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SHOX cDNA ORF clone, Homo sapiens (human)

Gene Symbol SHOX
Entrez Gene ID 6473
Full Name short stature homeobox
Synonyms GCFX, PHOG, SHOXY, SS
General protein information
Preferred Names
short stature homeobox protein
Names
short stature homeobox protein
growth control factor, X-linked
pseudoautosomal homeobox-containing osteogenic protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X|Y

Xp22.33;Yp11.3

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]. lac of sum
Disorder MIM:

400020

Disorder Html: Short stature, idiopathic familial, 300582 (3); Leri-Weill

mRNA and Protein(s)

mRNA Protein Name
NM_000451 NP_000442 short stature homeobox protein isoform SHOXa
NM_006883 NP_006874 short stature homeobox protein isoform SHOXb


Homo sapiens (human) SHOX NP_000442.1
Canis lupus familiaris (dog) SHOX NP_001020793.1
Bos taurus (cattle) SHOX NP_001178475.1
Gallus gallus (chicken) SHOX NP_001073192.1
Danio rerio (zebrafish) shox NP_001119883.1
Xenopus (Silurana) tropicalis (western clawed frog) shox XP_004911874.1


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following SHOX gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the SHOX cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu22956
NM_000451 Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
Starting from $154.50
$309.00
OHu23147 NM_006883 Homo sapiens short stature homeobox (SHOX), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $188.30
$269.00

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu22956
Clone ID Related Accession (Same CDS sequence) NM_000451
Accession Version NM_000451.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 879bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product short stature homeobox protein isoform SHOXa
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX004827.19. This sequence is a reference standard in the RefSeqGene project. On Mar 8, 2006 this sequence version replaced gi:6031201. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: U89331.1, Y11536.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA2142680, SAMEA2150585 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGAAGAGC TCACGGCTTT TGTATCCAAG TCTTTTGACC AGAAAAGCAA GGACGGTAAC 
GGCGGAGGCG GAGGCGGCGG AGGTAAGAAG GATTCCATTA CGTACCGGGA AGTTTTGGAG
AGCGGACTGG CGCGCTCCCG GGAGCTGGGG ACGTCGGATT CCAGCCTCCA GGACATCACG
GAGGGCGGCG GCCACTGCCC GGTGCATTTG TTCAAGGACC ACGTAGACAA TGACAAGGAG
AAACTGAAAG AATTCGGCAC CGCGAGAGTG GCAGAAGGGA TTTATGAATG CAAAGAGAAG
CGCGAGGACG TGAAGTCGGA GGACGAGGAC GGGCAGACCA AGCTGAAACA GAGGCGCAGC
CGCACCAACT TCACGCTGGA GCAGCTGAAC GAGCTCGAGC GACTCTTCGA CGAGACCCAT
TACCCCGACG CCTTCATGCG CGAGGAGCTC AGCCAGCGCC TGGGGCTCTC CGAGGCGCGC
GTGCAGGTTT GGTTCCAGAA CCGGAGAGCC AAGTGCCGCA AACAAGAGAA TCAGATGCAT
AAAGGCGTCA TCTTGGGCAC AGCCAACCAC CTAGACGCCT GCCGAGTGGC ACCCTACGTC
AACATGGGAG CCTTACGGAT GCCTTTCCAA CAGGTCCAGG CTCAGCTGCA GCTGGAAGGC
GTGGCCCACG CGCACCCGCA CCTGCACCCG CACCTGGCGG CGCACGCGCC CTACCTGATG
TTCCCCCCGC CGCCCTTCGG GCTGCCCATC GCGTCGCTGG CCGAGTCCGC CTCGGCCGCC
GCCGTGGTCG CCGCCGCCGC CAAAAGCAAC AGCAAGAATT CCAGCATCGC CGACCTGCGG
CTCAAGGCGC GGAAGCACGC GGAGGCCCTG GGGCTCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000442.1
CDS692..1570
Misc Feature(1)602..604(+)
Misc Feature(2)1007..1009(+)
Misc Feature(3)1043..1219(+)
Misc Feature(4)1043..1213(+)
Misc Feature(5)1049..1201(+)
Misc Feature(6)1415..1438(+)
Misc Feature(7)1496..1558(+)
Misc Feature(8)1511..1552(+)
Exon (1)1..259
Gene:SHOX
Gene Synonym:
Exon (2)260..968
Gene:SHOX
Gene Synonym:
Exon (3)969..1177
Gene:SHOX
Gene Synonym:
Exon (4)1178..1235
Gene:SHOX
Gene Synonym:
Exon (5)1236..1324
Gene:SHOX
Gene Synonym:
Exon (6)1325..3757
Gene:SHOX
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000451
Organism Homo sapiens (human)
Definition Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000451

