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Database:

Blast Method:

 
 


Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001204397 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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RefSeq Version NM_001204397.1, 324710991
Length 3482 bp
Structure linear
Update Date 27-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.
Product pituitary homeobox 2 isoform b
Comment

Summary: This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (4) has an additional exon in the 5' UTR, as compared to variant 2. Variants 2, 4 and 5 encode the same isoform b.

RefSeq NP_001191326.1
CDS 1824..2777
Misc Feature(1)1815..1817
Misc Feature(2)1815..1817
Misc Feature(3)2079..2255
Misc Feature(4)2079..2255
Misc Feature(5)order(2079..2093,2097..2099,2148..2150,2166..2168,
Misc Feature(6)order(2085..2087,2094..2096,2214..2216,2223..2228,
Misc Feature(7)2643..2699
Misc Feature(8)2658..2699
Misc Feature(9)2676..2690
Exon (1)1..205
Gene:PITX2
Gene Synonym:ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
Exon (2)206..1579
Gene:PITX2
Gene Synonym:ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
Exon (3)1580..1813
Gene:PITX2
Gene Synonym:ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
Exon (4)1814..1869
Gene:PITX2
Gene Synonym:ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
Exon (5)1870..2007
Gene:PITX2
Gene Synonym:ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
Exon (6)2008..2213
Gene:PITX2
Gene Synonym:ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
Exon (7)2214..3479
Gene:PITX2
Gene Synonym:ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
Translation METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGA NEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV WTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWA AKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLN SLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQ NPASNLSACQYAVDRPV
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Position Chain Variation Link
complement(58)-dbSNP:
complement(58)-t, gdbSNP:117231596
complement(241..242)-dbSNP:
complement(241..242)-, gdbSNP:61567593
complement(255)-t, gdbSNP:145638916
complement(279)-c, adbSNP:192250966
complement(304..305)-, ttdbSNP:58693505
complement(331)-c, adbSNP:375830124
complement(453)-t, cdbSNP:141922822
complement(479)-g, cdbSNP:187210297
complement(522)-g, adbSNP:62338989
549+c, gdbSNP:2739191
553+c, gdbSNP:2739192
complement(566)-t, cdbSNP:181439547
complement(583)-g, adbSNP:377371567
607+c, gdbSNP:2739193
610+c, gdbSNP:2739194
complement(623)-g, adbSNP:368647502
complement(684)-g, cdbSNP:369582630
complement(758)-t, gdbSNP:138899981
complement(797)-t, gdbSNP:145044365
complement(856)-g, adbSNP:189152290
complement(995)-g, adbSNP:185557577
complement(1041)-t, gdbSNP:13145739
1105+c, gdbSNP:2739200
complement(1172..1173)-, gdbSNP:111246791
complement(1191)-t, gdbSNP:35956624
complement(1198)-c, adbSNP:113778706
complement(1228)-g, cdbSNP:181197472
complement(1296)-g, adbSNP:149097993
complement(1303)-t, cdbSNP:113717851
complement(1379)-t, cdbSNP:111733107
complement(1399)-t, cdbSNP:371965728
complement(1570)-c, adbSNP:2739203
complement(1689)-dbSNP:
complement(1689)-g, adbSNP:377536294
complement(1763)-t, cdbSNP:72898110
complement(1765)-t, gdbSNP:182641204
1825+a, cdbSNP:75334582
complement(1829)-t, cdbSNP:376818069
complement(1836)-g, adbSNP:200683912
complement(1847)-c, adbSNP:143778014
complement(1851)-t, adbSNP:139906074
complement(1855)-g, adbSNP:373848340
complement(1856)-g, cdbSNP:370048347
complement(1860)-g, cdbSNP:1131942
complement(1861)-c, adbSNP:374524467
complement(1882)-dbSNP:
complement(1882)-g, adbSNP:150684621
complement(1903)-g, adbSNP:201299310
complement(1937)-c, adbSNP:200782789
complement(1976)-t, cdbSNP:374552405
complement(1988)-t, cdbSNP:142015013
complement(2015)-dbSNP:
complement(2015)-g, adbSNP:370588233
complement(2026)-t, cdbSNP:201628949
2074+c, gdbSNP:28936409
complement(2075)-t, cdbSNP:149288560
2118+c, gdbSNP:1051887
2122+a, tdbSNP:104893857
2146+a, gdbSNP:104893862
2163+a, cdbSNP:104893858
2167+a, gdbSNP:104893861
2208+c, gdbSNP:121909249
2211+c, tdbSNP:121909248
