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


RefSeq Accession Definition Services Price Order
NM_001204397 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA. ORF Sequence $276.66
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RefSeq Version NM_001204397.1, 324710991
Length 3482 bp
Structure linear
Update Date 17-APR-2013
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(245..246)-dbSNP:
complement(245..246)-, gdbSNP:61567593
complement(255)-t, gdbSNP:145638916
complement(279)-c, adbSNP:192250966
complement(309..310)-, ttdbSNP:58693505
complement(453)-t, cdbSNP:141922822
complement(479)-g, cdbSNP:187210297
complement(522)-g, adbSNP:62338989
complement(549)-g, cdbSNP:2739191
complement(553)-g, cdbSNP:2739192
complement(566)-t, cdbSNP:181439547
complement(607)-g, cdbSNP:2739193
complement(610)-g, cdbSNP:2739194
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
complement(1105)-g, cdbSNP:2739200
complement(1173..1174)-, 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(1570)-c, adbSNP:2739203
complement(1763)-dbSNP:
complement(1763)-t, cdbSNP:72898110
complement(1765)-t, gdbSNP:182641204
complement(1825)-c, adbSNP:75334582
complement(1836)-g, adbSNP:200683912
complement(1847)-c, adbSNP:143778014
complement(1851)-t, adbSNP:139906074
complement(1860)-g, cdbSNP:1131942
complement(1882)-dbSNP:
complement(1882)-g, adbSNP:150684621
complement(1903)-g, adbSNP:201299310
complement(1937)-c, adbSNP:200782789
complement(1988)-t, cdbSNP:142015013
complement(2026)-dbSNP:
complement(2026)-t, cdbSNP:201628949
complement(2051)-g, cdbSNP:146962271
complement(2074)-g, cdbSNP:28936409
complement(2075)-t, cdbSNP:149288560
complement(2118)-g, cdbSNP:1051887
complement(2122)-t, adbSNP:104893857
complement(2146)-g, adbSNP:104893862
complement(2163)-c, adbSNP:104893858
2167+a, gdbSNP:104893861
complement(2208)-g, cdbSNP:121909249
complement(2211)-t, cdbSNP:121909248
complement(2233)-dbSNP:
complement(2233)-g, cdbSNP:104893859
complement(2246)-t, cdbSNP:138593200
complement(2327)-g, adbSNP:113012179
complement(2360)-g, adbSNP:104893860
complement(2364)-t, cdbSNP:77144743
complement(2382)-g, adbSNP: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(2621)-t, cdbSNP:148191851
complement(2664)-g, adbSNP:139401187
complement(2708)-g, cdbSNP:1051888
complement(2726)-c, adbSNP:2739199
complement(2771)-g, adbSNP:147543001
complement(2801)-g, cdbSNP: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
complement(3334)-g, cdbSNP:2739201
complement(3336)-g, cdbSNP: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 Sequence Price Select
NM_000325 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 3, mRNA. Full Length $677.73
ORF Sequence $282.75
NM_001204397 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA. Full Length $1218.70
ORF Sequence $276.66
NM_001204398 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 5, mRNA. Full Length $543.46
ORF Sequence $276.66
NM_001204399 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 6, mRNA. Full Length $503.44
ORF Sequence $236.64
NM_153426 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 2, mRNA. Full Length $1136.80
ORF Sequence $276.66
NM_153427 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 1, mRNA. Full Length $1088.50
ORF Sequence $236.64
Title The LIM homeodomain transcription factor LHX6: a transcriptional repressor that interacts with pituitary homeobox 2 (PITX2) to regulate odontogenesis .
Author Zhang,Z., Gutierrez,D., Li,X., Bidlack,F., Cao,H., Wang,J., Andrade,K., Margolis,H.C. and Amendt,B.A.
Journal J. Biol. Chem. 288 (4), 2485-2500 (2013)
Title Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations .
Author Bevan,S., Traylor,M., Adib-Samii,P., Malik,R., Paul,N.L., Jackson,C., Farrall,M., Rothwell,P.M., Sudlow,C., Dichgans,M. and Markus,H.S.
Journal Stroke 43 (12), 3161-3167 (2012)
Title CITED2 mutation links congenital heart defects to dysregulation of the cardiac gene VEGF and PITX2C expression .
Author Li,Q., Pan,H., Guan,L., Su,D. and Ma,X.
Journal Biochem. Biophys. Res. Commun. 423 (4), 895-899 (2012)
Title DNA methylation of the homeobox genes PITX2 and SHOX2 predicts outcome in non-small-cell lung cancer patients .
Author Dietrich,D., Hasinger,O., Liebenberg,V., Field,J.K., Kristiansen,G. and Soltermann,A.
Journal Diagn. Mol. Pathol. 21 (2), 93-104 (2012)
Title Increased expression of PITX2 transcription factor contributes to ovarian cancer progression .
Author Fung,F.K., Chan,D.W., Liu,V.W., Leung,T.H., Cheung,A.N. and Ngan,H.Y.
Journal PLoS ONE 7 (5), E37076 (2012)
Title Expression of the members of the Ptx family of transcription factors in human pituitary adenomas .
Author Pellegrini-Bouiller,I., Manrique,C., Gunz,G., Grino,M., Zamora,A.J., Figarella-Branger,D., Grisoli,F., Jaquet,P. and Enjalbert,A.
Journal J. Clin. Endocrinol. Metab. 84 (6), 2212-2220 (1999)
Title The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities .
Author Amendt,B.A., Sutherland,L.B., Semina,E.V. and Russo,A.F.
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,A.B., Fidanza,V., Yano,T., Bullrich,F., Shimizu,M., Blechman,J., Mazo,A., Canaani,E. and Croce,C.M.
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,W.L., Semina,E.V., Kalenak,J.W., Heon,E., Sheth,B.P., Stone,E.M. and Murray,J.C.
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,E.V., Reiter,R., Leysens,N.J., Alward,W.L., Small,K.W., Datson,N.A., Siegel-Bartelt,J., Bierke-Nelson,D., Bitoun,P., Zabel,B.U., Carey,J.C. and Murray,J.C.
Journal Nat. Genet. 14 (4), 392-399 (1996)

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