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Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_016621 Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_016621.3, 156546909
Length 7194 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 2, mRNA.
Product PHD finger protein 21A isoform b
Comment

Summary: The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010].


Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, and includes an alternate in-frame exon in the 3' coding region, but lacks a different alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.


##Evidence-Data-START## Transcript exon combination :: AB051483.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_057705.3
CDS 625..2529
Misc Feature(1)619..621
Misc Feature(2)619..621
Misc Feature(3)1954..2085
Misc Feature(4)1954..2085
Exon (1)1..500
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (2)501..541
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (3)542..678
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (4)679..711
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (5)712..777
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (6)778..984
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (7)985..1236
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (8)1237..1326
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (9)1327..1620
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (10)1621..1719
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (11)1720..1771
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (12)1772..1851
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (13)1852..1912
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (14)1913..1935
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (15)1936..2091
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (16)2092..2167
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (17)2168..2271
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Exon (18)2272..7178
Gene:PHF21A
Gene Synonym:BHC80; BM-006
Translation MELQTLQEALKVEIQVHQKLVAQMKQDPQNADLKKQLHELQAKITALSEKQKRVVEQLRK NLIVKQEQPDKFQIQPLPQSENKLQTAQQQPLQQLQQQQQYHHHHAQQSAAASPNLTASQ KTVTTASMITTKTLPLVLKAATATMPASVVGQRPTIAMVTAINSQKAVLSTDVQNTPVNL QTSSKVTGPGAEAVQIVAKNTVTLQVQATPPQPIKVPQFIPPPRLTPRPNFLPQVRPKPV AQNNIPIAPAPPPMLAAPQLIQRPVMLTKFTPTTLPTSQNSIHPVRVVNGQTATIAKTFP MAQLTSIVIATPGTRLAGPQTVQLSKPSLEKQTVKSHTETDEKQTESRTITPPAAPKPKR EENPQKLAFMVSLGLVTHDHLEEIQSKRQERKRRTTANPVYSGAVFEPERKKSAVTYLNS TMHPGTRKRANEEHWPKGDIHEDFCSVCRKSGQLLMCDTCSRVYHLDCLDPPLKTIPKGM WICPRCQDQMLKKEEAIPWPGTLAIVHSYIAYKAAKEEEKQKLLKWSSDLKQEREQLEQK VKQLSNSISKCMEMKNTILARQKEMHSSLEKVKQLIRLIHGIDLSKPVDSEATVGAISNG PDCTPPANAATSTPAPSPSSQSCTANCNQGEETK
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Position Chain Variation Link
complement(231..232)-dbSNP:
complement(231..232)-, ctctctctdbSNP:60788619
complement(243)-g, cdbSNP:61884082
complement(244)-t, cdbSNP:61884081
complement(247..248)-, tctctctcdbSNP:72390890
complement(252..253)-, ctctctdbSNP:72489401
complement(254)-t, adbSNP:76438715
complement(257..258)-, ctdbSNP:142787547
complement(262)-t, adbSNP:77717223