2223+dbSNP:
2223+a, gdbSNP:387906810
2233+c, gdbSNP:104893859
complement(2246)-t, cdbSNP:138593200
complement(2288)-g, adbSNP:374404013
complement(2327)-g, adbSNP:113012179
2360+a, gdbSNP:104893860
complement(2364)-t, cdbSNP:77144743
2382+a, gdbSNP:193920830
complement(2420)-c, adbSNP:35946364
complement(2421)-t, cdbSNP:138163892
complement(2441)-t, adbSNP:141176394
complement(2477)-t, cdbSNP:140541021
complement(2480)-g, adbSNP:201319333
complement(2530)-t, cdbSNP:146807994
complement(2531)-g, adbSNP:143714974
complement(2589)-c, adbSNP:149181425
complement(2597)-c, adbSNP:145355581
complement(2614)-t, adbSNP:371238455
complement(2619)-t, gdbSNP:376861814
complement(2621)-t, cdbSNP:148191851
complement(2649)-t, cdbSNP:374542009
complement(2664)-g, adbSNP:139401187
2708+c, gdbSNP:1051888
2726+a, cdbSNP:2739199
complement(2726)-c, adbSNP:386573051
complement(2771)-g, adbSNP:147543001
2801+c, gdbSNP:1051889
complement(2813)-g, cdbSNP:201933531
complement(3231)-g, adbSNP:6533526
complement(3248)-t, cdbSNP:75911264
complement(3267)-g, adbSNP:144573985
complement(3299)-g, adbSNP:188349821
3334+c, gdbSNP:2739201
3336+c, gdbSNP:2739202
complement(3367..3368)-, tadbSNP:200739974
complement(3464)-t, cdbSNP:185925533
Gene SymbolPITX2
Gene SynonymARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
Chromosome4
Locus Map4q25
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000325 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 3, mRNA. In-stock $418.00 $369.00 10
NM_001204399 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 6, mRNA. In-stock $348.00 $299.00 10
NM_153426 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 2, mRNA. On-demand $549.00 14
NM_001204398 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 5, mRNA. On-demand $549.00 14
NM_001204397 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA. On-demand $549.00 14
NM_153427 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 1, mRNA. In-stock $348.00 $299.00 10
XM_006714235 PREDICTED: Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant X1, mRNA. On-demand $549.00 14
Title PITX2 associates with PTIP-containing histone H3 lysine 4 methyltransferase complex .
Author Liu Y, Huang Y, Fan J and Zhu GZ.
Journal Biochem. Biophys. Res. Commun. 444 (4), 634-637 (2014)
Title PITX2 and non-canonical Wnt pathway interaction in metastatic prostate cancer .
Author Vela I, Morrissey C, Zhang X, Chen S, Corey E, Strutton GM, Nelson CC, Nicol DL, Clements JA and Gardiner EM.
Journal Clin. Exp. Metastasis 31 (2), 199-211 (2014)
Title Prevalence and spectrum of PITX2c mutations associated with congenital heart disease .
Author Wang J, Xin YF, Xu WJ, Liu ZM, Qiu XB, Qu XK, Xu L, Li X and Yang YQ.
Journal DNA Cell Biol. 32 (12), 708-716 (2013)
Title A novel PITX2c lossoffunction mutation underlies lone atrial fibrillation .
Author Zhou YM, Zheng PX, Yang YQ, Ge ZM and Kang WQ.
Journal Int. J. Mol. Med. 32 (4), 827-834 (2013)
Title PITX2c loss-of-function mutations responsible for congenital atrial septal defects .
Author Yuan F, Zhao L, Wang J, Zhang W, Li X, Qiu XB, Li RG, Xu YJ, Xu L, Qu XK, Fang WY and Yang YQ.
Journal Int J Med Sci 10 (10), 1422-1429 (2013)
Title The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities .
Author Amendt BA, Sutherland LB, Semina EV and Russo AF.
Journal J. Biol. Chem. 273 (32), 20066-20072 (1998)
Title Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene .
Author Arakawa H, Nakamura T, Zhadanov AB, Fidanza V, Yano T, Bullrich F, Shimizu M, Blechman J, Mazo A, Canaani E and Croce CM.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (8), 4573-4578 (1998)
Title Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene .
Author Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM and Murray JC.
Journal Am. J. Ophthalmol. 125 (1), 98-100 (1998)
Title Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome .
Author Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC and Murray JC.
Journal Nat. Genet. 14 (4), 392-399 (1996)
Title Anophthalmia/Microphthalmia Overview .
Author Bardakjian,T., Weiss,A. and Schneider,A.S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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