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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000119 Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_000119.2, 166362734
Length 2554 bp
Structure linear
Update Date 17-APR-2013
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)1819..2127
Misc Feature(6)2158..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(113..114)-, cdbSNP:34561622
complement(148)-t, cdbSNP:188720172
complement(250)-g, adbSNP:16957499
complement(316)-g, adbSNP:200354161
complement(329)-g, adbSNP:77809780
complement(360)-g, adbSNP:183927436
complement(370)-g, adbSNP:144428415
complement(389)-t, cdbSNP:149249456
complement(395)-t, adbSNP:138408996
complement(475)-dbSNP:
complement(475)-g, adbSNP:143575715
complement(526)-g, adbSNP:139202348
complement(527)-t, cdbSNP:202154600
complement(538)-g, adbSNP:146769107
complement(555)-g, cdbSNP:142609781
complement(565)-, gdbSNP:266257354
complement(591)-dbSNP:
complement(591)-t, cdbSNP:114600356
complement(600)-g, adbSNP:180830933
complement(610)-t, cdbSNP:201099598
complement(646)-c, adbSNP:113768282
complement(719)-g, adbSNP:114463376
complement(720)-g, adbSNP:1042168
complement(724)-g, adbSNP:104894487
complement(743)-g, adbSNP:200509497
complement(744)-t, cdbSNP:188157706
complement(766)-t, adbSNP:148922769
complement(808)-t, gdbSNP:145732270
complement(823)-dbSNP:
complement(823)-g, cdbSNP:143682977
complement(831)-t, gdbSNP:1126529
complement(842)-t, cdbSNP:201889837
complement(843)-g, adbSNP:114136713
complement(853)-g, adbSNP:146473183
complement(888)-g, adbSNP:144110132
complement(946)-dbSNP:
complement(946)-g, cdbSNP:199634098
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(1030)-t, cdbSNP:199833430
complement(1056)-dbSNP:
complement(1056)-g, adbSNP:61737121
complement(1083)-t, cdbSNP:113737654
complement(1116)-g, cdbSNP:147142632
complement(1131)-t, gdbSNP:115626075
complement(1134)-g, adbSNP:138033246
complement(1148)-t, cdbSNP:200979505
complement(1203)-g, cdbSNP:202171937
complement(1229)-dbSNP:
complement(1229)-g, adbSNP:121917734
complement(1284)-g, adbSNP:35719500
complement(1343)-c, adbSNP:143974871
complement(1389)-dbSNP:
complement(1389)-t, cdbSNP:201351228
complement(1396)-g, adbSNP:201128283
complement(1415)-t, cdbSNP:116484797
complement(1422)-g, adbSNP:150481419
complement(1514)-dbSNP:
complement(1514)-g, adbSNP:115972761
complement(1527)-g, c, adbSNP:113507003
complement(1555)-t, gdbSNP:141596199
complement(1591)-t, cdbSNP:148289169
complement(1608)-t, cdbSNP:144993665
complement(1669)-g, adbSNP:45594632
complement(1674)-g, adbSNP:146700154
complement(1763)-dbSNP:
complement(1763)-t, cdbSNP:116008388
complement(1776)-g, adbSNP:199505318
complement(1777)-t, cdbSNP:148871144
complement(1877)-g, adbSNP:199787216
complement(1954)-t, gdbSNP:145590461
complement(1992)-t, cdbSNP:149742998
complement(1999)-t, cdbSNP:45495503
complement(2042)-dbSNP:
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(2106)-t, cdbSNP:139490049
complement(2157)-t, gdbSNP:114354377
complement(2158)-g, adbSNP:201441200
complement(2196)-dbSNP:
complement(2196)-t, gdbSNP:80067811
complement(2216)-t, gdbSNP:11555770
complement(2222)-t, cdbSNP:200182122
complement(2302)-t, cdbSNP:200820078
complement(2308)-dbSNP:
complement(2308)-g, adbSNP:141228666
complement(2333)-g, adbSNP:112923134
complement(2355)-t, cdbSNP:111367706
complement(2422)-t, cdbSNP:201674874
complement(2433)-g, adbSNP:144789551
complement(2434)-t, cdbSNP:149419129
complement(2439)-g, adbSNP:138957112
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 $849.00 20
NM_001114134 Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 2, mRNA. In-stock $639.00 $590.00 15
Title Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1 .
Author Bustos,S.P. and Reithmeier,R.A.
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,L.L. and Lux,S.E.
Journal J. Biol. Chem. 285 (7), 4757-4770 (2010)
Title Protein 4.2: a complex linker .
Author Satchwell,T.J., Shoemark,D.K., Sessions,R.B. and Toye,A.M.
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,K.N., Parthasarathy,R., Westhoff,C.M., Layton,D.M. and Discher,D.E.
Journal Blood 103 (3), 1131-1136 (2004)
Title The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene .
Author White,R.A., Peters,L.L., Adkison,L.R., Korsgren,C., Cohen,C.M. and Lux,S.E.
Journal Nat. Genet. 2 (1), 80-83 (1992)
Title Human erythrocyte protein 4.2: isoform expression, differential splicing, and chromosomal assignment .
Author Sung,L.A., Chien,S., Fan,Y.S., Lin,C.C., Lambert,K., Zhu,L., Lam,J.S. and Chang,L.S.
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,E.E., Schwartz,R.S., Yawata,Y., Ata,K., Kanzaki,A., Qiu,J.J., Nagel,R.L. and Rybicki,A.C.
Journal Blood 79 (7), 1846-1854 (1992)
Title Human erythrocyte protein 4.2, a high copy number membrane protein, is N-myristylated .
Author Risinger,M.A., Dotimas,E.M. and Cohen,C.M.
Journal J. Biol. Chem. 267 (8), 5680-5685 (1992)
Title Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane .
Author Sung,L.A., Chien,S., Chang,L.S., Lambert,K., Bliss,S.A., Bouhassira,E.E., Nagel,R.L., Schwartz,R.S. and Rybicki,A.C.
Journal Proc. Natl. Acad. Sci. U.S.A. 87 (3), 955-959 (1990)


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