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Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu22956 Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $159.00 7-9
OHu22956C Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. Customized vector On-demand $209.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000451.3, 89257355
Length 879 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.
Product short stature homeobox protein isoform SHOXa
Comment

Summary: This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (SHOXa).


Sequence Note: The RefSeq transcript and protein were derived from 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_000442.1
CDS 692..1570
Misc Feature(1)602..604
Misc Feature(2)1007..1009
Misc Feature(3)1007..1009
Misc Feature(4)1043..1219
Misc Feature(5)order(1043..1057,1061..1063,1112..1114,1130..1132,
Misc Feature(6)order(1049..1051,1058..1060,1178..1180,1187..1192,
Misc Feature(7)1415..1438
Misc Feature(8)1496..1558
Misc Feature(9)1511..1552
Exon (1)1..259
Gene:SHOX
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (2)260..968
Gene:SHOX
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (3)969..1177
Gene:SHOX
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (4)1178..1235
Gene:SHOX
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (5)1236..1324
Gene:SHOX
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (6)1325..3757
Gene:SHOX
Gene Synonym:GCFX; PHOG; SHOXY; SS
Translation MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDIT EGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRS RTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMH KGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLM FPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL
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Position Chain Variation Link
6+dbSNP:
6+c, gdbSNP:28475683
12+g, tdbSNP:3813940
16+a, gdbSNP:374378100
43..44+, t, ttdbSNP:112273183
44..45+, ttgdbSNP:200223988
45..46+, tgdbSNP:68102883
46..47+, gdbSNP:199946685
47+g, tdbSNP:200022908
56..57+, tdbSNP:59633441
56+, tdbSNP:55872554
180+a, cdbSNP:113313554
185+c, gdbSNP:111549748
187+c, tdbSNP:185642798
231+a, gdbSNP:371510416
278+dbSNP:
278+c, tdbSNP:182995615
320+a, gdbSNP:2239401
379+g, tdbSNP:187326087
449+a, gdbSNP:191787445
554+g, tdbSNP:375938368
644+a, tdbSNP:368712281
673+c, gdbSNP:201157428
727+c, tdbSNP:376369288
745+c, tdbSNP:368409954
754+c, tdbSNP:142306835
777+a, cdbSNP:146304983
787+c, tdbSNP:374590634
808+a, gdbSNP:267606477
811+a, gdbSNP:139059497
814+c, tdbSNP:140473647
complement(830..831)-, gdbSNP:35183803
861+a, gdbSNP:150426690
878+a, gdbSNP:138243769
881+c, gdbSNP:371578837
890+c, tdbSNP:200663078
902+c, tdbSNP:375027970
952+c, gdbSNP:368925113
970+dbSNP:
970+g, tdbSNP:193922465
995+g, tdbSNP:137852558
1008+c, gdbSNP:199774904
1016+c, gdbSNP:202119896
1031+a, gdbSNP:200593538
1038+a, gdbSNP:193922466
1054+a, cdbSNP:149609259
1084+c, gdbSNP:374188319
1085+c, gdbSNP:137852554
1091+a, cdbSNP:193922467
1096+c, tdbSNP:1063806
1102+c, gdbSNP:367787242
1117+c, gdbSNP:143360725
1138+a, gdbSNP:371433978
1149+g, tdbSNP:137852555
1193+dbSNP:
1193+c, tdbSNP:137852557
1195+a, gdbSNP:367892499
1199+c, gdbSNP:397514461
1200+a, cdbSNP:397514462
1208+c, tdbSNP:137852556
complement(1224..1225)-, tdbSNP:35974286
1229+c, tdbSNP:371772960
1234+a, cdbSNP:202144835
1237+dbSNP:
1237+c, tdbSNP:138998412
1267+c, tdbSNP:200088460
1268+a, gdbSNP:376330042
1274+c, tdbSNP:137852552
1275+a, gdbSNP:188370909
1288+c, gdbSNP:137852553
1289+a, gdbSNP:371048081
1418+dbSNP:
1418+c, gdbSNP:374024890
1520+a, gdbSNP:398123403
1568+c, tdbSNP:137852559
1604+c, gdbSNP:370621168
