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Database:

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Homo sapiens ALX homeobox 4 (ALX4), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_021926 Homo sapiens ALX homeobox 4 (ALX4), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_021926.3, 261245049
Length 5466 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ALX homeobox 4 (ALX4), mRNA.
Product homeobox protein aristaless-like 4
Comment

Summary: This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009].


Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_068745.2
CDS 105..1340
Misc Feature(1)747..923
Misc Feature(2)747..923
Misc Feature(3)order(747..761,765..767,816..818,834..836,873..875,
Misc Feature(4)order(753..755,762..764,882..884,891..896,903..905)
Misc Feature(5)1263..1322
Misc Feature(6)1275..1316
Exon (1)1..570
Gene:ALX4
Gene Synonym:CRS5; FND2
Exon (2)571..881
Gene:ALX4
Gene Synonym:CRS5; FND2
Exon (3)882..1010
Gene:ALX4
Gene Synonym:CRS5; FND2
Exon (4)1011..5466
Gene:ALX4
Gene Synonym:CRS5; FND2
Translation MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDA KSRARYGAGQQDLATPLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQP HLYLQRGACKTPPDGSLKLQEGSSGHSAALQVPCYAKESSLGEPELPPDSDTVGMDSSYL SVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNRTTFTSYQLEELEKVFQKTHYPD VYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFGQMQQVRTHFSTAYELPLLTRAENY AQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFLSVSGAGSHVG QTHMGSLFGAASLSPGLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT
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Position Chain Variation Link
complement(14)-t, gdbSNP:116381450
complement(60)-g, cdbSNP:377130834
complement(85)-t, cdbSNP:373304528
complement(93)-t, gdbSNP:370141684
123+g, tdbSNP:281865153
complement(166)-t, cdbSNP:374650044
complement(167)-g, adbSNP:61737298
complement(173)-g, cdbSNP:115968657
complement(193)-t, cdbSNP:370055325
complement(203)-t, adbSNP:375641880
208+c, gdbSNP:3824915
complement(225)-t, cdbSNP:373566188
complement(230)-c, adbSNP:369346595
complement(252)-t, cdbSNP:374868143
complement(290)-g, adbSNP:371338431
complement(291)-t, gdbSNP:374839498
complement(292)-t, cdbSNP:372830230
complement(330)-t, gdbSNP:79200219
complement(408)-g, adbSNP:12421995
complement(418..429)-, gctgcggctgcgdbSNP:201777848
complement(463)-g, adbSNP:186600034
complement(464)-c, adbSNP:199971294
489..498+, tgcaagacgcdbSNP:387906325
522+c, tdbSNP:104894191
complement(536)-g, adbSNP:200895706
complement(544)-t, cdbSNP:374726657
complement(564)-t, adbSNP:182274454
complement(591)-dbSNP:
complement(591)-c, adbSNP:371740812
complement(593)-t, cdbSNP:147204958
complement(632)-g, cdbSNP:376287400
complement(651)-t, cdbSNP:368396709
complement(673)-t, gdbSNP:143620051
complement(682)-t, cdbSNP:201303900
complement(698)-t, gdbSNP:61737295
complement(709)-c, adbSNP:150424138
complement(720)-t, cdbSNP:140457891
complement(722)-g, adbSNP:180962051
724+a, cdbSNP:104894197
complement(725)-t, cdbSNP:10769028
735+a, gdbSNP:281865154
complement(748)-t, cdbSNP:370195126
complement(756)-t, g, adbSNP:138094422
757+a, gdbSNP:104894193
complement(783)-t, cdbSNP:376402455
complement(786)-t, cdbSNP:201889959
complement(832)-g, adbSNP:145166164
complement(833)-t, cdbSNP:11037928
840+c, tdbSNP:104894192
complement(874)-t, cdbSNP:200419726
complement(875)-g, adbSNP:146633975
complement(896)-dbSNP:
complement(896)-g, adbSNP:375808395
897+c, tdbSNP:267606653
919+c, gdbSNP:104894196
complement(920)-t, cdbSNP:371742894
complement(925)-t, cdbSNP:368050443