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGAAGAGC TCACGGCTTT TGTATCCAAG TCTTTTGACC AGAAAAGCAA GGACGGTAAC 
GGCGGAGGCG GAGGCGGCGG AGGTAAGAAG GATTCCATTA CGTACCGGGA AGTTTTGGAG
AGCGGACTGG CGCGCTCCCG GGAGCTGGGG ACGTCGGATT CCAGCCTCCA GGACATCACG
GAGGGCGGCG GCCACTGCCC GGTGCATTTG TTCAAGGACC ACGTAGACAA TGACAAGGAG
AAACTGAAAG AATTCGGCAC CGCGAGAGTG GCAGAAGGGA TTTATGAATG CAAAGAGAAG
CGCGAGGACG TGAAGTCGGA GGACGAGGAC GGGCAGACCA AGCTGAAACA GAGGCGCAGC
CGCACCAACT TCACGCTGGA GCAGCTGAAC GAGCTCGAGC GACTCTTCGA CGAGACCCAT
TACCCCGACG CCTTCATGCG CGAGGAGCTC AGCCAGCGCC TGGGGCTCTC CGAGGCGCGC
GTGCAGGTTT GGTTCCAGAA CCGGAGAGCC AAGTGCCGCA AACAAGAGAA TCAGATGCAT
AAAGGCGTCA TCTTGGGCAC AGCCAACCAC CTAGACGCCT GCCGAGTGGC ACCCTACGTC
AACATGGGAG CCTTACGGAT GCCTTTCCAA CAGGTCCAGG CTCAGCTGCA GCTGGAAGGC
GTGGCCCACG CGCACCCGCA CCTGCACCCG CACCTGGCGG CGCACGCGCC CTACCTGATG
TTCCCCCCGC CGCCCTTCGG GCTGCCCATC GCGTCGCTGG CCGAGTCCGC CTCGGCCGCC
GCCGTGGTCG CCGCCGCCGC CAAAAGCAAC AGCAAGAATT CCAGCATCGC CGACCTGCGG
CTCAAGGCGC GGAAGCACGC GGAGGCCCTG GGGCTCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu23147
Clone ID Related Accession (Same CDS sequence) NM_006883
Accession Version NM_006883.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 678bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product short stature homeobox protein isoform SHOXb
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX004827.19. This sequence is a reference standard in the RefSeqGene project. On Mar 8, 2006 this sequence version replaced gi:6031202. Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to transcript variant 1, and encodes a shorter isoform (SHOXb) with a different C-terminus compared to 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: Y11535.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA962332 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
ATGGAAGAGC TCACGGCTTT TGTATCCAAG TCTTTTGACC AGAAAAGCAA GGACGGTAAC 
GGCGGAGGCG GAGGCGGCGG AGGTAAGAAG GATTCCATTA CGTACCGGGA AGTTTTGGAG
AGCGGACTGG CGCGCTCCCG GGAGCTGGGG ACGTCGGATT CCAGCCTCCA GGACATCACG
GAGGGCGGCG GCCACTGCCC GGTGCATTTG TTCAAGGACC ACGTAGACAA TGACAAGGAG
AAACTGAAAG AATTCGGCAC CGCGAGAGTG GCAGAAGGGA TTTATGAATG CAAAGAGAAG
CGCGAGGACG TGAAGTCGGA GGACGAGGAC GGGCAGACCA AGCTGAAACA GAGGCGCAGC
CGCACCAACT TCACGCTGGA GCAGCTGAAC GAGCTCGAGC GACTCTTCGA CGAGACCCAT
TACCCCGACG CCTTCATGCG CGAGGAGCTC AGCCAGCGCC TGGGGCTCTC CGAGGCGCGC
GTGCAGGTTT GGTTCCAGAA CCGGAGAGCC AAGTGCCGCA AACAAGAGAA TCAGATGCAT
AAAGGCGTCA TCTTGGGCAC AGCCAACCAC CTAGACGCCT GCCGAGTGGC ACCCTACGTC
AACATGGGAG CCTTACGGAT GCCTTTCCAA CAGATGGAGT TTTGCTCTTG TCGCCCGGGC
TGGAGTATAA TGGCATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_006874.1
CDS692..1369
Misc Feature(1)602..604(+)
Misc Feature(2)1007..1009(+)
Misc Feature(3)1043..1219(+)
Misc Feature(4)1043..1213(+)
Misc Feature(5)1049..1201(+)
Exon (1)1..259
Gene:SHOX
Gene Synonym:
Exon (2)260..968
Gene:SHOX
Gene Synonym:
Exon (3)969..1177
Gene:SHOX
Gene Synonym:
Exon (4)1178..1235
Gene:SHOX
Gene Synonym:
Exon (5)1236..1324
Gene:SHOX
Gene Synonym:
Exon (6)1325..1951
Gene:SHOX
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_006883
Organism Homo sapiens (human)
Definition Homo sapiens short stature homeobox (SHOX), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_006883