1641+a, cdbSNP:375374324
complement(1656..1657)-, cdbSNP:34597303
complement(1694..1695)-, cdbSNP:35368282
1728+c, tdbSNP:376784254
1747+c, gdbSNP:181472527
1748+c, gdbSNP:186114414
1822+a, cdbSNP:191075100
1854..1855+, agdbSNP:375574678
1855..1856+, agdbSNP:369390009
1883+c, tdbSNP:183343658
1894+a, cdbSNP:185857936
1905+a, gdbSNP:145195781
1996+c, tdbSNP:149127363
2018+c, tdbSNP:200956752
2072+c, gdbSNP:377561273
2155+c, gdbSNP:191201624
2164+a, cdbSNP:143310175
2315+c, tdbSNP:373739141
2324+a, tdbSNP:73607276
2351+a, gdbSNP:201738295
2489+, adbSNP:200764444
complement(2524)-t, cdbSNP:35507574
2524+c, tdbSNP:386583703
2544+a, gdbSNP:183196814
2554+c, gdbSNP:145776742
2598+c, tdbSNP:373715225
2669+c, tdbSNP:187560973
2721+g, tdbSNP:192502886
2727+g, tdbSNP:138395282
2765+a, gdbSNP:182779829
2807+c, tdbSNP:187431074
2811+a, gdbSNP:142012002
2842+c, tdbSNP:150682919
2869+c, tdbSNP:192656237
2891+c, tdbSNP:184999202
2917+a, gdbSNP:137953086
2988+c, gdbSNP:189162461
2991+c, tdbSNP:192799164
3035+c, tdbSNP:183833394
3049+c, gdbSNP:149457161
3078+c, tdbSNP:368319597
3094+c, tdbSNP:111719077
3133+a, gdbSNP:189290967
3210+a, gdbSNP:181993811
3220+c, gdbSNP:185971755
3472..3473+, adbSNP:373237663
3527+c, gdbSNP:111339776
complement(3556)-t, cdbSNP:144271137
3633+c, tdbSNP:147410605
3647+a, gdbSNP:148442993
3670+a, gdbSNP:142700360
3713+c, tdbSNP:28410756
3727..3728+, tdbSNP:201606123
complement(3730)-t, adbSNP:36064730
3739..3740+, agagdbSNP:373451277
3740+a, gdbSNP:28505100
Gene SymbolSHOX
Gene SynonymGCFX; PHOG; SHOXY; SS
ChromosomeY
Locus MapYp11.3
Title Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions .
Author Rosin JM, Abassah-Oppong S and Cobb J.
Journal Hum. Mol. Genet. 22 (15), 3063-3076 (2013)
Title Prepubertal girls with Turner syndrome and children with isolated .
Author Soucek O, Zapletalova J, Zemkova D, Snajderova M, Novotna D, Hirschfeldova K, Plasilova I, Kolouskova S, Rocek M, Hlavka Z, Lebl
Journal J. Clin. Endocrinol. Metab. 98 (7), E1241-E1247 (2013)
Title Height outcome of the recombinant human growth hormone treatment in patients with SHOX gene haploinsufficiency: a meta-analysis .
Author Massart F, Bizzi M, Baggiani A and Miccoli M.
Journal Pharmacogenomics 14 (6), 607-612 (2013)
Title Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency .
Author Soucek O, Lebl J, Zapletalova J, Novotna D, Plasilova I, Kolouskova S, Zemkova D, Rocek M, Hlavka Z, Hirschfeldova K and Sumnik Z.
Journal Exp. Clin. Endocrinol. Diabetes 121 (2), 109-114 (2013)
Title A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells .
Author Danzig J and Levine MA.
Journal J. Pediatr. Endocrinol. Metab. 25 (9-10), 889-895 (2012)
Title Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s) .
Author Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G and Yokoya S.
Journal J. Med. Genet. 32 (10), 831-834 (1995)
Title X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies .
Author Kuznetzova T, Baranov A, Ivaschenko T, Savitsky GA, Lanceva OE, Wang MR, Giollant M, Malet P, Kascheeva T and Vakharlovsky V.
Journal J. Med. Genet. 31 (8), 649-651 (1994)
Title SHOX-Related Haploinsufficiency Disorders .
Author Munns,C. and Glass,I.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome .
Author Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G and Fraccaro M.
Journal Proc. Natl. Acad. Sci. U.S.A. 86 (24), 10001-10005 (1989)
Title The role of Yp in sex determination: new evidence from X/Y translocations .
Author Zuffardi,O., Maraschio,P., Lo Curto,F., Muller,U., Giarola,A. and Perotti,L.
Journal Am. J. Med. Genet. 12 (2), 175-184 (1982)

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