complement(949)-t, cdbSNP:144440589
complement(983)-g, adbSNP:12419361
complement(991)-t, cdbSNP:144961504
complement(1004)-g, adbSNP:373589363
complement(1021)-dbSNP:
complement(1021)-g, adbSNP:149897209
complement(1022)-t, cdbSNP:145904583
complement(1040)-g, adbSNP:150706927
complement(1080)-t, cdbSNP:186244229
complement(1084)-g, adbSNP:372163762
complement(1085)-t, cdbSNP:367915603
complement(1116)-t, gdbSNP:144198846
complement(1139)-g, adbSNP:140652481
complement(1146)-t, cdbSNP:369033845
complement(1160)-t, cdbSNP:147215488
1178+c, tdbSNP:3802805
complement(1189)-g, adbSNP:61737293
complement(1190)-t, cdbSNP:201245023
complement(1199)-t, gdbSNP:369085844
complement(1221)-g, adbSNP:148027225
complement(1237)-t, cdbSNP:144742417
1250+c, tdbSNP:355697
complement(1253)-g, adbSNP:376675326
complement(1262)-t, cdbSNP:372442372
complement(1264)-t, cdbSNP:200431603
complement(1284)-t, cdbSNP:369740288
complement(1286)-t, cdbSNP:149365713
complement(1310)-t, cdbSNP:375068808
complement(1318)-t, gdbSNP:200122905
complement(1360)-g, cdbSNP:369302027
complement(1373)-g, adbSNP:200498976
complement(1385)-g, adbSNP:201804180
complement(1386)-t, cdbSNP:72905941
complement(1389)-g, adbSNP:368986164
complement(1496)-t, cdbSNP:376658247
complement(1530)-, adbSNP:149189417
complement(1536)-g, adbSNP:189945537
complement(1537..1538)-, gdbSNP:34142561
complement(1568)-g, adbSNP:4755798
complement(1606)-c, adbSNP:60998360
complement(1630)-g, adbSNP:7128671
complement(1712)-t, cdbSNP:113482355
complement(1764..1765)-, gdbSNP:113592690
complement(1857)-g, adbSNP:4755797
complement(1887)-t, cdbSNP:4755796
complement(1999)-g, adbSNP:147563621
2053+a, c, g, tdbSNP:410592
2054+c, gdbSNP:454205
complement(2122)-t, cdbSNP:373562733
complement(2142..2144)-, tctdbSNP:373830863
complement(2147..2149)-, cttdbSNP:149719812
complement(2178)-g, adbSNP:369798593
complement(2242)-t, cdbSNP:76229477
complement(2262)-c, adbSNP:185632337
complement(2263)-g, adbSNP:181642223
complement(2284)-c, adbSNP:188954464
complement(2303)-t, cdbSNP:140400459
2312+a, gdbSNP:151214135
complement(2313)-t, cdbSNP:117526668
complement(2330)-g, adbSNP:184957641
complement(2337)-g, cdbSNP:192668810
complement(2365)-g, adbSNP:142207322
complement(2389)-t, cdbSNP:190383779
complement(2428)-t, cdbSNP:149094042
complement(2461)-g, adbSNP:146483327
complement(2471)-g, adbSNP:10458913
complement(2567)-t, cdbSNP:76501131
complement(2685)-t, cdbSNP:113781536
complement(2787)-t, cdbSNP:11037920
complement(2872)-t, cdbSNP:373805569
complement(2902)-g, cdbSNP:111964563
complement(2944)-t, cdbSNP:371745373
complement(2969)-g, adbSNP:184605209
complement(3039)-c, adbSNP:7942612
complement(3053)-g, cdbSNP:76845793
complement(3083)-t, cdbSNP:371942370
complement(3236)-t, cdbSNP:55959427
complement(3241)-t, cdbSNP:78007447
complement(3253)-t, cdbSNP:189662898
complement(3342..3343)-, gdbSNP:35568325
complement(3352)-t, cdbSNP:192255899
complement(3411)-, gdbSNP:368700879
complement(3450)-t, cdbSNP:7105993
complement(3476)-c, adbSNP:144345241
complement(3566)-t, cdbSNP:78607024
complement(3574)-g, adbSNP:188326744
complement(3584)-t, cdbSNP:183882854
complement(3689)-t, gdbSNP:139570599
complement(3757..3758)-, tdbSNP:139529859
complement(3779)-g, cdbSNP:370961774
complement(3803)-t, adbSNP:192114163
complement(3818)-g, adbSNP:187228888
3819+c, tdbSNP:897004
complement(3847)-t, cdbSNP:75369525
complement(3905)-, adbSNP:376571868
complement(3947)-g, adbSNP:148576097
complement(3994)-t, cdbSNP:112232037
complement(4012)-g, cdbSNP:370745972
complement(4013)-t, adbSNP:146304390
