g, adbSNP:369606302
complement(946)-dbSNP:
complement(946)-g, cdbSNP:199634098
complement(950)-t, cdbSNP:373666732
complement(970)-g, adbSNP:139182437
complement(971)-t, cdbSNP:146348439
complement(1013)-g, adbSNP:201923886
complement(1014)-t, cdbSNP:142235741
complement(1027)-g, adbSNP:115660852
complement(1028)-t, cdbSNP:370874819
complement(1030)-t, cdbSNP:199833430
complement(1056)-dbSNP:
complement(1056)-g, adbSNP:61737121
complement(1079)-g, adbSNP:369510659
complement(1083)-t, cdbSNP:113737654
complement(1116)-g, cdbSNP:147142632
complement(1131)-t, gdbSNP:115626075
complement(1134)-g, adbSNP:138033246
complement(1135)-t, cdbSNP:368756068
complement(1148)-t, cdbSNP:200979505
complement(1166)-t, cdbSNP:376679347
complement(1203)-g, cdbSNP:202171937
1229+dbSNP:
1229+a, gdbSNP:121917734
complement(1250)-t, cdbSNP:371685912
complement(1284)-g, adbSNP:35719500
complement(1336)-t, cdbSNP:368009876
complement(1343)-c, adbSNP:143974871
complement(1352)-t, cdbSNP:375433672
complement(1362)-dbSNP:
complement(1362)-c, adbSNP:372491352
complement(1369)-g, adbSNP:267604213
complement(1383)-t, cdbSNP:368549543
complement(1389)-t, cdbSNP:201351228
complement(1396)-g, adbSNP:201128283
complement(1397)-t, cdbSNP:374503872
complement(1415)-t, cdbSNP:116484797
complement(1422)-g, adbSNP:150481419
complement(1449)-g, adbSNP:367695497
complement(1496)-dbSNP:
complement(1496)-t, cdbSNP:377204945
complement(1514)-g, adbSNP:115972761
complement(1527)-g, c, adbSNP:113507003
complement(1531)-c, adbSNP:373070550
complement(1555)-t, gdbSNP:141596199
complement(1591)-t, cdbSNP:148289169
complement(1608)-t, cdbSNP:144993665
complement(1669)-g, adbSNP:45594632
complement(1670)-t, cdbSNP:377673168
complement(1674)-g, adbSNP:146700154
complement(1678)-t, cdbSNP:374417752
complement(1763)-dbSNP:
complement(1763)-t, cdbSNP:116008388
complement(1776)-g, adbSNP:199505318
complement(1777)-t, cdbSNP:148871144
complement(1831)-c, adbSNP:368667184
complement(1877)-g, adbSNP:199787216
complement(1936)-t, cdbSNP:370485362
complement(1947)-g, adbSNP:367822703
complement(1954)-t, gdbSNP:145590461
complement(1969)-g, adbSNP:374687434
complement(1992)-t, cdbSNP:149742998
complement(1999)-t, cdbSNP:45495503
complement(2009)-dbSNP:
complement(2009)-t, adbSNP:377523204
complement(2026)-t, cdbSNP:369068948
complement(2034)-g, cdbSNP:375076769
complement(2042)-t, cdbSNP:115014100
complement(2047)-g, c, adbSNP:115998465
complement(2051)-t, cdbSNP:150037117
complement(2061)-g, adbSNP:114345862
complement(2062)-t, cdbSNP:75424023
complement(2076)-g, adbSNP:199778021
complement(2083)-t, gdbSNP:76268277
complement(2085)-g, adbSNP:145043898
complement(2086)-t, cdbSNP:376680136
complement(2088)-g, adbSNP:372410152
complement(2106)-t, cdbSNP:139490049
complement(2157)-t, gdbSNP:114354377
complement(2158)-g, adbSNP:201441200
complement(2186)-dbSNP:
complement(2186)-t, cdbSNP:368010390
2196+g, tdbSNP:80067811
complement(2216)-t, gdbSNP:386519220
2216+g, tdbSNP:11555770
complement(2222)-t, cdbSNP:200182122
complement(2268)-c, adbSNP:375519718
complement(2302)-t, cdbSNP:200820078
complement(2308)-dbSNP:
complement(2308)-g, adbSNP:141228666
complement(2314)-c, adbSNP:372551332
complement(2333)-g, adbSNP:112923134
complement(2354)-g, adbSNP:369127523
complement(2355)-t, cdbSNP:111367706
complement(2365)-t, cdbSNP:376038930
complement(2422)-t, cdbSNP:201674874
complement(2433)-g, adbSNP:144789551
complement(2434)-t, cdbSNP:149419129
complement(2439)-g, adbSNP:138957112
complement(2440)-t, cdbSNP:375723304
complement(2487)-t, adbSNP:201342599
Gene SymbolEPB42
Gene SynonymPA; SPH5
Chromosome15
Locus Map15q15-q21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000119 Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. On-demand $279.00 12-14
NM_000119 Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. On-demand $279.00 12-14
NM_000119 Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. On-demand $279.00 12-14
Title Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1 .
Author Bustos SP and Reithmeier RA.
Journal Biochem. J. 433 (2), 313-322 (2011)
Title Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner .
Author Korsgren C, Peters LL and Lux SE.
Journal J. Biol. Chem. 285 (7), 4757-4770 (2010)
Title Protein 4.2: a complex linker .
Author Satchwell TJ, Shoemark DK, Sessions RB and Toye AM.
Journal Blood Cells Mol. Dis. 42 (3), 201-210 (2009)
Title Associations of protein 4.2 with band 3 and ankyrin .
Author Su Y, Ding Y, Jiang M, Jiang W, Hu X and Zhang Z.
Journal Mol. Cell. Biochem. 289 (1-2), 159-166 (2006)
Title Protein 4.2 is critical to CD47-membrane skeleton attachment in human red cells .
Author Dahl KN, Parthasarathy R, Westhoff CM, Layton DM and Discher DE.
Journal Blood 103 (3), 1131-1136 (2004)
Title EPB42-Related Hereditary Spherocytosis .
Author Kalfa,T.A., Connor,J.A. and Begtrup,A.H.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene .
Author White RA, Peters LL, Adkison LR, Korsgren C, Cohen CM and Lux SE.
Journal Nat. Genet. 2 (1), 80-83 (1992)
Title Human erythrocyte protein 4.2: isoform expression, differential splicing, and chromosomal assignment .
Author Sung LA, Chien S, Fan YS, Lin CC, Lambert K, Zhu L, Lam JS and Chang LS.
Journal Blood 79 (10), 2763-2770 (1992)
Title An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON) .
Author Bouhassira EE, Schwartz RS, Yawata Y, Ata K, Kanzaki A, Qiu JJ, Nagel RL and Rybicki AC.
Journal Blood 79 (7), 1846-1854 (1992)
Title Human erythrocyte protein 4.2, a high copy number membrane protein, is N-myristylated .
Author Risinger MA, Dotimas EM and Cohen CM.
Journal J. Biol. Chem. 267 (8), 5680-5685 (1992)

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