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
ATGGAAGAGC TCACGGCTTT TGTATCCAAG TCTTTTGACC AGAAAAGCAA GGACGGTAAC 
GGCGGAGGCG GAGGCGGCGG AGGTAAGAAG GATTCCATTA CGTACCGGGA AGTTTTGGAG
AGCGGACTGG CGCGCTCCCG GGAGCTGGGG ACGTCGGATT CCAGCCTCCA GGACATCACG
GAGGGCGGCG GCCACTGCCC GGTGCATTTG TTCAAGGACC ACGTAGACAA TGACAAGGAG
AAACTGAAAG AATTCGGCAC CGCGAGAGTG GCAGAAGGGA TTTATGAATG CAAAGAGAAG
CGCGAGGACG TGAAGTCGGA GGACGAGGAC GGGCAGACCA AGCTGAAACA GAGGCGCAGC
CGCACCAACT TCACGCTGGA GCAGCTGAAC GAGCTCGAGC GACTCTTCGA CGAGACCCAT
TACCCCGACG CCTTCATGCG CGAGGAGCTC AGCCAGCGCC TGGGGCTCTC CGAGGCGCGC
GTGCAGGTTT GGTTCCAGAA CCGGAGAGCC AAGTGCCGCA AACAAGAGAA TCAGATGCAT
AAAGGCGTCA TCTTGGGCAC AGCCAACCAC CTAGACGCCT GCCGAGTGGC ACCCTACGTC
AACATGGGAG CCTTACGGAT GCCTTTCCAA CAGATGGAGT TTTGCTCTTG TCGCCCGGGC
TGGAGTATAA TGGCATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions
Hum. Mol. Genet. 22 (15), 3063-3076 (2013)
Rosin JM, Abassah-Oppong S and Cobb J.


book

Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius
J. Clin. Endocrinol. Metab. 98 (7), E1241-E1247 (2013)
Soucek O, Zapletalova J, Zemkova D, Snajderova M, Novotna D, Hirschfeldova K, Plasilova I, Kolouskova S, Rocek M, Hlavka Z, Lebl J and Sumnik Z.


book

Height outcome of the recombinant human growth hormone treatment in patients with SHOX gene haploinsufficiency: a meta-analysis
Pharmacogenomics 14 (6), 607-612 (2013)
Massart F, Bizzi M, Baggiani A and Miccoli M.


book

Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency
Exp. Clin. Endocrinol. Diabetes 121 (2), 109-114 (2013)
Soucek O, Lebl J, Zapletalova J, Novotna D, Plasilova I, Kolouskova S, Zemkova D, Rocek M, Hlavka Z, Hirschfeldova K and Sumnik Z.


book

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
J. Pediatr. Endocrinol. Metab. 25 (9-10), 889-895 (2012)
Danzig J and Levine MA.


book

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)
J. Med. Genet. 32 (10), 831-834 (1995)
Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G and Yokoya S.


book

X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies
J. Med. Genet. 31 (8), 649-651 (1994)
Kuznetzova T, Baranov A, Ivaschenko T, Savitsky GA, Lanceva OE, Wang MR, Giollant M, Malet P, Kascheeva T and Vakharlovsky V.


book

SHOX-Related Haploinsufficiency Disorders
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Munns,C. and Glass,I.


book

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
Proc. Natl. Acad. Sci. U.S.A. 86 (24), 10001-10005 (1989)
Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G and Fraccaro M.


book

The role of Yp in sex determination: new evidence from X/Y translocations
Am. J. Med. Genet. 12 (2), 175-184 (1982)
Zuffardi,O., Maraschio,P., Lo Curto,F., Muller,U., Giarola,A. and Perotti,L.


 
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