complement(487)-t, gdbSNP:185025534
complement(745)-dbSNP:
complement(745)-t, gdbSNP:184844524
complement(789)-dbSNP:
complement(789)-g, adbSNP:150224569
complement(798)-t, cdbSNP:188262658
complement(834)-t, gdbSNP:192078513
complement(841)-t, gdbSNP:187207830
complement(845)-t, adbSNP:183738877
complement(858)-t, cdbSNP:140971307
complement(870)-t, gdbSNP:191069313
complement(875)-t, adbSNP:188375803
complement(915)-t, cdbSNP:151038480
complement(968)-t, cdbSNP:143629966
complement(1104)-dbSNP:
complement(1104)-g, adbSNP:148927461
complement(1155)-t, cdbSNP:146889561
complement(1161)-g, adbSNP:75969129
complement(1169)-g, adbSNP:200842546
complement(1288)-dbSNP:
complement(1288)-g, cdbSNP:143881073
complement(1299)-g, cdbSNP:140142221
complement(1377)-dbSNP:
complement(1377)-t, cdbSNP:201084175
complement(1389)-g, adbSNP:146597431
complement(1395)-t, adbSNP:151169176
complement(1461)-g, cdbSNP:201598869
complement(1477)-t, cdbSNP:139491575
complement(1491)-c, adbSNP:76787394
complement(1506)-t, cdbSNP:35646259
complement(1573)-t, cdbSNP:141651690
complement(1582)-t, gdbSNP:182525415
complement(1584)-t, cdbSNP:139437635
complement(1599)-t, gdbSNP:188195248
complement(1666)-dbSNP:
complement(1666)-g, adbSNP:147438481
complement(1667)-t, cdbSNP:3736508
complement(1670)-g, cdbSNP:138843746
complement(1836)-dbSNP:
complement(1836)-t, cdbSNP:188111239
complement(1963)-dbSNP:
complement(1963)-g, adbSNP:35429504
complement(2168)-dbSNP:
complement(2168)-t, gdbSNP:183908133
complement(2173)-t, cdbSNP:181777392
complement(2191)-g, adbSNP:199703750
complement(2237)-t, gdbSNP:186002581
complement(2266)-t, cdbSNP:200410948
complement(2274)-dbSNP:
complement(2274)-t, cdbSNP:149588947
complement(2296)-t, cdbSNP:138242314
complement(2298)-g, adbSNP:147424018
complement(2321)-t, adbSNP:150425973
complement(2355)-g, adbSNP:112782705
complement(2366)-t, cdbSNP:140543084
complement(2368)-t, cdbSNP:146779650
complement(2404)-c, adbSNP:145172014
complement(2413)-t, gdbSNP:76343926
complement(2420)-t, cdbSNP:191903911
complement(2427)-t, cdbSNP:199802844
complement(2435)-t, g, adbSNP:141388105
complement(2440)-t, gdbSNP:151090965
complement(2443)-t, cdbSNP:142948382
complement(2462)-g, adbSNP:148557580
complement(2463)-t, cdbSNP:144966693
complement(2467)-g, adbSNP:1063809
complement(2468)-g, cdbSNP:1063810
complement(2498)-g, adbSNP:149898933
complement(2499)-g, adbSNP:35170501
complement(2513)-g, cdbSNP:139477838
complement(2554)-t, cdbSNP:202030833
complement(2565)-t, cdbSNP:141244643
complement(2573)-g, cdbSNP:200063673
complement(2608)-t, cdbSNP:187459294
complement(2682)-g, adbSNP:183541088
complement(2721)-t, cdbSNP:193172065
complement(2872)-g, adbSNP:188624326
complement(2894)-t, cdbSNP:146634008
complement(2915)-t, adbSNP:184070115
complement(3007)-t, cdbSNP:114235380
complement(3088)-c, adbSNP:189712482
complement(3131)-t, cdbSNP:150071758
complement(3265)-t, cdbSNP:80355554
complement(3316)-g, adbSNP:185232195
complement(3372)-t, cdbSNP:118078746
complement(3462)-g, adbSNP:193009513
complement(3561)-c, adbSNP:35588803
complement(3723)-t, cdbSNP:139414158
