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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

*Business Day

Related Services

RefSeq Version NM_016621.3, 156546909
Length 7194 bp
Structure linear
Update Date 02-MAR-2014
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(253..254)-, ctctct, ctctctctdbSNP:368044954
complement(254)-t, adbSNP:76438715
complement(257..258)-, ctdbSNP:142787547
complement(262)-t, adbSNP:77717223
complement(325)-t, adbSNP:372848607
complement(487)-t, gdbSNP:185025534
complement(640)-g, adbSNP:368747519
complement(719)-dbSNP:
complement(719)-t, cdbSNP:376976172
745+g, tdbSNP:184844524
complement(789)-dbSNP:
complement(789)-g, adbSNP:150224569
complement(798)-t, cdbSNP:188262658
834+g, tdbSNP:192078513
841+g, tdbSNP:187207830
845+a, tdbSNP:183738877
complement(858)-t, cdbSNP:140971307
870+g, tdbSNP:191069313
875+a, tdbSNP:188375803
complement(914)-t, gdbSNP:373917512
complement(915)-t, cdbSNP:151038480
complement(939)-g, adbSNP:372037631
complement(968)-t, cdbSNP:143629966
complement(1073)-dbSNP:
complement(1073)-g, adbSNP:371302419
complement(1104)-g, adbSNP:148927461
complement(1108)-t, cdbSNP:367774347
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(1307)-t, cdbSNP:377000937
complement(1377)-dbSNP:
complement(1377)-t, cdbSNP:201084175
complement(1389)-g, adbSNP:146597431
complement(1395)-t, adbSNP:151169176
complement(1396)-t, gdbSNP:372120817
complement(1410)-t, cdbSNP:368886127
complement(1416)-g, adbSNP:374415498
complement(1461)-g, cdbSNP:201598869
complement(1477)-t, cdbSNP:139491575
complement(1486)-t, cdbSNP:375962099
1491+a, cdbSNP:76787394
complement(1506)-t, cdbSNP:35646259
complement(1573)-t, cdbSNP:141651690
complement(1582)-t, gdbSNP:182525415
complement(1584)-t, cdbSNP:139437635
complement(1595)-g, adbSNP:369971487
complement(1599)-t, gdbSNP:188195248
complement(1663)-dbSNP:
complement(1663)-t, cdbSNP:368477730
complement(1666)-g, adbSNP:147438481
complement(1667)-t, cdbSNP:3736508
complement(1670)-g, cdbSNP:138843746
complement(1687)-t, cdbSNP:373855533
complement(1737)-dbSNP:
complement(1737)-t, cdbSNP:377353890
complement(1836)-dbSNP:
complement(1836)-t, cdbSNP:188111239
complement(1870)-dbSNP:
complement(1870)-t, cdbSNP:369007930
complement(1963)-dbSNP:
complement(1963)-g, adbSNP:35429504
complement(1995)-g, adbSNP:367705129
complement(2034)-t, gdbSNP:371625119
complement(2168)-dbSNP:
complement(2168)-t, gdbSNP:183908133
complement(2173)-t, cdbSNP:181777392
complement(2191)-g, adbSNP:199703750
complement(2211)-g, adbSNP:368350444
complement(2237)-t, gdbSNP:186002581
complement(2266)-t, cdbSNP:200410948
complement(2274)-dbSNP:
complement(2274)-t, cdbSNP:149588947
complement(2279)-g, adbSNP:370166935
complement(2296)-t, cdbSNP:138242314
complement(2298)-g, adbSNP:147424018
complement(2306)-c, adbSNP:375495711
complement(2321)-t, adbSNP:150425973
complement(2353)-g, adbSNP:374586100
complement(2354)-t, cdbSNP:370627435
complement(2355)-g, adbSNP:112782705
complement(2365)-t, cdbSNP:376981110
complement(2366)-t, cdbSNP:140543084
complement(2368)-t, cdbSNP:146779650
complement(2378)-g, adbSNP:373767892
complement(2404)-c, adbSNP:145172014
2413+g, tdbSNP: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(2466)-t, cdbSNP:377700825
2467+a, gdbSNP:1063809
2468+c, gdbSNP:1063810
complement(2474)-t, gdbSNP:374553564
complement(2498)-g, adbSNP:149898933
2499+a, gdbSNP:35170501
complement(2513)-g, cdbSNP:139477838
complement(2544)-t, cdbSNP:369443440
complement(2554)-t, cdbSNP:202030833
complement(2565)-t, cdbSNP:141244643
complement(2573)-g, cdbSNP:200063673
complement(2608)-t, cdbSNP:187459294
complement(2659..2660)-, tcdbSNP:377436323
complement(2682)-g, adbSNP:183541088
complement(2721)-t, cdbSNP:193172065
complement(2797)-g, adbSNP:373895637
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
3462+a, gdbSNP:193009513
complement(3462)-g, adbSNP:386434055
complement(3561)-c, adbSNP:35588803
complement(3723)-t, cdbSNP:139414158
3767+c, tdbSNP:11537991
complement(3775)-t, cdbSNP:150871012
complement(3819)-, adbSNP:373430219
complement(3919)-c, adbSNP:376685241
complement(4292)-t, cdbSNP:142413568
complement(4345..4349)-, agcctdbSNP:141686809
complement(4349..4353)-, agccadbSNP:201941105
complement(4349)-g, adbSNP:188698988
complement(4351..4354)-, cagcdbSNP:200068069
complement(4428)-g, adbSNP:182477810
complement(4524)-g, adbSNP:372736162
complement(4574)-t, cdbSNP:368514544
complement(4587)-g, adbSNP:139545173
complement(4686)-g, adbSNP:190220677
complement(4701)-g, cdbSNP:374568278
complement(4742)-t, gdbSNP:376744076
complement(4850)-t, cdbSNP:11547493
complement(4879)-t, cdbSNP:186655878
complement(4944)-g, adbSNP:74566099
complement(4974..4976)-, cttdbSNP:375192793
complement(4985)-g, adbSNP:112057727
