Human Gene SHOX2 (ENST00000483851.7_9) from GENCODE V47lift37
  Description: short stature homeobox 2, transcript variant 3 (from RefSeq NM_001163678.2)
Gencode Transcript: ENST00000483851.7_9
Gencode Gene: ENSG00000168779.21_17
Transcript (Including UTRs)
   Position: hg19 chr3:157,813,694-157,824,209 Size: 10,516 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr3:157,815,816-157,823,813 Size: 7,998 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:157,813,694-157,824,209)mRNA (may differ from genome)Protein (319 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SHOX2_HUMAN
DESCRIPTION: RecName: Full=Short stature homeobox protein 2; AltName: Full=Homeobox protein Og12X; AltName: Full=Paired-related homeobox protein SHOT;
FUNCTION: May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, liver, lung, bone marrow fibroblast, pancreas and placenta.
DEVELOPMENTAL STAGE: Expressed during cranofacial development as well as in heart.
SIMILARITY: Belongs to the paired homeobox family. Bicoid subfamily.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAC39662.1; Type=Erroneous initiation; Sequence=CAA05341.1; Type=Erroneous initiation; Sequence=CAA05342.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SHOX2
Diseases sorted by gene-association score: turner syndrome (23), hard palate cancer (22), sinoatrial node disease (21), leri-weill dyschondrosteosis (17), cornelia de lange syndrome (14), heart conduction disease (14), bone development disease (14), axenfeld-rieger syndrome, type 1 (13), eyelid disease (13), diverticulitis (10), townes-brocks syndrome (10), sick sinus syndrome (9), neonatal period electroclinical syndrome (7), gonadal disease (7), axenfeld-rieger syndrome (7), physical disorder (7), holt-oram syndrome (6), orofacial cleft (5), osteochondrodysplasia (5), oral cavity cancer (5), early myoclonic encephalopathy (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.09 RPKM in Nerve - Tibial
Total median expression: 50.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -96.80396-0.244 Picture PostScript Text
3' UTR -556.302122-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR000047 - HTH_motif
IPR003654 - OAR_dom

Pfam Domains:
PF00046 - Homeodomain
PF03826 - OAR motif

SCOP Domains:
46689 - Homeodomain-like
88659 - Sigma3 and sigma4 domains of RNA polymerase sigma factors

ModBase Predicted Comparative 3D Structure on O60902
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001649 osteoblast differentiation
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0002062 chondrocyte differentiation
GO:0002063 chondrocyte development
GO:0003170 heart valve development
GO:0003209 cardiac atrium morphogenesis
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007507 heart development
GO:0030326 embryonic limb morphogenesis
GO:0032330 regulation of chondrocyte differentiation
GO:0035115 embryonic forelimb morphogenesis
GO:0045880 positive regulation of smoothened signaling pathway
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048557 embryonic digestive tract morphogenesis
GO:0048598 embryonic morphogenesis
GO:0048743 positive regulation of skeletal muscle fiber development
GO:0050772 positive regulation of axonogenesis
GO:0060272 embryonic skeletal joint morphogenesis
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:0060415 muscle tissue morphogenesis
GO:2000172 regulation of branching morphogenesis of a nerve

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AF022654 - Homo sapiens homeodomain protein (OG12) mRNA, complete cds.
AJ002368 - Homo sapiens mRNA for homeobox protein SHOTb.
AJ002367 - Homo sapiens mRNA for homeobox protein SHOTa.
BC008829 - Homo sapiens short stature homeobox 2, mRNA (cDNA clone MGC:12649 IMAGE:4122010), complete cds.
JD084532 - Sequence 65556 from Patent EP1572962.
JD237774 - Sequence 218798 from Patent EP1572962.
JD564039 - Sequence 545063 from Patent EP1572962.
JD434692 - Sequence 415716 from Patent EP1572962.
AK095338 - Homo sapiens cDNA FLJ38019 fis, clone CTONG2012758, highly similar to Short stature homeobox protein 2.
JD462342 - Sequence 443366 from Patent EP1572962.
JD544285 - Sequence 525309 from Patent EP1572962.
JD522879 - Sequence 503903 from Patent EP1572962.
JD458937 - Sequence 439961 from Patent EP1572962.
JD462420 - Sequence 443444 from Patent EP1572962.
JD141991 - Sequence 123015 from Patent EP1572962.
JD230782 - Sequence 211806 from Patent EP1572962.
HQ258019 - Synthetic construct Homo sapiens clone IMAGE:100072328 short stature homeobox 2 (SHOX2) gene, encodes complete protein.
KJ905316 - Synthetic construct Homo sapiens clone ccsbBroadEn_14841 SHOX2 gene, encodes complete protein.
AK309293 - Homo sapiens cDNA, FLJ99334.
JD351524 - Sequence 332548 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000483851.1, ENST00000483851.2, ENST00000483851.3, ENST00000483851.4, ENST00000483851.5, ENST00000483851.6, NM_001163678, O60465, O60467, O60902, O60903, OG12X, SHOT, SHOX2_HUMAN, uc322djv.1, uc322djv.2
UCSC ID: ENST00000483851.7_9
RefSeq Accession: NM_001163678.2
Protein: O60902 (aka SHOX2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.