complement(3767)-t, cdbSNP:11537991
complement(3775)-t, cdbSNP:150871012
complement(4292)-t, cdbSNP:142413568
complement(4345..4349)-, agcctdbSNP:141686809
complement(4345)-, agcctdbSNP:58986806
complement(4349..4353)-, agccadbSNP:201941105
complement(4349)-g, adbSNP:188698988
complement(4351..4354)-, cagcdbSNP:200068069
complement(4428)-g, adbSNP:182477810
complement(4587)-g, adbSNP:139545173
complement(4686)-g, adbSNP:190220677
complement(4850)-t, cdbSNP:11547493
complement(4879)-t, cdbSNP:186655878
complement(4944)-g, adbSNP:74566099
complement(4985)-g, adbSNP:112057727
complement(5114)-t, adbSNP:79181301
complement(5220)-t, gdbSNP:187267508
complement(5221..5222)-, agdbSNP:55895611
complement(5221)-g, adbSNP:182613060
complement(5222..5223)-, gg, agdbSNP:34311107
complement(5223..5224)-, agdbSNP:3833430
complement(5454)-g, adbSNP:143878034
complement(5480)-t, adbSNP:78566865
complement(5523..5525)-, tctdbSNP:151279777
complement(5590..5591)-, cdbSNP:61505607
complement(5591..5592)-, cdbSNP:141879629
complement(5626)-t, cdbSNP:114914523
complement(5670)-t, cdbSNP:181516764
complement(5737)-g, adbSNP:2863714
complement(5865..5866)-, tdbSNP:35128677
complement(6197)-t, cdbSNP:80116517
complement(6231)-g, adbSNP:138098779
complement(6305)-g, adbSNP:61882483
complement(6558)-g, adbSNP:190272470
complement(6568)-t, gdbSNP:78915745
complement(6742)-t, cdbSNP:10838533
complement(6766)-t, cdbSNP:78017238
complement(6838)-g, adbSNP:150340926
complement(6880)-g, adbSNP:140358721
complement(6888)-t, cdbSNP:113392556
complement(6956)-g, adbSNP:182590564
complement(7036)-t, cdbSNP:188238313
complement(7105..7106)-, cdbSNP:200626824
Gene SymbolPHF21A
Gene SynonymBHC80; BM-006
Chromosome11
Locus Map11p11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001101802 Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA. On-demand $849.00 20
NM_016621 Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 2, mRNA. On-demand $849.00 20
Title Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies .
Author Kim,H.G., Kim,H.T., Leach,N.T., Lan,F., Ullmann,R., Silahtaroglu,A., Kurth,I., Nowka,A., Seong,I.S., Shen,Y., Talkowski,M.E., Ruderfer,D., Lee,J.H., Glotzbach,C., Ha,K., Kjaergaard,S., Levin,A.V., Romeike,B.F., Kleefstra,T., Bartsch,O., Elsea,S.H., Jabs,E.W., MacDonald,M.E., Harris,D.J., Quade,B.J., Ropers,H.H., Shaffer,L.G., Kutsche,K., Layman,L.C., Tommerup,N., Kalscheuer,V.M., Shi,Y., Morton,C.C., Kim,C.H. and Gusella,J.F.
Journal Am. J. Hum. Genet. 91 (1), 56-72 (2012)
Title Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies .
Author Elks,C.E., Perry,J.R., Sulem,P., Chasman,D.I., Franceschini,N., He,C., Lunetta,K.L., Visser,J.A., Byrne,E.M., Cousminer,D.L., Gudbjartsson,D.F., Esko,T., Feenstra,B., Hottenga,J.J., Koller,D.L., Kutalik,Z., Lin,P., Mangino,M., Marongiu,M., McArdle,P.F., Smith,A.V., Stolk,L., van Wingerden,S.H., Zhao,J.H., Albrecht,E., Corre,T., Ingelsson,E., Hayward,C., Magnusson,P.K., Smith,E.N., Ulivi,S., Warrington,N.M., Zgaga,L., Alavere,H., Amin,N., Aspelund,T., Bandinelli,S., Barroso,I., Berenson,G.S., Bergmann,S., Blackburn,H., Boerwinkle,E., Buring,J.E., Busonero,F., Campbell,H., Chanock,S.J., Chen,W., Cornelis,M.C., Couper,D., Coviello,A.D., d'Adamo,P., de