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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ALX homeobox 4 (ALX4), mRNA.


RefSeq Accession Definition Services Price Order
NM_021926 Homo sapiens ALX homeobox 4 (ALX4), mRNA. ORF Sequence $358.44
Peptide Services
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Protein Services


RefSeq Version NM_021926.3, 261245049
Length 5466 bp
Structure linear
Update Date 21-APR-2013
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:FND2
Exon (2)571..881
Gene:ALX4
Gene Synonym:FND2
Exon (3)882..1010
Gene:ALX4
Gene Synonym:FND2
Exon (4)1011..5466
Gene:ALX4
Gene Synonym:FND2
Translation MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDA KSRARYGAGQQDLATPLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQP HLYLQRGACKTPPDGSLKLQEGSSGHSAALQVPCYAKESSLGEPELPPDSDTVGMDSSYL SVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNRTTFTSYQLEELEKVFQKTHYPD VYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFGQMQQVRTHFSTAYELPLLTRAENY AQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFLSVSGAGSHVG QTHMGSLFGAASLSPGLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT
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Position Chain Variation Link
complement(14)-t, gdbSNP:116381450
complement(123)-t, gdbSNP:281865153
complement(167)-g, adbSNP:61737298
complement(173)-g, cdbSNP:115968657
208+c, gdbSNP:3824915
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
complement(522)-t, cdbSNP:104894191
complement(536)-g, adbSNP:200895706
complement(564)-t, adbSNP:182274454
complement(593)-dbSNP:
complement(593)-t, cdbSNP:147204958
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
complement(724)-c, adbSNP:104894197
complement(725)-t, cdbSNP:10769028
complement(735)-g, adbSNP:281865154
complement(756)-t, g, adbSNP:138094422
complement(757)-g, adbSNP:104894193
complement(786)-t, cdbSNP:201889959
complement(832)-g, adbSNP:145166164
complement(833)-t, cdbSNP:11037928
complement(840)-t, cdbSNP:104894192
complement(874)-t, cdbSNP:200419726
complement(875)-g, adbSNP:146633975
897+dbSNP:
897+c, tdbSNP:267606653
complement(919)-g, cdbSNP:104894196
complement(949)-t, cdbSNP:144440589
complement(983)-g, adbSNP:12419361
complement(991)-t, cdbSNP:144961504
complement(1021)-dbSNP:
complement(1021)-g, adbSNP:149897209
complement(1022)-t, cdbSNP:145904583
complement(1040)-g, adbSNP:150706927
complement(1080)-t, cdbSNP:186244229
complement(1116)-t, gdbSNP:144198846
complement(1139)-g, adbSNP:140652481
complement(1160)-t, cdbSNP:147215488
1178+c, tdbSNP:3802805
complement(1189)-g, adbSNP:61737293
complement(1190)-t, cdbSNP:201245023
complement(1221)-g, adbSNP:148027225
complement(1237)-t, cdbSNP:144742417
complement(1250)-t, cdbSNP:355697
complement(1264)-t, cdbSNP:200431603
complement(1286)-t, cdbSNP:149365713
complement(1318)-t, gdbSNP:200122905
complement(1373)-g, adbSNP:200498976
complement(1385)-g, adbSNP:201804180
complement(1386)-t, cdbSNP:72905941
complement(1530)-, adbSNP:149189417
complement(1536)-g, adbSNP:189945537
complement(1539..1540)-, 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
complement(2053)-t, g, c, adbSNP:410592
complement(2054)-g, cdbSNP:454205
complement(2147..2149)-, cttdbSNP:149719812
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
complement(2312)-g, adbSNP: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(2902)-g, cdbSNP:111964563
complement(2969)-g, adbSNP:184605209
complement(3039)-c, adbSNP:7942612
complement(3053)-g, cdbSNP:76845793
complement(3236)-t, cdbSNP:55959427
complement(3241)-t, cdbSNP:78007447
complement(3253)-t, cdbSNP:189662898
complement(3343..3344)-, gdbSNP:35568325
complement(3352)-t, cdbSNP:192255899
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(3803)-t, adbSNP:192114163
complement(3818)-g, adbSNP:187228888
complement(3819)-t, cdbSNP:897004
complement(3847)-t, cdbSNP:75369525
complement(3947)-g, adbSNP:148576097
complement(3994)-t, cdbSNP:112232037
complement(4013)-t, adbSNP:146304390
complement(4022)-t, cdbSNP:897005
complement(4168)-g, adbSNP:77015141
complement(4172)-c, adbSNP:1840254
complement(4185)-t, cdbSNP:182853569
complement(4201)-t, gdbSNP:192487688
complement(4254)-g, adbSNP:188675900
complement(4285)-g, adbSNP:373283
complement(4286)-g, adbSNP: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(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(5152)-t, cdbSNP:143536201
complement(5458..5459)-, adbSNP:34557775
Gene SymbolALX4
Gene SynonymFND2
Chromosome11
Locus Map11p11.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_021926 Homo sapiens ALX homeobox 4 (ALX4), mRNA. Full Length $2459.70
ORF Sequence $358.44
Title ALX4 gain-of-function mutations in nonsyndromic craniosynostosis .
Author Yagnik,G., Ghuman,A., Kim,S., Stevens,C.G., Kimonis,V., Stoler,J., Sanchez-Lara,P.A., Bernstein,J.A., Naydenov,C., Drissi,H., Cunningham,M.L., Kim,J. and Boyadjiev,S.A.
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,L.A., Quiezi,R.G., Guion-Almeida,M.L., Legnaro,C. and Richieri-Costa,A.
Journal Am. J. Med. Genet. A 158A (5), 1233-1235 (2012)
Title Impact of single nucleotide polymorphisms and of clinical risk factors on new-onset diabetes mellitus in HIV-infected individuals .
Author Rotger,M., Gsponer,T., Martinez,R., Taffe,P., Elzi,L., Vernazza,P., Cavassini,M., Bernasconi,E., Hirschel,B., Furrer,H., Weber,R., Ledergerber,B., Egger,M., Telenti,A. and Tarr,P.E.
Journal Clin. Infect. Dis. 51 (9), 1090-1098 (2010)
Title HoxB2, HoxB4 and Alx4 genes are downregulated in the cadmium-induced omphalocele in the chick model .
Author Doi,T., Puri,P., Bannigan,J. and Thompson,J.
Journal Pediatr. Surg. Int. 26 (10), 1017-1023 (2010)
Title Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia .
Author Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
Journal PLoS ONE 5 (7), E11493 (2010)
Title The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500) .
Author Wuyts,W., Cleiren,E., Homfray,T., Rasore-Quartino,A., Vanhoenacker,F. and Van Hul,W.
Journal J. Med. Genet. 37 (12), 916-920 (2000)
Title Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome .
Author Wu,Y.Q., Badano,J.L., McCaskill,C., Vogel,H., Potocki,L. and Shaffer,L.G.
Journal Am. J. Hum. Genet. 67 (5), 1327-1332 (2000)
Title Physical and genetic interactions between Alx4 and Cart1 .
Author Qu,S., Tucker,S.C., 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,J.T., Meinecke,P., Hogue,D., Werner,W., Zabel,B., Hinkel,G.K., Powell,C.M., Shaffer,L.G. and Willems,P.J.
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,J.M., Ward,H.B. and Evans,D.G.
Journal J. Med. Genet. 32 (10), 823-824 (1995)

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