complement(5114)-t, adbSNP:79181301
5220+g, tdbSNP:187267508
complement(5221..5222)-, agdbSNP:397783389
complement(5221)-g, adbSNP:182613060
complement(5221)-g, adbSNP:386452159
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(5626)-t, cdbSNP:114914523
complement(5670)-t, cdbSNP:181516764
complement(5737)-g, adbSNP:2863714
complement(5815)-g, adbSNP:368556251
complement(5865..5866)-, tdbSNP:35128677
complement(6006)-g, adbSNP:374137701
complement(6197)-t, cdbSNP:80116517
complement(6231)-g, adbSNP:138098779
complement(6305)-g, adbSNP:61882483
complement(6558)-g, adbSNP:190272470
complement(6559)-t, cdbSNP:370621699
complement(6568)-t, gdbSNP:78915745
complement(6742)-t, cdbSNP:10838533
complement(6766)-t, cdbSNP:78017238
complement(6838)-g, adbSNP:150340926
6880+a, gdbSNP:140358721
complement(6888)-t, cdbSNP:113392556
complement(6956)-g, adbSNP:182590564
complement(7036)-t, cdbSNP:188238313
complement(7103)-t, cdbSNP:376869895
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_016621 Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 2, mRNA. On-demand $849.00 20
NM_001101802 Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA. On-demand $849.00 20
XM_005252962 PREDICTED: Homo sapiens PHD finger protein 21A (PHF21A), transcript variant X1, mRNA. On-demand $849.00 20
XM_005252963 PREDICTED: Homo sapiens PHD finger protein 21A (PHF21A), transcript variant X2, mRNA. On-demand $849.00 20
XM_005252964 PREDICTED: Homo sapiens PHD finger protein 21A (PHF21A), transcript variant X3, mRNA. On-demand $849.00 20
XM_005252965 PREDICTED: Homo sapiens PHD finger protein 21A (PHF21A), transcript variant X4, mRNA. On-demand $849.00 20
XM_005252967 PREDICTED: Homo sapiens PHD finger protein 21A (PHF21A), transcript variant X6, mRNA. On-demand $849.00 20
XM_006718247 PREDICTED: Homo sapiens PHD finger protein 21A (PHF21A), transcript variant X11, mRNA. On-demand $849.00 20
XM_006718248 PREDICTED: Homo sapiens PHD finger protein 21A (PHF21A), transcript variant X12, mRNA. On-demand $849.00 20
XM_005252970 PREDICTED: Homo sapiens PHD finger protein 21A (PHF21A), transcript variant X9, mRNA. On-demand $849.00 20
Title Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error .
Author Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Parssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM and Baird PN.
Journal Am. J. Hum. Genet. 93 (2), 264-277 (2013)
Title Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies .
Author Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH and Gusella JF.
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 CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Cousminer DL, Gudbjartsson DF, Esko T, Feenstra B, Hottenga JJ, Koller DL, Kutalik Z, Lin P, Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PK, Smith EN, Ulivi S, Warrington NM, Zgaga L, Alavere H, Amin N, Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, d'Adamo P, de Faire U, de Geus EJ, Deloukas P, Doring A, Smith GD, Easton DF, Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M, Gasparini P, Geller F, Gieger C, Gudnason V, Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T, Jarvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel DP, Kilpelainen TO, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S, Liu J, Levy D, Martin NG, McArdle WL, Melbye M, Mooser V, Murray JC, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA, Peacock M, Palmer LJ, Palotie A, Pare G, Parker AN, Pedersen NL, Peltonen L, Pennell CE, Pharoah P, Polasek O, Plump AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F, Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ, Scuteri A, Segre AV, Shuldiner AR, Soranzo N, Sovio U, Srinivasan SR, Strachan DP, Tammesoo ML, Tikkanen E, Toniolo D, Tsui K, Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JB, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN, Wichmann HE, Willemsen G, Wilson JF, Wright AF, Young L, Zhai G, Zhuang WV, Bierut LJ, Boomsma DI, Boyd HA, Crisponi L, Demerath EW, van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJ, Metspalu A, Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U, Uitterlinden AG, Widen E, Murabito JM, Ong KK 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 CJ, Palidwor G, Perez-Iratxeta C, Muro EM, Campbell PA, Rudnicki MA and Andrade-Navarro MA.
Journal BMC Genomics 8, 85 (2007)
Title Regulation of LSD1 histone demethylase activity by its associated factors .
Author Shi YJ, 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 MA, Dong Y, Lane WS, Speicher DW 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 MA, Bochar DA, Chenoweth J, Lane WS, Mandel G and Shiekhattar R.
Journal Proc. Natl. Acad. Sci. U.S.A. 99 (11), 7420-7425 (2002)

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