Faire,U., de Geus,E.J., Deloukas,P., Doring,A., Smith,G.D., Easton,D.F., Eiriksdottir,G., Emilsson,V., Eriksson,J., Ferrucci,L., Folsom,A.R., Foroud,T., Garcia,M., Gasparini,P., Geller,F., Gieger,C., Gudnason,V., Hall,P., Hankinson,S.E., Ferreli,L., Heath,A.C., Hernandez,D.G., Hofman,A., Hu,F.B., Illig,T., Jarvelin,M.R., Johnson,A.D., Karasik,D., Khaw,K.T., Kiel,D.P., Kilpelainen,T.O., Kolcic,I., Kraft,P., Launer,L.J., Laven,J.S., Li,S., Liu,J., Levy,D., Martin,N.G., McArdle,W.L., Melbye,M., Mooser,V., Murray,J.C., Murray,S.S., Nalls,M.A., Navarro,P., Nelis,M., Ness,A.R., Northstone,K., Oostra,B.A., Peacock,M., Palmer,L.J., Palotie,A., Pare,G., Parker,A.N., Pedersen,N.L., Peltonen,L., Pennell,C.E., Pharoah,P., Polasek,O., Plump,A.S., Pouta,A., Porcu,E., Rafnar,T., Rice,J.P., Ring,S.M., Rivadeneira,F., Rudan,I., Sala,C., Salomaa,V., Sanna,S., Schlessinger,D., Schork,N.J., Scuteri,A., Segre,A.V., Shuldiner,A.R., Soranzo,N., Sovio,U., Srinivasan,S.R., Strachan,D.P., Tammesoo,M.L., Tikkanen,E., Toniolo,D., Tsui,K., Tryggvadottir,L., Tyrer,J., Uda,M., van Dam,R.M., van Meurs,J.B., Vollenweider,P., Waeber,G., Wareham,N.J., Waterworth,D.M., Weedon,M.N., Wichmann,H.E., Willemsen,G., Wilson,J.F., Wright,A.F., Young,L., Zhai,G., Zhuang,W.V., Bierut,L.J., Boomsma,D.I., Boyd,H.A., Crisponi,L., Demerath,E.W., van Duijn,C.M., Econs,M.J., Harris,T.B., Hunter,D.J., Loos,R.J., Metspalu,A., Montgomery,G.W., Ridker,P.M., Spector,T.D., Streeten,E.A., Stefansson,K., Thorsteinsdottir,U., Uitterlinden,A.G., Widen,E., Murabito,J.M., Ong,K.K. and Murray,A.
Journal Nat. Genet. 42 (12), 1077-1085 (2010)
Title The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex .
Author Klajn,A., Ferrai,C., Stucchi,L., Prada,I., Podini,P., Baba,T., Rocchi,M., Meldolesi,J. and D'Alessandro,R.
Journal J. Neurosci. 29 (19), 6296-6307 (2009)
Title Gene function in early mouse embryonic stem cell differentiation .
Author Hailesellasse Sene,K., Porter,C.J., Palidwor,G., Perez-Iratxeta,C., Muro,E.M., Campbell,P.A., Rudnicki,M.A. and Andrade-Navarro,M.A.
Journal BMC Genomics 8, 85 (2007)
Title Regulation of LSD1 histone demethylase activity by its associated factors .
Author Shi,Y.J., Matson,C., Lan,F., Iwase,S., Baba,T. and Shi,Y.
Journal Mol. Cell 19 (6), 857-864 (2005)
Title Characterization of BHC80 in BRAF-HDAC complex, involved in neuron-specific gene repression .
Author Iwase,S., Januma,A., Miyamoto,K., Shono,N., Honda,A., Yanagisawa,J. and Baba,T.
Journal Biochem. Biophys. Res. Commun. 322 (2), 601-608 (2004)
Title A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes .
Author Hakimi,M.A., Dong,Y., Lane,W.S., Speicher,D.W. and Shiekhattar,R.
Journal J. Biol. Chem. 278 (9), 7234-7239 (2003)
Title A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes .
Author Hakimi,M.A., Bochar,D.A., Chenoweth,J., Lane,W.S., Mandel,G. and Shiekhattar,R.
Journal Proc. Natl. Acad. Sci. U.S.A. 99 (11), 7420-7425 (2002)


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