complement(4022)-t, cdbSNP:386619985
4022+c, tdbSNP:897005
complement(4090)-t, cdbSNP:372769669
complement(4109)-t, cdbSNP:369226766
complement(4168)-g, adbSNP:77015141
4172+a, cdbSNP:1840254
complement(4185)-t, cdbSNP:182853569
complement(4201)-t, gdbSNP:192487688
complement(4254)-g, adbSNP:188675900
4285+a, gdbSNP:373283
4286+a, gdbSNP:453267
complement(4352)-g, cdbSNP:117877500
complement(4384)-t, cdbSNP:149764792
complement(4421)-g, adbSNP:139681611
complement(4447)-t, cdbSNP:4755239
complement(4463)-t, cdbSNP:182987016
complement(4506)-g, adbSNP:7116335
complement(4575)-t, cdbSNP:4755238
complement(4579)-g, adbSNP:190643475
complement(4687)-t, gdbSNP:150701828
complement(4725)-g, adbSNP:142004753
complement(4739)-t, gdbSNP:113734133
complement(4745)-t, cdbSNP:7115841
complement(4779..4780)-, acdbSNP:374150602
complement(4867)-t, cdbSNP:185781739
complement(4936)-g, cdbSNP:11037919
complement(5109)-g, adbSNP:116662493
complement(5113)-t, cdbSNP:114755169
complement(5132)-g, adbSNP:147497663
complement(5145)-t, cdbSNP:373307279
5152+c, tdbSNP:143536201
complement(5283)-t, cdbSNP:373059937
complement(5339)-g, adbSNP:369328027
complement(5458..5459)-, adbSNP:34557775
Gene SymbolALX4
Gene SynonymCRS5; FND2
Chromosome11
Locus Map11p11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_021926 Homo sapiens ALX homeobox 4 (ALX4), mRNA. On-demand TBD TBD
Title Epigenetic silencing of Aristaless-like homeobox-4, a potential tumor suppressor gene associated with lung cancer .
Author Liu WB, Han F, Du XH, Jiang X, Li YH, Liu Y, Chen HQ, Ao L, Cui ZH, Cao J and Liu JY.
Journal Int. J. Cancer 134 (6), 1311-1322 (2014)
Title Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese .
Author He,J., Kelly,T.N., Zhao,Q., Li,H., Huang,J., Wang,L., Jaquish,C.E., Sung,Y.J., Shimmin,L.C., Lu,F., Mu,J., Hu,D., Ji,X., Shen,C., Guo,D., Ma,J., Wang,R., Shen,J., Li,S., Chen,J., Mei,H., Chen,C.S., Chen,S., Chen,J., Li,J., Cao,J., Lu,X., Wu,X., Rice,T.K., Gu,C.C., Schwander,K., Hamm,L.L., Liu,D., Rao,D.C., Hixson,J.E. and Gu,D.
Journal Circ Cardiovasc Genet 6 (6), 598-607 (2013)
Title Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation .
Author Bertola DR, Rodrigues MG, Quaio CR, Kim CA and Passos-Bueno MR.
Journal Am. J. Med. Genet. A 161A (3), 600-604 (2013)
Title ALX4 gain-of-function mutations in nonsyndromic craniosynostosis .
Author Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J and Boyadjiev SA.
Journal Hum. Mutat. 33 (12), 1626-1629 (2012)
Title Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies .
Author Ribeiro-Bicudo LA, Quiezi RG, Guion-Almeida ML, Legnaro C and Richieri-Costa A.
Journal Am. J. Med. Genet. A 158A (5), 1233-1235 (2012)
Title Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome .
Author Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L and Shaffer LG.
Journal Am. J. Hum. Genet. 67 (5), 1327-1332 (2000)
Title Physical and genetic interactions between Alx4 and Cart1 .
Author Qu S, Tucker SC, Zhao Q, deCrombrugghe B and Wisdom R.
Journal Development 126 (2), 359-369 (1999)
Title Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11 .
Author Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG and Willems PJ.
Journal Am. J. Hum. Genet. 58 (4), 734-742 (1996)
Title WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2) .
Author McGaughran JM, Ward HB and Evans DG.
Journal J. Med. Genet. 32 (10), 823-824 (1995)
Title Enlarged Parietal Foramina .
Author Wilkie,A.O.M. and Mavrogiannis,L.A.
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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