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

RefSeq Accession Definition Services Price Order
NM_000451 Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. ORF Sequence $254.91
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RefSeq Version NM_000451.3, 89257355
Length 3757 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.
Product short stature homeobox protein isoform SHOXa

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)1511..1552
Exon (1)1..259
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (2)260..968
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (3)969..1177
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (4)1178..1235
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (5)1236..1324
Gene Synonym:GCFX; PHOG; SHOXY; SS
Exon (6)1325..3757
Gene Synonym:GCFX; PHOG; SHOXY; SS
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Position Chain Variation Link
6+c, gdbSNP:28475683
12+g, tdbSNP:3813940
43..44+, tdbSNP:112273183
44..45+, ttgdbSNP:200223988
45..46+, tg, ttgdbSNP:68102883
46..47+, gdbSNP:199946685
47..48+, gttdbSNP:72118607
47+g, tdbSNP:200022908
55+, tdbSNP:72246778
56..57+, tdbSNP:59633441
56+, tdbSNP:55872554
180+a, cdbSNP:113313554
185+c, gdbSNP:111549748
187+c, tdbSNP:185642798
278+c, tdbSNP:182995615
320+a, gdbSNP:2239401
379+g, tdbSNP:187326087
449+a, gdbSNP:191787445
673+c, gdbSNP:201157428
754+c, tdbSNP:142306835
777+a, cdbSNP:146304983
811+a, gdbSNP:139059497
814+c, tdbSNP:140473647
830..831+, gdbSNP:35183803
861+a, gdbSNP:150426690
878+a, gdbSNP:138243769
890+c, tdbSNP:200663078
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
1085+c, gdbSNP:137852554
1091+a, cdbSNP:193922467
1096+c, tdbSNP:1063806
1117+c, gdbSNP:143360725
1149+g, tdbSNP:137852555
1193+c, tdbSNP:137852557
1208+c, tdbSNP:137852556
1224..1225+, tdbSNP:35974286
1234+a, cdbSNP:202144835
1237+c, tdbSNP:138998412
1267+c, tdbSNP:200088460
1274+c, tdbSNP:137852552
1275+a, gdbSNP:188370909
1288+c, gdbSNP:137852553
1568+c, tdbSNP:137852559
1656..1657+, cdbSNP:34597303
1694..1695+, cdbSNP:35368282
1747+c, gdbSNP:181472527
1748+c, gdbSNP:186114414
1822+a, cdbSNP:191075100
1883+c, tdbSNP:183343658
1894+a, cdbSNP:185857936
1905+a, gdbSNP:145195781
1996+c, tdbSNP:149127363
2155+c, gdbSNP:191201624
2164+a, cdbSNP:143310175
2324+a, tdbSNP:73607276
2338+, ttttttttttttdbSNP:71660280
2489+, adbSNP:200764444
2524+c, tdbSNP:35507574
2544+a, gdbSNP:183196814
2554+c, gdbSNP:145776742
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
3094+c, tdbSNP:111719077
3133+a, gdbSNP:189290967
3210+a, gdbSNP:181993811
3220+c, gdbSNP:185971755
3473..3474+, adbSNP:11482355
3527+c, gdbSNP:111339776
3556+c, tdbSNP:144271137
3633+c, tdbSNP:147410605
3647+a, gdbSNP:148442993
3670+a, gdbSNP:142700360
3713+c, tdbSNP:28410756
3727..3728+, tdbSNP:201606123
3730+a, tdbSNP:36064730
3740+a, gdbSNP:28505100
Gene SymbolSHOX
Locus MapYp11.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000451 Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. Full Length $1314.95
ORF Sequence $254.91
NM_006883 Homo sapiens short stature homeobox (SHOX), transcript variant 2, mRNA. Full Length $565.79
ORF Sequence $196.62
Title New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia .
Author Song,S.H., Balce,G.C., Agashe,M.V., Lee,H., Hong,S.J., Park,Y.E., Kim,S.G. and Song,H.R.
Journal Am. J. Med. Genet. A 158A (10), 2456-2462 (2012)
Title Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer .
Author Benito-Sanz,S., Royo,J.L., Barroso,E., Paumard-Hernandez,B., Barreda-Bonis,A.C., Liu,P., Gracia,R., Lupski,J.R., Campos-Barros,A., Gomez-Skarmeta,J.L. and Heath,K.E.
Journal J. Med. Genet. 49 (7), 442-450 (2012)
Title New roles of SHOX as regulator of target genes .
Author Rappold,G.A., Durand,C., Decker,E., Marchini,A. and Schneider,K.U.
Journal Pediatr Endocrinol Rev 9 (SUPPL 2), 733-738 (2012)
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,M.A.
Journal J. Pediatr. Endocrinol. Metab. 25 (9-10), 889-895 (2012)
Title The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures .
Author Durand,C., Decker,E., Roeth,R., Schneider,K.U. and Rappold,G.
Journal PLoS ONE 7 (9), E45369 (2012)
Title Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome .
Author Rao,E., Weiss,B., Fukami,M., Rump,A., Niesler,B., Mertz,A., Muroya,K., Binder,G., Kirsch,S., Winkelmann,M., Nordsiek,G., Heinrich,U., Breuning,M.H., Ranke,M.B., Rosenthal,A., Ogata,T. and Rappold,G.A.
Journal Nat. Genet. 16 (1), 54-63 (1997)
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,G.A., Lanceva,O.E., Wang,M.R., Giollant,M., Malet,P., Kascheeva,T., Vakharlovsky,V. et al.
Journal J. Med. Genet. 31 (8), 649-651 (1994)
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,M.A., Gimelli,G., Fraccaro,M. et al.
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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